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 MIB2 142678 broad.mit.edu 37 1 1562240 1562240 + Silent SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:1562240G>T uc001agg.2 + 10 1402 c.1275G>T c.(1273-1275)GTG>GTT p.V425V MIB2_uc001agh.2_Silent_p.V411V|MIB2_uc001agi.2_Silent_p.V421V|MIB2_uc001agj.2_Silent_p.V266V|MIB2_uc001agk.2_Silent_p.V360V|MIB2_uc001agl.1_Silent_p.V381V|MIB2_uc001agm.2_Silent_p.V302V|MIB2_uc010nyq.1_Silent_p.V381V|MIB2_uc009vkh.2_Silent_p.V231V|MIB2_uc001agn.2_Silent_p.V57V|MIB2_uc001ago.2_5'Flank NM_080875 NP_543151 Q96AX9 MIB2_HUMAN mindbomb homolog 2 425 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TCGGGAAGGTGGTGAAAGTGT 0.711 3 6 --- --- --- --- PASS ARHGEF16 27237 broad.mit.edu 37 1 3389665 3389665 + Missense_Mutation SNP G A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:3389665G>A uc001akg.3 + 7 1294 c.1046G>A c.(1045-1047)CGG>CAG p.R349Q ARHGEF16_uc001aki.2_Missense_Mutation_p.R61Q|ARHGEF16_uc001akj.2_Missense_Mutation_p.R61Q|ARHGEF16_uc009vli.1_Missense_Mutation_p.R53Q|ARHGEF16_uc010nzh.1_Missense_Mutation_p.R53Q NM_014448 NP_055263 Q5VV41 ARHGG_HUMAN Rho guanine exchange factor 16 349 DH.|Required for RHOG activation and mediates interaction with EPHA2. activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity ovary(1) 1 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) CTGGAGCAGCGGCACAAGGCC 0.627 20 11 --- --- --- --- PASS TAS1R1 80835 broad.mit.edu 37 1 6636553 6636553 + Missense_Mutation SNP A T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:6636553A>T uc001ant.2 + 4 1339 c.1339A>T c.(1339-1341)AGT>TGT p.S447C TAS1R1_uc001anu.2_Missense_Mutation_p.S193C|TAS1R1_uc001anv.2_Missense_Mutation_p.S193C|TAS1R1_uc001anw.2_Intron NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN sweet taste receptor T1r isoform b 447 Extracellular (Potential). sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) AGATCCCCTCAGTAGCTATAA 0.468 46 74 --- --- --- --- PASS SLC45A1 50651 broad.mit.edu 37 1 8398050 8398050 + Nonsense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:8398050C>G uc001apb.2 + 6 1772 c.1772C>G c.(1771-1773)TCA>TGA p.S591* SLC45A1_uc001apc.2_Nonsense_Mutation_p.S289* NM_001080397 NP_001073866 Q9Y2W3 S45A1_HUMAN DNB5 591 Helical; (Potential). carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GCCTTCTACTCAGGTACCCGC 0.577 5 26 --- --- --- --- PASS GRHL3 57822 broad.mit.edu 37 1 24663009 24663009 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:24663009C>A uc001biy.2 + 4 365 c.319C>A c.(319-321)CCC>ACC p.P107T GRHL3_uc001bix.2_Missense_Mutation_p.P102T|GRHL3_uc001biz.2_Missense_Mutation_p.P9T NM_021180 NP_067003 Q8TE85 GRHL3_HUMAN sister-of-mammalian grainyhead protein isoform 102 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) GGACCTCACTCCCCTTGAAAG 0.502 21 82 --- --- --- --- PASS BSDC1 55108 broad.mit.edu 37 1 32841982 32841982 + Missense_Mutation SNP G A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:32841982G>A uc001bvh.3 - 9 1084 c.1037C>T c.(1036-1038)CCA>CTA p.P346L BSDC1_uc010ohg.1_Missense_Mutation_p.P363L|BSDC1_uc010ohh.1_Missense_Mutation_p.P290L|BSDC1_uc010ohi.1_Missense_Mutation_p.P251L|BSDC1_uc001bvg.3_RNA|BSDC1_uc001bvj.2_Missense_Mutation_p.P242L|BSDC1_uc001bvi.2_Missense_Mutation_p.P363L NM_018045 NP_060515 Q9NW68 BSDC1_HUMAN BSD domain containing 1 isoform b 346 protein binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CCTGGGCTCTGGGCCGCCGGT 0.622 11 29 --- --- --- --- PASS SNIP1 79753 broad.mit.edu 37 1 38003387 38003387 + Nonsense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:38003387C>A uc001cbi.2 - 4 1226 c.1153G>T c.(1153-1155)GAG>TAG p.E385* SNIP1_uc010oid.1_RNA NM_024700 NP_078976 Q8TAD8 SNIP1_HUMAN Smad nuclear interacting protein 385 Poly-Glu. production of miRNAs involved in gene silencing by miRNA nucleus protein binding upper_aerodigestive_tract(1)|lung(1) 2 Myeloproliferative disorder(586;0.0393) TCCTCATCCTCGTCATCTTTC 0.423 5 86 --- --- --- --- PASS STIL 6491 broad.mit.edu 37 1 47717492 47717492 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:47717492C>G uc001crc.1 - 17 3335 c.3180G>C c.(3178-3180)TTG>TTC p.L1060F TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.L1014F|STIL_uc010omo.1_Missense_Mutation_p.L1043F|STIL_uc001crd.1_Missense_Mutation_p.L1061F|STIL_uc001cre.1_Missense_Mutation_p.L1060F NM_003035 NP_003026 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus isoform 2 1060 cell proliferation|multicellular organismal development centrosome|cytosol lung(2)|skin(1) 3 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) CCTCCATGCTCAAATCCACAC 0.428 15 63 --- --- --- --- PASS CMPK1 51727 broad.mit.edu 37 1 47838719 47838719 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:47838719C>G uc001cri.2 + 3 560 c.411C>G c.(409-411)AAC>AAG p.N137K CMPK1_uc010omp.1_Missense_Mutation_p.N88K|CMPK1_uc010omq.1_RNA NM_016308 NP_057392 P30085 KCY_HUMAN UMP-CMP kinase 1 isoform a 105 nucleobase, nucleoside and nucleotide interconversion cytosol|nucleus ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity ovary(1) 1 Gemcitabine(DB00441) AAGGATGGAACAAGACCATGG 0.388 25 28 --- --- --- --- PASS ZFYVE9 9372 broad.mit.edu 37 1 52803487 52803487 + Missense_Mutation SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:52803487G>C uc001cto.2 + 16 3886 c.3714G>C c.(3712-3714)TTG>TTC p.L1238F ZFYVE9_uc001ctp.2_Missense_Mutation_p.L1179F NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 1238 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 TGGATTCCTTGAGGCAGGCAC 0.517 3 44 --- --- --- --- PASS CDCP2 200008 broad.mit.edu 37 1 54610191 54610191 + Missense_Mutation SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:54610191G>C uc001cwv.1 - 2 1223 c.375C>G c.(373-375)TTC>TTG p.F125L NM_201546 NP_963840 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 precursor 125 CUB 1. extracellular region ovary(1) 1 TGTCCGAGTGGAAGATGACAG 0.552 8 27 --- --- --- --- PASS PTGFR 5737 broad.mit.edu 37 1 78958457 78958457 + Missense_Mutation SNP T A A rs115647706 byFrequency TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:78958457T>A uc001din.2 + 2 295 c.29T>A c.(28-30)GTG>GAG p.V10E PTGFR_uc001dim.2_Missense_Mutation_p.V10E NM_000959 NP_000950 P43088 PF2R_HUMAN prostaglandin F receptor isoform a precursor 10 Extracellular (Potential). parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity ovary(3)|breast(2)|skin(1) 6 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) AAACAGCTAGTGTCTCCTGCA 0.448 7 29 --- --- --- --- PASS WDR63 126820 broad.mit.edu 37 1 85573813 85573813 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:85573813C>G uc001dkt.2 + 15 1842 c.1651C>G c.(1651-1653)CCA>GCA p.P551A WDR63_uc009wcl.2_Missense_Mutation_p.P512A NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN WD repeat domain 63 551 upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) TTTTGATGTACCATCTACTTT 0.373 7 41 --- --- --- --- PASS SYDE2 84144 broad.mit.edu 37 1 85655743 85655743 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:85655743C>A uc009wcm.2 - 2 1487 c.1438G>T c.(1438-1440)GCA>TCA p.A480S SYDE2_uc001dku.3_Missense_Mutation_p.A480S NM_032184 NP_115560 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 480 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|central_nervous_system(1) 2 all cancers(265;0.0126)|Epithelial(280;0.0336) TTTTTACCTGCAAAAGGAGAT 0.328 46 53 --- --- --- --- PASS PKN2 5586 broad.mit.edu 37 1 89279297 89279297 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:89279297G>T uc001dmn.2 + 16 2502 c.2160G>T c.(2158-2160)TTG>TTT p.L720F PKN2_uc010osp.1_Missense_Mutation_p.L704F|PKN2_uc010osq.1_Missense_Mutation_p.L563F|PKN2_uc009wcv.2_Missense_Mutation_p.L672F|PKN2_uc010osr.1_Missense_Mutation_p.L385F NM_006256 NP_006247 Q16513 PKN2_HUMAN protein kinase N2 720 Protein kinase. signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity large_intestine(1)|lung(1)|skin(1) 3 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) ATCCCTTTTTGGTGAACCTTT 0.338 5 83 --- --- --- --- PASS PTPN22 26191 broad.mit.edu 37 1 114380790 114380790 + Missense_Mutation SNP T C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:114380790T>C uc001eds.2 - 13 1362 c.1232A>G c.(1231-1233)AAG>AGG p.K411R PTPN22_uc009wgq.2_Missense_Mutation_p.K356R|PTPN22_uc010owo.1_Missense_Mutation_p.K167R|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.K411R|PTPN22_uc009wgs.2_Missense_Mutation_p.K284R|PTPN22_uc001edu.2_Missense_Mutation_p.K411R NM_015967 NP_057051 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 411 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding kidney(2)|lung(1)|skin(1) 4 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ACTTTGATGCTTCTGAAGAGG 0.378 27 30 --- --- --- --- PASS SPAG17 200162 broad.mit.edu 37 1 118554983 118554983 + Silent SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:118554983G>T uc001ehk.2 - 30 4368 c.4300C>A c.(4300-4302)CGA>AGA p.R1434R NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1434 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TTGTCTTCTCGAGTTGTCATA 0.388 4 47 --- --- --- --- PASS C1orf54 79630 broad.mit.edu 37 1 150248195 150248195 + Missense_Mutation SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:150248195C>T uc001eud.2 + 3 214 c.176C>T c.(175-177)TCA>TTA p.S59L C1orf54_uc001euc.2_Missense_Mutation_p.S59L|C1orf54_uc001eue.2_Missense_Mutation_p.S59L|C1orf54_uc001euf.2_Missense_Mutation_p.S59L|C1orf54_uc001eug.2_Missense_Mutation_p.S59L NM_024579 NP_078855 Q8WWF1 CA054_HUMAN hypothetical protein LOC79630 precursor 59 extracellular region 0 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) ATATTTGAGTCAGAGGACAGG 0.284 4 24 --- --- --- --- PASS PRPF3 9129 broad.mit.edu 37 1 150305169 150305169 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:150305169G>T uc001eum.3 + 5 600 c.438G>T c.(436-438)ATG>ATT p.M146I PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Missense_Mutation_p.M105I|PRPF3_uc010pcb.1_Missense_Mutation_p.M97I|PRPF3_uc009wlq.1_5'Flank NM_004698 NP_004689 O43395 PRPF3_HUMAN PRP3 pre-mRNA processing factor 3 homolog 146 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding ovary(1) 1 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) AACAGATGATGGAGGCAGCAA 0.418 15 72 --- --- --- --- PASS UBAP2L 9898 broad.mit.edu 37 1 154229595 154229595 + Silent SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:154229595C>T uc001fep.3 + 19 2381 c.2214C>T c.(2212-2214)ACC>ACT p.T738T UBAP2L_uc009wot.2_Silent_p.T738T|UBAP2L_uc010pek.1_Silent_p.T730T|UBAP2L_uc010pel.1_Silent_p.T748T|UBAP2L_uc010pen.1_Silent_p.T652T|UBAP2L_uc001feq.2_5'UTR|UBAP2L_uc001fer.2_5'UTR NM_014847 NP_055662 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like isoform a 738 binding of sperm to zona pellucida protein binding ovary(1)|central_nervous_system(1) 2 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CTTTTTCCACCACATCCAGCA 0.537 23 23 --- --- --- --- PASS ETV3L 440695 broad.mit.edu 37 1 157062453 157062453 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:157062453C>A uc001fqq.1 - 5 1359 c.1074G>T c.(1072-1074)TTG>TTT p.L358F NM_001004341 NP_001004341 Q6ZN32 ETV3L_HUMAN ets variant 3-like 358 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(266;0.158) Prostate(1639;0.184) AAGGAGGATCCAAGGGCCACA 0.572 12 37 --- --- --- --- PASS KIRREL 55243 broad.mit.edu 37 1 158057941 158057941 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:158057941C>A uc001frn.3 + 7 1317 c.913C>A c.(913-915)CAC>AAC p.H305N KIRREL_uc010pib.1_Missense_Mutation_p.H205N|KIRREL_uc009wsq.2_Missense_Mutation_p.H141N|KIRREL_uc001fro.3_Missense_Mutation_p.H103N NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 305 Extracellular (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.0378) AGTAAATGTCCACTGTGAGTA 0.532 OREG0013906 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 75 --- --- --- --- PASS ATP1A2 477 broad.mit.edu 37 1 160100080 160100080 + Silent SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:160100080G>T uc001fvc.2 + 12 1782 c.1650G>T c.(1648-1650)CTG>CTT p.L550L ATP1A2_uc001fvb.2_Silent_p.L550L|ATP1A2_uc001fvd.2_Silent_p.L286L|ATP1A2_uc009wtg.1_Silent_p.L238L NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 550 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) AGCGTGTGCTGGGTGAGAGGC 0.622 20 19 --- --- --- --- PASS APOA2 336 broad.mit.edu 37 1 161192260 161192260 + Nonsense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:161192260C>A uc001fzc.1 - 4 296 c.238G>T c.(238-240)GGA>TGA p.G80* APOA2_uc001fzb.1_RNA NM_001643 NP_001634 P02652 APOA2_HUMAN apolipoprotein A-II preproprotein 80 cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity skin(1) 1 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) AGTTCCGTTCCAGCCTTCTTG 0.502 6 150 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176564494 176564494 + Missense_Mutation SNP A G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:176564494A>G uc001gkz.2 + 3 2918 c.1754A>G c.(1753-1755)AAC>AGC p.N585S PAPPA2_uc001gky.1_Missense_Mutation_p.N585S|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 585 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GTGCTTGTGAACTGTGAGCCC 0.602 18 50 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176668281 176668281 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:176668281G>T uc001gkz.2 + 8 3956 c.2792G>T c.(2791-2793)TGG>TTG p.W931L PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 931 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TTACAGGCCTGGAGCCCTGAG 0.562 5 48 --- --- --- --- PASS RNASEL 6041 broad.mit.edu 37 1 182554630 182554630 + Nonsense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:182554630C>A uc001gpj.1 - 1 1479 c.1312G>T c.(1312-1314)GAG>TAG p.E438* RNASEL_uc009wxz.1_Nonsense_Mutation_p.E438*|RNASEL_uc001gpk.2_Nonsense_Mutation_p.E438*|RNASEL_uc009wya.1_Nonsense_Mutation_p.E438* NM_021133 NP_066956 Q05823 RN5A_HUMAN ribonuclease L 438 Protein kinase.|C6-type; atypical. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding ovary(4)|stomach(1) 5 AGAGTCTGCTCACAGAGGGTG 0.488 Hereditary_Prostate_Cancer 20 21 --- --- --- --- PASS NFASC 23114 broad.mit.edu 37 1 204948542 204948542 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:204948542C>A uc001hbj.2 + 19 2359 c.2031C>A c.(2029-2031)GAC>GAA p.D677E NFASC_uc010pra.1_Missense_Mutation_p.D673E|NFASC_uc001hbi.2_Missense_Mutation_p.D673E|NFASC_uc010prb.1_Missense_Mutation_p.D688E|NFASC_uc010prc.1_Missense_Mutation_p.D244E|NFASC_uc001hbk.1_Missense_Mutation_p.D483E|NFASC_uc001hbl.1_5'Flank NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 677 Extracellular (Potential).|Fibronectin type-III 1. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TCTGGCATGACCATTCCAAGT 0.547 18 30 --- --- --- --- PASS RBBP5 5929 broad.mit.edu 37 1 205064080 205064080 + Silent SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:205064080G>C uc001hbu.1 - 13 1639 c.1509C>G c.(1507-1509)CTC>CTG p.L503L RBBP5_uc010prd.1_Silent_p.L538L|RBBP5_uc001hbv.1_Intron|RBBP5_uc010pre.1_Silent_p.L370L NM_005057 NP_005048 Q15291 RBBP5_HUMAN retinoblastoma binding protein 5 503 histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent MLL1 complex|Set1C/COMPASS complex methylated histone residue binding|transcription regulatory region DNA binding lung(1) 1 Breast(84;0.0505) BRCA - Breast invasive adenocarcinoma(75;0.0923) CCCCTTTGTAGAGTTTCGGTT 0.493 29 43 --- --- --- --- PASS C1orf65 164127 broad.mit.edu 37 1 223568618 223568618 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:223568618C>G uc001hoa.2 + 1 1904 c.1801C>G c.(1801-1803)CCC>GCC p.P601A NM_152610 NP_689823 Q8N715 CA065_HUMAN hypothetical protein LOC164127 601 central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0704) GAGAGCGCCTCCCAACAGCTC 0.577 17 17 --- --- --- --- PASS URB2 9816 broad.mit.edu 37 1 229772214 229772214 + Silent SNP T C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr1:229772214T>C uc001hts.1 + 4 1990 c.1854T>C c.(1852-1854)GCT>GCC p.A618A URB2_uc009xfd.1_Silent_p.A618A NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 618 nucleolus central_nervous_system(2)|ovary(1) 3 AGGTGGACGCTATGTTCAGTT 0.562 64 68 --- --- --- --- PASS WDR35 57539 broad.mit.edu 37 2 20137518 20137518 + Silent SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr2:20137518G>T uc002rdi.2 - 20 2394 c.2286C>A c.(2284-2286)CTC>CTA p.L762L WDR35_uc002rdj.2_Silent_p.L751L|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Silent_p.L327L|WDR35_uc002rdk.3_Silent_p.L327L NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN WD repeat domain 35 isoform 1 762 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGTCCATCTCGAGATACGTTC 0.423 4 83 --- --- --- --- PASS UBXN2A 165324 broad.mit.edu 37 2 24222688 24222688 + Missense_Mutation SNP T A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr2:24222688T>A uc010exy.2 + 8 1199 c.731T>A c.(730-732)ATT>AAT p.I244N UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.I244N|UBXN2A_uc010ykj.1_Missense_Mutation_p.I191N NM_181713 NP_859064 P68543 UBX2A_HUMAN UBX domain containing 4 244 UBX. 0 GCTGTCATCATTCAGAGACTC 0.418 10 52 --- --- --- --- PASS C2orf56 55471 broad.mit.edu 37 2 37474646 37474646 + Silent SNP A T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr2:37474646A>T uc002rqa.3 + 9 1059 c.984A>T c.(982-984)ACA>ACT p.T328T C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Silent_p.T230T|C2orf56_uc010ynk.1_Silent_p.T257T|C2orf56_uc010ynl.1_Silent_p.T301T|C2orf56_uc010fah.2_RNA NM_144736 NP_653337 Q7L592 MIDA_HUMAN hypothetical protein LOC55471 isoform 1 328 mitochondrial respiratory chain complex I assembly mitochondrion enzyme binding|methyltransferase activity central_nervous_system(1) 1 all_hematologic(82;0.21) CCCCAGGAACAGCAGATCTAA 0.388 17 43 --- --- --- --- PASS LRRTM1 347730 broad.mit.edu 37 2 80530055 80530055 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr2:80530055G>T uc002sok.1 - 2 1160 c.890C>A c.(889-891)CCC>CAC p.P297H CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 297 LRR 9.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GAGGATCCGGGGCTCGATGTA 0.622 HNSCC(69;0.2) 6 24 --- --- --- --- PASS TMEM131 23505 broad.mit.edu 37 2 98375392 98375392 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr2:98375392C>A uc002syh.3 - 40 5560 c.5331G>T c.(5329-5331)TGG>TGT p.W1777C TMEM131_uc002syg.2_Missense_Mutation_p.W157C NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 1777 Ser-rich. integral to membrane ovary(4)|central_nervous_system(2) 6 AACTGGCTGGCCAGGAAGGAC 0.617 5 6 --- --- --- --- PASS TMEM131 23505 broad.mit.edu 37 2 98375393 98375393 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr2:98375393C>A uc002syh.3 - 40 5559 c.5330G>T c.(5329-5331)TGG>TTG p.W1777L TMEM131_uc002syg.2_Missense_Mutation_p.W157L NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 1777 Ser-rich. integral to membrane ovary(4)|central_nervous_system(2) 6 ACTGGCTGGCCAGGAAGGACT 0.617 6 8 --- --- --- --- PASS MIR128-1 406915 broad.mit.edu 37 2 136422968 136422968 + RNA SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr2:136422968G>C hsa-mir-128-1|MI0000447 + c.2G>C R3HDM1_uc002tuo.2_Intron|R3HDM1_uc010fni.2_Intron|R3HDM1_uc002tup.2_Intron|R3HDM1_uc010zbh.1_Intron|uc010zbi.1_RNA 0 CCTTGTTCCTGAGCTGTTGGA 0.403 5 52 --- --- --- --- PASS MIR128-1 406915 broad.mit.edu 37 2 136423002 136423002 + RNA SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr2:136423002G>C hsa-mir-128-1|MI0000447 + c.36G>C R3HDM1_uc002tuo.2_Intron|R3HDM1_uc010fni.2_Intron|R3HDM1_uc002tup.2_Intron|R3HDM1_uc010zbh.1_Intron|uc010zbi.1_RNA 0 CACTGTCTGAGAGGTTTACAT 0.408 6 48 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141299491 141299491 + Missense_Mutation SNP T A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr2:141299491T>A uc002tvj.1 - 44 8216 c.7244A>T c.(7243-7245)GAC>GTC p.D2415V NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2415 Extracellular (Potential).|LDL-receptor class B 26. 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) TATATAATTGTCATAAACAGC 0.358 TSP Lung(27;0.18) 9 28 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179495591 179495591 + Missense_Mutation SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr2:179495591G>C uc010zfg.1 - 187 36614 c.36390C>G c.(36388-36390)ATC>ATG p.I12130M TTN_uc010zfh.1_Missense_Mutation_p.I5825M|TTN_uc010zfi.1_Missense_Mutation_p.I5758M|TTN_uc010zfj.1_Missense_Mutation_p.I5633M NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 13057 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) CATCTTCAGAGATTTCGGTTT 0.493 19 90 --- --- --- --- PASS FAM171B 165215 broad.mit.edu 37 2 187627145 187627145 + Silent SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr2:187627145G>C uc002ups.2 + 8 2188 c.2076G>C c.(2074-2076)CTG>CTC p.L692L FAM171B_uc002upr.1_Silent_p.L659L|FAM171B_uc002upt.2_Silent_p.L161L NM_177454 NP_803237 Q6P995 F171B_HUMAN KIAA1946 692 Cytoplasmic (Potential). integral to membrane DNA binding ovary(6)|breast(3)|central_nervous_system(1) 10 TTATAGACCTGAAAAAGGGCA 0.507 9 35 --- --- --- --- PASS ASNSD1 54529 broad.mit.edu 37 2 190530930 190530930 + Silent SNP A G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr2:190530930A>G uc002uqt.2 + 4 506 c.72A>G c.(70-72)CTA>CTG p.L24L NM_019048 NP_061921 Q9NWL6 ASND1_HUMAN asparagine synthetase domain containing 1 24 Glutamine amidotransferase type-2. asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) AGGACTTACTATATAATCTTA 0.358 21 53 --- --- --- --- PASS ANKAR 150709 broad.mit.edu 37 2 190569878 190569878 + Missense_Mutation SNP A G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr2:190569878A>G uc002uqw.1 + 7 1625 c.1625A>G c.(1624-1626)TAT>TGT p.Y542C ANKAR_uc002uqu.2_RNA NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 613 ANK 3. integral to membrane binding ovary(2)|pancreas(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) GCCGCTTTCTATGACAACGTT 0.413 25 62 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196756523 196756523 + Silent SNP T G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr2:196756523T>G uc002utj.3 - 31 5003 c.4902A>C c.(4900-4902)CTA>CTC p.L1634L NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1634 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TTTCTTCCATTAGCCCCTTAA 0.239 7 10 --- --- --- --- PASS CCDC150 284992 broad.mit.edu 37 2 197530317 197530317 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr2:197530317G>T uc002utp.1 + 6 807 c.672G>T c.(670-672)AAG>AAT p.K224N CCDC150_uc002uto.1_Missense_Mutation_p.K224N|CCDC150_uc010zgq.1_Intron|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron NM_001080539 NP_001074008 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 224 Potential. 0 CTCAGGAGAAGTACCTTAGGG 0.403 14 23 --- --- --- --- PASS CRYGA 1418 broad.mit.edu 37 2 209027951 209027951 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr2:209027951G>T uc002vcq.3 - 2 246 c.229C>A c.(229-231)CAA>AAA p.Q77K NM_014617 NP_055432 P11844 CRGA_HUMAN crystallin, gamma A 77 Beta/gamma crystallin 'Greek key' 2. visual perception structural constituent of eye lens 0 Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135) CGGCAGGATTGGACCGAGTCG 0.498 20 32 --- --- --- --- PASS CRYGA 1418 broad.mit.edu 37 2 209027952 209027952 + Silent SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr2:209027952G>T uc002vcq.3 - 2 245 c.228C>A c.(226-228)GTC>GTA p.V76V NM_014617 NP_055432 P11844 CRGA_HUMAN crystallin, gamma A 76 Beta/gamma crystallin 'Greek key' 2. visual perception structural constituent of eye lens 0 Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135) GGCAGGATTGGACCGAGTCGC 0.502 20 32 --- --- --- --- PASS TUBA4A 7277 broad.mit.edu 37 2 220115571 220115571 + Nonsense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr2:220115571C>A uc002vkt.1 - 4 908 c.850G>T c.(850-852)GAG>TAG p.E284* TUBA4A_uc010zkz.1_Nonsense_Mutation_p.E269*|TUBA4B_uc002vku.2_5'Flank|TUBA4B_uc002vkv.1_5'Flank NM_006000 NP_005991 P68366 TBA4A_HUMAN tubulin, alpha 4a 284 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization cytosol|extracellular region|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3) 3 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GACAGCTGCTCGTGGTATGCC 0.582 4 81 --- --- --- --- PASS MOGAT1 116255 broad.mit.edu 37 2 223559869 223559869 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr2:223559869C>A uc010fws.1 + 5 763 c.715C>A c.(715-717)CCT>ACT p.P239T MOGAT1_uc010fwt.1_Missense_Mutation_p.P199T NM_058165 NP_477513 Q96PD6 MOGT1_HUMAN monoacylglycerol O-acyltransferase 1 239 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity breast(1) 1 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105) AACTGACAACCCTGAAGGATC 0.423 8 22 --- --- --- --- PASS ING5 84289 broad.mit.edu 37 2 242662685 242662685 + Missense_Mutation SNP T C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr2:242662685T>C uc002wcd.2 + 7 704 c.679T>C c.(679-681)TGG>CGG p.W227R NM_032329 NP_115705 Q8WYH8 ING5_HUMAN inhibitor of growth family, member 5 227 PHD-type. DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) CAAAGGAAAATGGTGAGTGTG 0.552 38 108 --- --- --- --- PASS NEU4 129807 broad.mit.edu 37 2 242755806 242755806 + Missense_Mutation SNP A G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr2:242755806A>G uc010fzr.2 + 2 211 c.125A>G c.(124-126)CAG>CGG p.Q42R NEU4_uc002wcl.2_RNA|NEU4_uc002wcm.2_Missense_Mutation_p.Q42R|NEU4_uc002wcn.1_Missense_Mutation_p.Q54R|NEU4_uc002wco.1_Missense_Mutation_p.Q42R|NEU4_uc002wcp.1_Missense_Mutation_p.Q54R NM_080741 NP_542779 Q8WWR8 NEUR4_HUMAN sialidase 4 42 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) TTTGTGGAGCAGCGGCTCAGC 0.741 3 5 --- --- --- --- PASS EFHB 151651 broad.mit.edu 37 3 19924172 19924172 + Missense_Mutation SNP C T T rs149572350 byFrequency TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr3:19924172C>T uc003cbl.3 - 12 2394 c.2198G>A c.(2197-2199)CGA>CAA p.R733Q EFHB_uc003cbm.2_Missense_Mutation_p.R603Q NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN EF hand domain family, member B 733 signal transduction proteinaceous extracellular matrix calcium ion binding 0 GCGACGAATTCGGGGAGCAGG 0.403 15 14 --- --- --- --- PASS TRANK1 9881 broad.mit.edu 37 3 36898233 36898233 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr3:36898233G>T uc003cgj.2 - 3 1500 c.1198C>A c.(1198-1200)CGC>AGC p.R400S NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 950 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 ACATAGCAGCGAGGTATACGC 0.498 5 126 --- --- --- --- PASS CSPG5 10675 broad.mit.edu 37 3 47618715 47618715 + Silent SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr3:47618715G>T uc003crp.3 - 2 977 c.801C>A c.(799-801)CCC>CCA p.P267P CSPG5_uc003crn.2_Silent_p.P129P|CSPG5_uc003cro.3_Silent_p.P267P|CSPG5_uc011bbb.1_Silent_p.P129P NM_006574 NP_006565 O95196 CSPG5_HUMAN chondroitin sulfate proteoglycan 5 (neuroglycan 267 Interaction with TNC and TNR (By similarity).|Extracellular (Potential). cell differentiation|intracellular transport|nervous system development|regulation of growth endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction growth factor activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) AGGATGTGGTGGGGTAGAAAT 0.343 3 6 --- --- --- --- PASS GRM2 2912 broad.mit.edu 37 3 51749755 51749755 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr3:51749755C>A uc010hlv.2 + 4 2205 c.1966C>A c.(1966-1968)CGC>AGC p.R656S GRM2_uc003dbo.3_Missense_Mutation_p.R38S|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 656 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) CAAGACCAACCGCATTGCACG 0.612 15 6 --- --- --- --- PASS TWF2 11344 broad.mit.edu 37 3 52265552 52265552 + Missense_Mutation SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr3:52265552G>C uc003ddd.2 - 4 437 c.286C>G c.(286-288)CGG>GGG p.R96G TLR9_uc003ddb.2_5'Flank|TLR9_uc003ddc.1_5'Flank|TWF2_uc010hmc.2_Missense_Mutation_p.R96G NM_007284 NP_009215 Q6IBS0 TWF2_HUMAN twinfilin-like protein 96 ADF-H 1. cytoskeleton|perinuclear region of cytoplasm actin binding|ATP binding stomach(1)|ovary(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) ATCTTCAGCCGCACCTGAAGG 0.607 OREG0015610 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 29 --- --- --- --- PASS OR5AC2 81050 broad.mit.edu 37 3 97806719 97806719 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr3:97806719G>T uc011bgs.1 + 1 703 c.703G>T c.(703-705)GGC>TGC p.G235C NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, 235 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GTCTGAAAAGGGCAGAAGCAA 0.398 22 19 --- --- --- --- PASS DCBLD2 131566 broad.mit.edu 37 3 98518583 98518583 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr3:98518583G>T uc003dtd.2 - 16 2324 c.1961C>A c.(1960-1962)CCT>CAT p.P654H DCBLD2_uc003dte.2_Missense_Mutation_p.P668H NM_080927 NP_563615 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 654 Cytoplasmic (Potential). cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing cell surface|integral to plasma membrane ovary(2)|central_nervous_system(1) 3 TGAGTTGTAAGGATCTAGGTC 0.468 5 72 --- --- --- --- PASS BTLA 151888 broad.mit.edu 37 3 112198390 112198390 + Silent SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr3:112198390C>G uc003dza.3 - 2 518 c.315G>C c.(313-315)GTG>GTC p.V105V BTLA_uc003dzb.3_Silent_p.V105V NM_181780 NP_861445 Q7Z6A9 BTLA_HUMAN B and T lymphocyte associated isoform 1 105 Ig-like V-type.|Extracellular (Potential). V -> M (in Ref. 1; AAP44003). T cell costimulation receptor activity 0 Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361) CATTAGGAAGCACTGGTTCAA 0.373 58 103 --- --- --- --- PASS ATP6V1A 523 broad.mit.edu 37 3 113524215 113524215 + Missense_Mutation SNP A G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr3:113524215A>G uc003eao.2 + 14 1670 c.1604A>G c.(1603-1605)TAC>TGC p.Y535C ATP6V1A_uc011bik.1_Missense_Mutation_p.Y502C NM_001690 NP_001681 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal V1 subunit A 535 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism ovary(2)|skin(1) 3 TGCCCATTCTACAAGACAGTA 0.363 21 35 --- --- --- --- PASS IQCB1 9657 broad.mit.edu 37 3 121489331 121489331 + Missense_Mutation SNP T C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr3:121489331T>C uc010hre.1 - 15 1873 c.1658A>G c.(1657-1659)CAT>CGT p.H553R IQCB1_uc003eek.2_Missense_Mutation_p.H420R|IQCB1_uc010hrf.1_RNA NM_001023570 NP_001018864 Q15051 IQCB1_HUMAN IQ motif containing B1 isoform a 553 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding 0 GBM - Glioblastoma multiforme(114;0.0983) GGTTGTGAGATGGGCCTGCTT 0.502 42 72 --- --- --- --- PASS HEG1 57493 broad.mit.edu 37 3 124738345 124738345 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr3:124738345C>A uc003ehs.3 - 5 1417 c.1349G>T c.(1348-1350)AGA>ATA p.R450I HEG1_uc011bke.1_Missense_Mutation_p.R450I NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor 450 Extracellular (Potential). extracellular region|integral to membrane calcium ion binding ovary(2) 2 CTCTCCACCTCTCATGGGTGC 0.507 7 250 --- --- --- --- PASS COL6A6 131873 broad.mit.edu 37 3 130305389 130305389 + Missense_Mutation SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr3:130305389C>T uc010htl.2 + 10 4041 c.4010C>T c.(4009-4011)GCT>GTT p.A1337V COL6A6_uc003eni.3_5'UTR NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1337 VWFA 7.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 GATGGACCTGCTGATTCAAGT 0.448 78 115 --- --- --- --- PASS ESYT3 83850 broad.mit.edu 37 3 138189849 138189849 + Missense_Mutation SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr3:138189849C>T uc003esk.2 + 17 1947 c.1721C>T c.(1720-1722)TCC>TTC p.S574F ESYT3_uc010hug.2_RNA NM_031913 NP_114119 A0FGR9 ESYT3_HUMAN family with sequence similarity 62 (C2 domain 574 integral to membrane|plasma membrane 0 AGCCTCATCTCCATGAGGCTG 0.597 11 67 --- --- --- --- PASS PLCH1 23007 broad.mit.edu 37 3 155208639 155208639 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr3:155208639C>G uc011bok.1 - 18 2567 c.2290G>C c.(2290-2292)GAA>CAA p.E764Q PLCH1_uc011boj.1_Missense_Mutation_p.E764Q|PLCH1_uc011bol.1_Missense_Mutation_p.E746Q NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 764 C2. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) ATTTCAACTTCAACAAAAGGG 0.299 11 39 --- --- --- --- PASS PLD1 5337 broad.mit.edu 37 3 171377037 171377037 + Missense_Mutation SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr3:171377037C>T uc003fhs.2 - 21 2511 c.2395G>A c.(2395-2397)GAT>AAT p.D799N PLD1_uc003fht.2_Missense_Mutation_p.D761N|PLD1_uc003fhu.3_Missense_Mutation_p.D93N|PLD1_uc003fhv.1_Missense_Mutation_p.D124N NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 799 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) GCAATGGCATCGCCTATCTTG 0.388 24 229 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G A A rs104886003 TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 5 38 --- --- --- --- PASS MAP3K13 9175 broad.mit.edu 37 3 185181425 185181425 + Silent SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr3:185181425C>A uc010hyf.2 + 9 1632 c.1366C>A c.(1366-1368)CGA>AGA p.R456R MAP3K13_uc011brt.1_Silent_p.R249R|MAP3K13_uc011bru.1_Silent_p.R312R|MAP3K13_uc003fpi.2_Silent_p.R456R|MAP3K13_uc010hyg.2_Silent_p.R146R NM_004721 NP_004712 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 456 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding ovary(2)|skin(1) 3 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AGAACTGATTCGAAGGCGCAG 0.468 4 103 --- --- --- --- PASS LSG1 55341 broad.mit.edu 37 3 194379714 194379714 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr3:194379714C>G uc003fui.2 - 7 1046 c.731G>C c.(730-732)GGA>GCA p.G244A NM_018385 NP_060855 Q9H089 LSG1_HUMAN large subunit GTPase 1 244 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity 0 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) GGGAATGGCTCCGGCCAAAGC 0.463 47 153 --- --- --- --- PASS WDR53 348793 broad.mit.edu 37 3 196281625 196281625 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr3:196281625C>A uc003fwt.2 - 4 1005 c.534G>T c.(532-534)CAG>CAT p.Q178H NM_182627 NP_872433 Q7Z5U6 WDR53_HUMAN WD repeat domain 53 178 breast(1)|skin(1) 2 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) TTTCATCCTCCTGTAAATTTG 0.428 6 187 --- --- --- --- PASS LRCH3 84859 broad.mit.edu 37 3 197592992 197592992 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr3:197592992C>G uc011bul.1 + 17 1780 c.1775C>G c.(1774-1776)TCC>TGC p.S592C LRCH3_uc003fyj.1_Missense_Mutation_p.S592C|LRCH3_uc011bum.1_Missense_Mutation_p.S540C|LRCH3_uc011bun.1_Missense_Mutation_p.S438C|LRCH3_uc003fyk.2_Missense_Mutation_p.S187C NM_032773 NP_116162 Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) 592 extracellular region ovary(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) GTTCATCATTCCCCTGCATAT 0.368 25 50 --- --- --- --- PASS HTT 3064 broad.mit.edu 37 4 3208226 3208226 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr4:3208226C>G uc011bvq.1 + 44 5873 c.5728C>G c.(5728-5730)CAG>GAG p.Q1910E NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 1908 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) TCCTTAGTGTCAGAACCTCCA 0.423 13 63 --- --- --- --- PASS JAKMIP1 152789 broad.mit.edu 37 4 6043916 6043916 + Silent SNP G A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr4:6043916G>A uc010idb.1 - 17 2553 c.2067C>T c.(2065-2067)ACC>ACT p.T689T JAKMIP1_uc010idc.1_Silent_p.T504T|JAKMIP1_uc010idd.1_Intron NM_001099433 NP_001092903 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 GCATCTTCTGGGTCAGGGCGG 0.557 28 38 --- --- --- --- PASS BOD1L 259282 broad.mit.edu 37 4 13601318 13601318 + Silent SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr4:13601318C>G uc003gmz.1 - 10 7323 c.7206G>C c.(7204-7206)GTG>GTC p.V2402V BOD1L_uc010idr.1_Silent_p.V1739V NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 2402 DNA binding ovary(5)|breast(1) 6 CCTCGGTGCTCACTGCCAACA 0.587 5 120 --- --- --- --- PASS LAP3 51056 broad.mit.edu 37 4 17590574 17590574 + Silent SNP T C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr4:17590574T>C uc003gph.1 + 7 999 c.837T>C c.(835-837)TTT>TTC p.F279F NM_015907 NP_056991 P28838 AMPL_HUMAN leucine aminopeptidase 3 279 proteolysis nucleus aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding 0 CCCTGGTGTTTGTTGGGAAAG 0.433 27 40 --- --- --- --- PASS TBC1D19 55296 broad.mit.edu 37 4 26667970 26667970 + Nonsense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr4:26667970G>T uc003gsf.3 + 9 877 c.607G>T c.(607-609)GAA>TAA p.E203* TBC1D19_uc010iew.2_Nonsense_Mutation_p.E203*|TBC1D19_uc011bxu.1_Nonsense_Mutation_p.E138* NM_018317 NP_060787 Q8N5T2 TBC19_HUMAN TBC1 domain family, member 19 203 intracellular Rab GTPase activator activity breast(1) 1 Breast(46;0.0503) ATGCTTTGTGGAACTTGGCTT 0.343 12 54 --- --- --- --- PASS GNPDA2 132789 broad.mit.edu 37 4 44705119 44705119 + Silent SNP G A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr4:44705119G>A uc003gwy.2 - 7 967 c.810C>T c.(808-810)TTC>TTT p.F270F GNPDA2_uc010iga.2_Silent_p.F236F|GNPDA2_uc011bzb.1_Silent_p.F200F NM_138335 NP_612208 Q8TDQ7 GNPI2_HUMAN glucosamine-6-phosphate deaminase 2 270 N-acetylglucosamine metabolic process cytoplasm glucosamine-6-phosphate deaminase activity|hydrolase activity ovary(1) 1 CTTTCATACTGAATAGTGGAT 0.323 10 32 --- --- --- --- PASS CLOCK 9575 broad.mit.edu 37 4 56316315 56316315 + Missense_Mutation SNP A C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr4:56316315A>C uc003haz.1 - 17 2217 c.1291T>G c.(1291-1293)TCT>GCT p.S431A CLOCK_uc003hba.1_Missense_Mutation_p.S431A|CLOCK_uc010igu.1_5'Flank NM_004898 NP_004889 O15516 CLOCK_HUMAN clock 431 circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) GAAGAGGCAGAAGGGGTTGGG 0.458 25 52 --- --- --- --- PASS REST 5978 broad.mit.edu 37 4 57797217 57797217 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr4:57797217G>T uc003hch.2 + 4 2540 c.2193G>T c.(2191-2193)ATG>ATT p.M731I REST_uc003hci.2_Missense_Mutation_p.M731I|REST_uc010ihf.2_Missense_Mutation_p.M405I NM_005612 NP_005603 Q13127 REST_HUMAN RE1-silencing transcription factor 731 Pro-rich. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 9 Glioma(25;0.08)|all_neural(26;0.181) CTGTTCAGATGGAGCTGTCTC 0.562 8 326 --- --- --- --- PASS EPHA5 2044 broad.mit.edu 37 4 66270172 66270172 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr4:66270172G>T uc003hcy.2 - 8 1903 c.1710C>A c.(1708-1710)AGC>AGA p.S570R EPHA5_uc003hcx.2_Missense_Mutation_p.S502R|EPHA5_uc003hcz.2_Missense_Mutation_p.S570R|EPHA5_uc011cah.1_Missense_Mutation_p.S571R|EPHA5_uc011cai.1_Missense_Mutation_p.S571R|EPHA5_uc003hda.2_Missense_Mutation_p.S571R NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 570 Extracellular (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 CAGGAATCTGGCTTTGATCGC 0.438 TSP Lung(17;0.13) 25 32 --- --- --- --- PASS ALB 213 broad.mit.edu 37 4 74279238 74279238 + Silent SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr4:74279238C>T uc003hgs.3 + 8 1018 c.945C>T c.(943-945)GCC>GCT p.A315A ALB_uc003hgw.3_Silent_p.A123A|ALB_uc011cbe.1_5'UTR|ALB_uc003hgt.3_Silent_p.A315A|ALB_uc010iii.2_Silent_p.A200A|ALB_uc003hgu.3_Silent_p.A165A|ALB_uc003hgv.3_5'UTR|ALB_uc011cbf.1_Silent_p.A205A|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'UTR NM_000477 NP_000468 P02768 ALBU_HUMAN albumin preproprotein 315 Albumin 2. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding ovary(3)|skin(3) 6 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) ACTGCATTGCCGAAGTGGAAA 0.418 4 105 --- --- --- --- PASS TSPAN5 10098 broad.mit.edu 37 4 99408000 99408000 + Silent SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr4:99408000G>T uc003hub.2 - 3 518 c.168C>A c.(166-168)CTC>CTA p.L56L TSPAN5_uc011cdz.1_5'UTR NM_005723 NP_005714 P62079 TSN5_HUMAN transmembrane 4 superfamily member 9 56 Extracellular (Potential). integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(123;1.89e-07) CAAAGCCGCCGAGATCGGTGA 0.512 5 129 --- --- --- --- PASS TACR3 6870 broad.mit.edu 37 4 104640772 104640772 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr4:104640772C>A uc003hxe.1 - 1 204 c.61G>T c.(61-63)GCC>TCC p.A21S NM_001059 NP_001050 P29371 NK3R_HUMAN tachykinin receptor 3 21 Extracellular (Potential). integral to plasma membrane tachykinin receptor activity ovary(3)|lung(2)|breast(1)|skin(1) 7 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) AGGTTCACGGCGTCTGCACCC 0.677 7 18 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114257120 114257120 + Silent SNP A T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr4:114257120A>T uc003ibe.3 + 30 3598 c.3498A>T c.(3496-3498)CCA>CCT p.P1166P ANK2_uc003ibd.3_Silent_p.P1157P|ANK2_uc003ibf.3_Silent_p.P1166P|ANK2_uc011cgc.1_Silent_p.P342P|ANK2_uc003ibg.3_Silent_p.P161P|ANK2_uc003ibc.2_Silent_p.P1142P|ANK2_uc011cgb.1_Silent_p.P1181P NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1133 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TGATTGGCCCAGAAGGAGGTG 0.567 28 48 --- --- --- --- PASS PRDM5 11107 broad.mit.edu 37 4 121828652 121828652 + Missense_Mutation SNP T C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr4:121828652T>C uc003idn.2 - 2 404 c.154A>G c.(154-156)ATG>GTG p.M52V PRDM5_uc003ido.2_Missense_Mutation_p.M52V|PRDM5_uc010ine.2_Missense_Mutation_p.M52V|PRDM5_uc010inf.2_Missense_Mutation_p.M52V|PRDM5_uc003idp.1_Missense_Mutation_p.M52V NM_018699 NP_061169 Q9NQX1 PRDM5_HUMAN PR domain containing 5 52 SET. histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 CTGTAATCCATATTTTCATCC 0.333 24 50 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123156042 123156042 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr4:123156042C>G uc003ieh.2 + 25 3483 c.3438C>G c.(3436-3438)TTC>TTG p.F1146L KIAA1109_uc003iei.1_Missense_Mutation_p.F899L|KIAA1109_uc010ins.1_Missense_Mutation_p.F489L NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 1146 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 TAGATTTCTTCAAACTTGAAG 0.443 8 66 --- --- --- --- PASS PHF17 79960 broad.mit.edu 37 4 129767537 129767537 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr4:129767537G>T uc003igk.2 + 4 426 c.146G>T c.(145-147)AGG>ATG p.R49M PHF17_uc003igj.2_Missense_Mutation_p.R49M|PHF17_uc003igl.2_Missense_Mutation_p.R49M|PHF17_uc011cgy.1_Missense_Mutation_p.R49M|PHF17_uc003igm.2_Missense_Mutation_p.R49M NM_199320 NP_955352 Q6IE81 JADE1_HUMAN PHD finger protein 17 long isoform 49 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding 0 CAGGTGTTTAGGACAGACCTG 0.468 6 113 --- --- --- --- PASS TBC1D9 23158 broad.mit.edu 37 4 141592024 141592024 + Missense_Mutation SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr4:141592024G>C uc010ioj.2 - 7 1388 c.1116C>G c.(1114-1116)ATC>ATG p.I372M NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 372 intracellular calcium ion binding|Rab GTPase activator activity ovary(1) 1 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) TTCGGGTGCTGATGGATAAGG 0.433 27 125 --- --- --- --- PASS FHDC1 85462 broad.mit.edu 37 4 153893693 153893693 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr4:153893693G>T uc003inf.2 + 10 1458 c.1383G>T c.(1381-1383)AAG>AAT p.K461N NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 461 FH2. actin cytoskeleton organization actin binding large_intestine(1)|ovary(1) 2 all_hematologic(180;0.093) AAGCAGTTAAGGTACATCTGG 0.383 6 100 --- --- --- --- PASS RAPGEF2 9693 broad.mit.edu 37 4 160267955 160267955 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr4:160267955G>T uc003iqg.3 + 19 3344 c.3034G>T c.(3034-3036)GGT>TGT p.G1012C NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 1012 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) TAAGAATCCTGGTGACAAAAA 0.458 6 162 --- --- --- --- PASS NEK1 4750 broad.mit.edu 37 4 170428227 170428227 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr4:170428227C>A uc003isb.1 - 21 2376 c.1884G>T c.(1882-1884)AAG>AAT p.K628N NEK1_uc003isc.1_Missense_Mutation_p.K584N|NEK1_uc003isd.1_Missense_Mutation_p.K656N|NEK1_uc003ise.1_Missense_Mutation_p.K612N|NEK1_uc003isf.1_Missense_Mutation_p.K559N NM_012224 NP_036356 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 628 cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(3)|ovary(2)|large_intestine(1) 6 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) CATAAGCCTCCTTTCTCTTTC 0.358 16 18 --- --- --- --- PASS ODZ3 55714 broad.mit.edu 37 4 183245358 183245358 + Missense_Mutation SNP G A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr4:183245358G>A uc003ivd.1 + 1 222 c.185G>A c.(184-186)AGA>AAA p.R62K ODZ3_uc010irv.1_Missense_Mutation_p.R62K NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 62 Cytoplasmic (Potential).|Teneurin N-terminal. signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) TACGGCAACAGAGTGAAGGAT 0.473 4 73 --- --- --- --- PASS ZDHHC11 79844 broad.mit.edu 37 5 837482 837482 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr5:837482G>T uc011cma.1 - 6 1282 c.898C>A c.(898-900)CAG>AAG p.Q300K ZDHHC11_uc003jbj.2_RNA|ZDHHC11_uc010itd.1_RNA NM_024786 NP_079062 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 300 integral to membrane acyltransferase activity|zinc ion binding skin(1)|pancreas(1) 2 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GGTGGTACCTGGAGAACTCCT 0.483 6 134 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 22078737 22078737 + Nonsense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr5:22078737C>A uc010iuc.2 - 2 507 c.49G>T c.(49-51)GGA>TGA p.G17* CDH12_uc011cno.1_Nonsense_Mutation_p.G17*|CDH12_uc003jgk.2_Nonsense_Mutation_p.G17* NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 17 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 AGGAGACCTCCATCAAACAGA 0.453 HNSCC(59;0.17) 6 145 --- --- --- --- PASS PDZD2 23037 broad.mit.edu 37 5 31983569 31983569 + Missense_Mutation SNP A G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr5:31983569A>G uc003jhl.2 + 3 1173 c.785A>G c.(784-786)CAT>CGT p.H262R PDZD2_uc003jhm.2_Missense_Mutation_p.H262R|PDZD2_uc011cnx.1_Missense_Mutation_p.H88R NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 262 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 GGAAACGGCCATGTCTTTCAG 0.557 37 52 --- --- --- --- PASS PDZD2 23037 broad.mit.edu 37 5 32088214 32088214 + Missense_Mutation SNP G A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr5:32088214G>A uc003jhl.2 + 20 5048 c.4660G>A c.(4660-4662)GAT>AAT p.D1554N PDZD2_uc003jhm.2_Missense_Mutation_p.D1554N NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 1554 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 CATGTATGGCGATGCTGAGGA 0.542 20 50 --- --- --- --- PASS UGT3A1 133688 broad.mit.edu 37 5 35955849 35955849 + Missense_Mutation SNP A T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr5:35955849A>T uc003jjv.1 - 6 1350 c.1193T>A c.(1192-1194)ATG>AAG p.M398K UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.M398K|UGT3A1_uc011cor.1_Missense_Mutation_p.M364K NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 398 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TACTCGGACCATGTTTCCATG 0.478 38 59 --- --- --- --- PASS NUP155 9631 broad.mit.edu 37 5 37350302 37350302 + Silent SNP G A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr5:37350302G>A uc003jku.1 - 7 907 c.789C>T c.(787-789)TTC>TTT p.F263F NUP155_uc003jkt.1_Silent_p.F204F|NUP155_uc010iuz.1_Silent_p.F263F NM_153485 NP_705618 O75694 NU155_HUMAN nucleoporin 155kDa isoform 1 263 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity ovary(1) 1 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAGGAACAAGGAAAGAAAGTG 0.358 10 73 --- --- --- --- PASS C9 735 broad.mit.edu 37 5 39316013 39316013 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr5:39316013G>T uc003jlv.3 - 6 823 c.734C>A c.(733-735)CCC>CAC p.P245H NM_001737 NP_001728 P02748 CO9_HUMAN complement component 9 precursor 245 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex 0 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TGTTTCAGTGGGTGTAAATTT 0.333 5 64 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45262343 45262343 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr5:45262343G>T uc003jok.2 - 8 2378 c.2353C>A c.(2353-2355)CCA>ACA p.P785T NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 785 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 GCGGAGAGTGGCCTGACTTCC 0.627 9 28 --- --- --- --- PASS CCDC125 202243 broad.mit.edu 37 5 68616126 68616126 + Missense_Mutation SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr5:68616126C>T uc003jvv.1 - 1 285 c.242G>A c.(241-243)AGC>AAC p.S81N CCDC125_uc003jvx.1_Missense_Mutation_p.S81N|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_5'UTR|CCDC125_uc003jvz.1_Missense_Mutation_p.S81N NM_176816 NP_789786 Q86Z20 CC125_HUMAN coiled-coil domain containing 125 81 cytoplasm 0 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) ATCTTGCTGGCTCTTATGCTT 0.408 66 47 --- --- --- --- PASS BDP1 55814 broad.mit.edu 37 5 70856009 70856009 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr5:70856009C>G uc003kbp.1 + 37 7704 c.7441C>G c.(7441-7443)CCT>GCT p.P2481A BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 2481 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TGATGCTGCTCCTAAGTCTCA 0.403 10 25 --- --- --- --- PASS MCC 4163 broad.mit.edu 37 5 112363013 112363013 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr5:112363013C>G uc003kqj.3 - 17 3006 c.2476G>C c.(2476-2478)GAA>CAA p.E826Q MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.E1016Q NM_002387 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers isoform 2 826 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) AGCGAAGTTTCATTGGTGTGT 0.532 13 28 --- --- --- --- PASS FEM1C 56929 broad.mit.edu 37 5 114879045 114879045 + Missense_Mutation SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr5:114879045G>C uc003krb.1 - 2 708 c.146C>G c.(145-147)GCC>GGC p.A49G NM_020177 NP_064562 Q96JP0 FEM1C_HUMAN feminization 1 homolog a 49 ANK 2. cytoplasm breast(2)|ovary(1) 3 all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05) CCCATACCTGGCGGCCATCAA 0.507 17 6 --- --- --- --- PASS AFAP1L1 134265 broad.mit.edu 37 5 148700003 148700003 + Missense_Mutation SNP G A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr5:148700003G>A uc003lqh.2 + 14 1806 c.1675G>A c.(1675-1677)GAT>AAT p.D559N AFAP1L1_uc010jgy.2_Missense_Mutation_p.D559N|AFAP1L1_uc003lqi.1_Missense_Mutation_p.D174N NM_152406 NP_689619 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 559 protein binding breast(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTCTATGATGATGTTCCTTA 0.428 11 21 --- --- --- --- PASS GRM6 2916 broad.mit.edu 37 5 178413281 178413281 + Silent SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr5:178413281G>T uc003mjr.2 - 8 2153 c.1974C>A c.(1972-1974)GGC>GGA p.G658G GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Silent_p.G241G|GRM6_uc003mjs.1_Silent_p.G278G NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 658 Helical; Name=3; (Potential). detection of visible light|visual perception integral to plasma membrane lung(4)|ovary(2)|breast(1)|pancreas(1) 8 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) TCGTGCCCAGGCCCAGGAAGA 0.637 7 3 --- --- --- --- PASS ZNF192 7745 broad.mit.edu 37 6 28116249 28116249 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr6:28116249C>G uc003nkn.1 + 2 248 c.64C>G c.(64-66)CTT>GTT p.L22V ZNF192_uc010jqx.1_Missense_Mutation_p.L22V|ZNF192_uc010jqy.1_Translation_Start_Site|ZNF192_uc011dkz.1_Translation_Start_Site NM_006298 NP_006289 Q15776 ZN192_HUMAN zinc finger protein 192 22 viral reproduction cytoplasm|nucleolus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TGAAGAGGATCTTGTAATCGT 0.502 13 57 --- --- --- --- PASS GPX5 2880 broad.mit.edu 37 6 28499635 28499635 + Missense_Mutation SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr6:28499635G>C uc003nll.2 + 3 324 c.322G>C c.(322-324)GAA>CAA p.E108Q GPX5_uc003nlm.2_Intron|GPX5_uc003nln.2_Intron NM_001509 NP_001500 O75715 GPX5_HUMAN glutathione peroxidase 5 isoform 1 precursor 108 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity skin(1) 1 Glutathione(DB00143) TGGAAAGCAAGAACCAGGAGA 0.488 42 156 --- --- --- --- PASS HLA-B 3106 broad.mit.edu 37 6 31322940 31322940 + Missense_Mutation SNP G T T rs9264619 TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr6:31322940G>T uc003nth.2 - 5 1010 c.956C>A c.(955-957)GCA>GAA p.A319E HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Missense_Mutation_p.A198E|HLA-B_uc003nti.1_Intron NM_005514 NP_005505 P01889 1B07_HUMAN major histocompatibility complex, class I, B 319 Helical; (Potential). antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity 0 GACCACAACTGCTAGGACAGC 0.607 Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of 23 54 --- --- --- --- PASS LTB 4050 broad.mit.edu 37 6 31548838 31548838 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr6:31548838G>T uc003nuk.2 - 4 391 c.383C>A c.(382-384)CCG>CAG p.P128Q LTB_uc003nul.2_3'UTR NM_002341 NP_002332 Q06643 TNFC_HUMAN lymphotoxin-beta isoform a 128 Extracellular (Potential). cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding 0 Infliximab(DB00065)|Simvastatin(DB00641) GCCGTCCTGCGGGAGCGCCAG 0.582 3 6 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38854590 38854590 + Missense_Mutation SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr6:38854590G>C uc003ooe.1 + 55 8232 c.7632G>C c.(7630-7632)CAG>CAC p.Q2544H 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 TTGTGCGACAGATGATGGAAA 0.378 18 56 --- --- --- --- PASS C6orf153 88745 broad.mit.edu 37 6 42996841 42996841 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr6:42996841C>A uc003otp.1 + 7 663 c.655C>A c.(655-657)CAG>AAG p.Q219K NM_033112 NP_149103 Q96EU6 RRP36_HUMAN hypothetical protein LOC88745 219 ribosomal small subunit biogenesis|rRNA processing nucleolus 0 Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) TGAGCAGCGCCAGTTGGCACT 0.483 7 222 --- --- --- --- PASS RIMS1 22999 broad.mit.edu 37 6 72975123 72975123 + Silent SNP A G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr6:72975123A>G uc003pga.2 + 21 3302 c.3225A>G c.(3223-3225)AAA>AAG p.K1075K RIMS1_uc011dyb.1_Intron|RIMS1_uc003pgc.2_Intron|RIMS1_uc010kaq.2_Intron|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Intron|RIMS1_uc011dyd.1_Intron|RIMS1_uc003pgf.2_Intron|RIMS1_uc003pgg.2_Intron|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Intron|RIMS1_uc003pgd.2_Intron|RIMS1_uc003pge.2_Intron|RIMS1_uc011dye.1_Intron|RIMS1_uc011dyf.1_Intron|RIMS1_uc010kas.1_Intron NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1075 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) CTAAGACCAAATCAGTGACTA 0.289 27 28 --- --- --- --- PASS FILIP1 27145 broad.mit.edu 37 6 76023089 76023089 + Missense_Mutation SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr6:76023089G>C uc003pia.2 - 5 2832 c.2459C>G c.(2458-2460)CCA>CGA p.P820R FILIP1_uc003phy.1_Missense_Mutation_p.P820R|FILIP1_uc003phz.2_Missense_Mutation_p.P721R|FILIP1_uc010kbe.2_Missense_Mutation_p.P823R|FILIP1_uc003pib.1_Missense_Mutation_p.P572R NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 820 skin(3)|ovary(1) 4 GAATACAGCTGGCGTTTCTTC 0.463 5 133 --- --- --- --- PASS IBTK 25998 broad.mit.edu 37 6 82882108 82882108 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr6:82882108C>A uc003pjl.1 - 28 4446 c.3919G>T c.(3919-3921)GCT>TCT p.A1307S IBTK_uc011dyu.1_Missense_Mutation_p.A258S|IBTK_uc011dyv.1_Missense_Mutation_p.A1292S|IBTK_uc011dyw.1_Missense_Mutation_p.A1106S|IBTK_uc010kbi.1_Missense_Mutation_p.A1001S NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN inhibitor of Bruton's tyrosine kinase 1307 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity ovary(2)|central_nervous_system(2) 4 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) TGAATCAGAGCCAACGGTTTT 0.373 5 31 --- --- --- --- PASS IBTK 25998 broad.mit.edu 37 6 82882109 82882109 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr6:82882109C>A uc003pjl.1 - 28 4445 c.3918G>T c.(3916-3918)TTG>TTT p.L1306F IBTK_uc011dyu.1_Missense_Mutation_p.L257F|IBTK_uc011dyv.1_Missense_Mutation_p.L1291F|IBTK_uc011dyw.1_Missense_Mutation_p.L1105F|IBTK_uc010kbi.1_Missense_Mutation_p.L1000F NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN inhibitor of Bruton's tyrosine kinase 1306 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity ovary(2)|central_nervous_system(2) 4 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) GAATCAGAGCCAACGGTTTTT 0.368 5 30 --- --- --- --- PASS IBTK 25998 broad.mit.edu 37 6 82922461 82922461 + Missense_Mutation SNP T C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr6:82922461T>C uc003pjl.1 - 13 2781 c.2254A>G c.(2254-2256)AAC>GAC p.N752D IBTK_uc011dyv.1_Missense_Mutation_p.N752D|IBTK_uc011dyw.1_Missense_Mutation_p.N551D|IBTK_uc010kbi.1_Missense_Mutation_p.N446D|IBTK_uc003pjm.2_Missense_Mutation_p.N752D NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN inhibitor of Bruton's tyrosine kinase 752 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity ovary(2)|central_nervous_system(2) 4 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) TTACCAGTGTTCTTGGCAATA 0.299 6 32 --- --- --- --- PASS QRSL1 55278 broad.mit.edu 37 6 107111000 107111000 + Missense_Mutation SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr6:107111000G>C uc003prm.2 + 10 1422 c.1306G>C c.(1306-1308)GAG>CAG p.E436Q NM_018292 NP_060762 Q9H0R6 QRSL1_HUMAN glutaminyl-tRNA synthase 436 translation ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor 0 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248) Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152) BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176) GTTCATCAAAGAGGACAACAG 0.413 13 29 --- --- --- --- PASS FAM54A 113115 broad.mit.edu 37 6 136560824 136560824 + Missense_Mutation SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr6:136560824G>C uc010kgp.1 - 6 1039 c.649C>G c.(649-651)CAG>GAG p.Q217E FAM54A_uc003qgt.1_Missense_Mutation_p.Q217E|FAM54A_uc003qgu.1_Missense_Mutation_p.Q174E NM_001099286 NP_001092756 Q6P444 FA54A_HUMAN DUF729 domain containing 1 217 Pro-rich. skin(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00228)|OV - Ovarian serous cystadenocarcinoma(155;0.00504) GATGAAAACTgaggaggaagt 0.408 7 29 --- --- --- --- PASS NUP43 348995 broad.mit.edu 37 6 150067096 150067096 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr6:150067096C>A uc003qmz.2 - 2 280 c.223G>T c.(223-225)GGT>TGT p.G75C NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Missense_Mutation_p.G75C NM_198887 NP_942590 Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 75 WD 2. carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding upper_aerodigestive_tract(1) 1 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101) ATTACATCACCATGGTGTCTG 0.353 84 74 --- --- --- --- PASS C6orf211 79624 broad.mit.edu 37 6 151773689 151773689 + Silent SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr6:151773689C>A uc003qok.1 + 1 268 c.9C>A c.(7-9)GTC>GTA p.V3V C6orf211_uc011ees.1_5'UTR|RMND1_uc003qoi.2_5'Flank NM_024573 NP_078849 Q9H993 CF211_HUMAN hypothetical protein LOC79624 3 protein binding 0 BRCA - Breast invasive adenocarcinoma(37;0.183) OV - Ovarian serous cystadenocarcinoma(155;5.27e-11) TGATGGCTGTCGTCCCGGCGT 0.632 15 67 --- --- --- --- PASS MYCT1 80177 broad.mit.edu 37 6 153042995 153042995 + Silent SNP G A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr6:153042995G>A uc003qpd.3 + 2 323 c.315G>A c.(313-315)CAG>CAA p.Q105Q MYCT1_uc010kjc.1_Intron|MYCT1_uc003qpc.3_Silent_p.Q105Q NM_025107 NP_079383 Q8N699 MYCT1_HUMAN myc target 1 105 Bipartite nuclear localization signal (Potential). nucleus ovary(1) 1 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) CCATCTCACAGTGGAGTTCAA 0.507 82 54 --- --- --- --- PASS SLC22A1 6580 broad.mit.edu 37 6 160553335 160553335 + Nonsense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr6:160553335C>A uc003qtc.2 + 3 692 c.587C>A c.(586-588)TCG>TAG p.S196* SLC22A1_uc003qtd.2_Nonsense_Mutation_p.S196* NM_003057 NP_003048 O15245 S22A1_HUMAN solute carrier family 22 member 1 isoform a 196 Helical; (Potential). basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding 0 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) ATGGCCTTCTCGCCCAACTAC 0.577 5 155 --- --- --- --- PASS AMZ1 155185 broad.mit.edu 37 7 2740387 2740387 + Missense_Mutation SNP T C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr7:2740387T>C uc003smr.1 + 2 663 c.302T>C c.(301-303)ATA>ACA p.I101T AMZ1_uc003sms.1_Missense_Mutation_p.I101T|AMZ1_uc011jwa.1_5'Flank NM_133463 NP_597720 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 101 metallopeptidase activity|zinc ion binding 0 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) CTACAGCCGATAGGTACGGGA 0.632 14 19 --- --- --- --- PASS MRPL32 64983 broad.mit.edu 37 7 42972006 42972006 + Silent SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr7:42972006C>G uc003tia.2 + 1 68 c.21C>G c.(19-21)GTC>GTG p.V7V C7orf25_uc010kxr.2_5'Flank|PSMA2_uc003thy.2_5'Flank|PSMA2_uc010kxt.2_5'Flank|PSMA2_uc003thz.1_5'Flank|MRPL32_uc003tib.2_RNA|MRPL32_uc003tic.2_5'UTR NM_031903 NP_114109 Q9BYC8 RM32_HUMAN mitochondrial ribosomal protein L32 precursor 7 translation large ribosomal subunit|mitochondrial ribosome structural constituent of ribosome 0 CCATGCTGGTCTTGGTGGTTT 0.652 15 19 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88963091 88963091 + Silent SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr7:88963091C>T uc011khi.1 + 4 1333 c.795C>T c.(793-795)TGC>TGT p.C265C NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 265 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AGTGCAAGTGCTGCAGGTTTG 0.368 HNSCC(36;0.09) 19 19 --- --- --- --- PASS TRRAP 8295 broad.mit.edu 37 7 98506544 98506544 + Missense_Mutation SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr7:98506544G>C uc003upp.2 + 14 1518 c.1309G>C c.(1309-1311)GAG>CAG p.E437Q TRRAP_uc011kis.1_Missense_Mutation_p.E437Q|TRRAP_uc003upr.2_Missense_Mutation_p.E129Q NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 437 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GAGCGAGCAGGAGAGTGGCAA 0.542 3 31 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103629586 103629586 + Missense_Mutation SNP T G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr7:103629586T>G uc003vca.2 - 1 378 c.218A>C c.(217-219)GAA>GCA p.E73A RELN_uc010liz.2_Missense_Mutation_p.E73A NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 73 Reelin. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ACCATGGTATTCTTGTCCCGG 0.642 20 23 --- --- --- --- PASS LAMB4 22798 broad.mit.edu 37 7 107706244 107706244 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr7:107706244G>T uc010ljo.1 - 21 2883 c.2799C>A c.(2797-2799)AGC>AGA p.S933R LAMB4_uc003vey.2_Missense_Mutation_p.S933R|LAMB4_uc010ljp.1_5'Flank NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 933 Laminin EGF-like 9. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 TTACATCTGAGCTCCACAGAT 0.418 20 66 --- --- --- --- PASS KCND2 3751 broad.mit.edu 37 7 119915186 119915186 + Missense_Mutation SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr7:119915186C>T uc003vjj.1 + 1 1465 c.500C>T c.(499-501)GCA>GTA p.A167V NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 167 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) ACCATGACTGCAAGGCAGAGG 0.607 13 37 --- --- --- --- PASS C7orf45 136263 broad.mit.edu 37 7 129855864 129855864 + Missense_Mutation SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr7:129855864C>T uc003vpp.2 + 3 336 c.289C>T c.(289-291)CCC>TCC p.P97S NM_145268 NP_660311 Q8WWF3 CG045_HUMAN hypothetical protein LOC136263 97 integral to membrane 0 Melanoma(18;0.0435) TGCCTGGGATCCCTCACAAAC 0.428 32 50 --- --- --- --- PASS TSGA13 114960 broad.mit.edu 37 7 130353950 130353950 + Missense_Mutation SNP C A A rs149212840 TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr7:130353950C>A uc003vqi.2 - 8 1189 c.732G>T c.(730-732)TTG>TTT p.L244F COPG2_uc003vqh.1_5'Flank|TSGA13_uc003vqj.2_Missense_Mutation_p.L244F NM_052933 NP_443165 Q96PP4 TSG13_HUMAN testis specific, 13 244 ovary(2) 2 Melanoma(18;0.0435) GCATGTCTTCCAAGAGCGATG 0.582 5 54 --- --- --- --- PASS AMAC1L2 83650 broad.mit.edu 37 8 11189484 11189484 + Missense_Mutation SNP T C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr8:11189484T>C uc003wtp.1 + 1 990 c.869T>C c.(868-870)GTG>GCG p.V290A NM_054028 NP_473369 Q96KT7 AMCL2_HUMAN acyl-malonyl condensing enzyme 290 DUF6 2.|Helical; (Potential). integral to membrane 0 STAD - Stomach adenocarcinoma(15;0.00676) COAD - Colon adenocarcinoma(149;0.0563) CATTCCGAGGTGGTTGTGGCC 0.577 7 53 --- --- --- --- PASS PSD3 23362 broad.mit.edu 37 8 18730071 18730071 + Silent SNP G A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr8:18730071G>A uc003wza.2 - 3 406 c.303C>T c.(301-303)CAC>CAT p.H101H NM_015310 NP_056125 Q9NYI0 PSD3_HUMAN ADP-ribosylation factor guanine nucleotide 101 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity ovary(3) 3 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) CGAGCCCAGAGTGGCAGCCAG 0.522 11 15 --- --- --- --- PASS XPO7 23039 broad.mit.edu 37 8 21856683 21856683 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr8:21856683C>A uc003xaa.3 + 23 2612 c.2510C>A c.(2509-2511)TCC>TAC p.S837Y XPO7_uc010lti.2_Missense_Mutation_p.S846Y|XPO7_uc010ltk.2_Missense_Mutation_p.S838Y NM_015024 NP_055839 Q9UIA9 XPO7_HUMAN exportin 7 isoform b 837 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) ATCTGCTTCTCCATGCTGAAG 0.502 8 304 --- --- --- --- PASS SLC25A37 51312 broad.mit.edu 37 8 23423786 23423786 + Missense_Mutation SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr8:23423786G>C uc003xdo.2 + 2 529 c.376G>C c.(376-378)GAA>CAA p.E126Q SLC25A37_uc003xdn.1_Missense_Mutation_p.E126Q|SLC25A37_uc003xdp.2_RNA|SLC25A37_uc010ltz.2_RNA|SLC25A37_uc003xdq.2_5'Flank NM_016612 NP_057696 Q9NYZ2 MFRN1_HUMAN solute carrier family 25, member 37 126 Solcar 1. ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane 0 Prostate(55;0.114) Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751) TGCCTGCTATGAAAACATGAA 0.488 17 64 --- --- --- --- PASS SCARA5 286133 broad.mit.edu 37 8 27737097 27737097 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr8:27737097C>G uc003xgj.2 - 8 1780 c.1340G>C c.(1339-1341)CGA>CCA p.R447P SCARA5_uc010luz.2_Missense_Mutation_p.R222P NM_173833 NP_776194 Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 447 SRCR.|Extracellular (Potential). cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity central_nervous_system(1)|skin(1) 2 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) TTGCCCGAATCGAGCTGTGCG 0.527 10 65 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55539799 55539799 + Silent SNP T C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr8:55539799T>C uc003xsd.1 + 4 3505 c.3357T>C c.(3355-3357)TCT>TCC p.S1119S RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1119 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CCTTTCATTCTGCAATATGTA 0.423 14 33 --- --- --- --- PASS CHD7 55636 broad.mit.edu 37 8 61749418 61749418 + Silent SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr8:61749418C>A uc003xue.2 + 17 4509 c.4032C>A c.(4030-4032)CTC>CTA p.L1344L NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1344 Helicase C-terminal. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GAGGCAACCTCCGCCAGGCAG 0.498 7 167 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77618478 77618478 + Nonsense_Mutation SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr8:77618478C>T uc003yav.2 + 2 2542 c.2155C>T c.(2155-2157)CAG>TAG p.Q719* ZFHX4_uc003yat.1_Nonsense_Mutation_p.Q719*|ZFHX4_uc003yau.1_Nonsense_Mutation_p.Q719*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.Q719* NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 719 C2H2-type 3. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TATTCATATGCAGTCGGACAA 0.517 HNSCC(33;0.089) 19 36 --- --- --- --- PASS MMP16 4325 broad.mit.edu 37 8 89086966 89086966 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr8:89086966C>G uc003yeb.3 - 7 1371 c.1089G>C c.(1087-1089)CAG>CAC p.Q363H MMP16_uc003yec.2_Missense_Mutation_p.Q363H NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 363 Extracellular (Potential).|Hemopexin-like 1. collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 GCCAAAACCACTGGTCCTGCA 0.493 51 90 --- --- --- --- PASS UBR5 51366 broad.mit.edu 37 8 103299702 103299702 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr8:103299702C>G uc003ykr.1 - 37 4949 c.4916G>C c.(4915-4917)CGC>CCC p.R1639P UBR5_uc003yks.1_Missense_Mutation_p.R1639P NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 1639 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 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;0.000442) AACGCTTCTGCGCCCACTAGC 0.443 25 40 --- --- --- --- PASS EIF3E 3646 broad.mit.edu 37 8 109215290 109215290 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr8:109215290C>A uc003ymu.2 - 12 1249 c.1221G>T c.(1219-1221)AAG>AAT p.K407N EIF3E_uc003ymt.2_Missense_Mutation_p.K358N|EIF3E_uc003ymv.2_Missense_Mutation_p.K314N NM_001568 NP_001559 P60228 EIF3E_HUMAN eukaryotic translation initiation factor 3, 407 Sufficient for interaction with MCM7. negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|eukaryotic translation initiation factor 3 complex|PML body protein N-terminus binding ovary(2)|kidney(1) 3 OV - Ovarian serous cystadenocarcinoma(57;6.84e-10) GGCTTTTGGTCTTTTCAATCA 0.388 34 48 --- --- --- --- PASS WDR67 93594 broad.mit.edu 37 8 124146370 124146370 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr8:124146370G>T uc003ypp.1 + 17 2513 c.2423G>T c.(2422-2424)CGA>CTA p.R808L WDR67_uc011lig.1_Intron|WDR67_uc011lih.1_Missense_Mutation_p.R698L|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.R442L|WDR67_uc003ypt.1_Missense_Mutation_p.R265L|WDR67_uc003ypu.1_Missense_Mutation_p.R265L NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 808 Potential. centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) ATGAGAGATCGAGAAATTGCT 0.328 6 134 --- --- --- --- PASS CYP11B2 1585 broad.mit.edu 37 8 143995723 143995723 + Missense_Mutation SNP A G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr8:143995723A>G uc003yxk.1 - 5 914 c.911T>C c.(910-912)ATC>ACC p.I304T NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 304 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GTTGGCCTTGATGGCTTCTAG 0.587 Familial_Hyperaldosteronism_type_I 16 26 --- --- --- --- PASS PARP10 84875 broad.mit.edu 37 8 145058587 145058587 + Nonsense_Mutation SNP G A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr8:145058587G>A uc003zal.3 - 6 1579 c.1471C>T c.(1471-1473)CAG>TAG p.Q491* PARP10_uc003zak.3_Nonsense_Mutation_p.Q197*|PARP10_uc011lku.1_Nonsense_Mutation_p.Q503*|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Nonsense_Mutation_p.Q491* NM_032789 NP_116178 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 491 Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1) 6 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CAGGAAGCCTGGGCTCCACAG 0.602 8 17 --- --- --- --- PASS GLDC 2731 broad.mit.edu 37 9 6604779 6604779 + Silent SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr9:6604779C>T uc003zkc.2 - 7 1060 c.867G>A c.(865-867)CTG>CTA p.L289L NM_000170 NP_000161 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 289 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding ovary(2) 2 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CACAGCAGGCCAGGCTCTAGA 0.502 89 53 --- --- --- --- PASS HAUS6 54801 broad.mit.edu 37 9 19058888 19058888 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr9:19058888G>T uc003znk.2 - 16 2130 c.1877C>A c.(1876-1878)CCT>CAT p.P626H HAUS6_uc011lmz.1_Missense_Mutation_p.P346H|HAUS6_uc003znl.1_Missense_Mutation_p.P490H NM_017645 NP_060115 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 626 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle ovary(2) 2 GTGCAACACAGGTAATGATTC 0.363 5 21 --- --- --- --- PASS SMU1 55234 broad.mit.edu 37 9 33053169 33053169 + Silent SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr9:33053169C>A uc003zsf.1 - 10 1350 c.1242G>T c.(1240-1242)GTG>GTT p.V414V SMU1_uc010mjo.1_Silent_p.V414V|SMU1_uc010mjp.1_Intron|SMU1_uc011lnu.1_Silent_p.V253V NM_018225 NP_060695 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog 414 WD 5. cytoplasm|nucleus ovary(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) TGTTGCACACCACAAAGTGCT 0.483 6 127 --- --- --- --- PASS TRPM3 80036 broad.mit.edu 37 9 73736162 73736162 + Silent SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr9:73736162G>T uc004aid.2 - 1 353 c.109C>A c.(109-111)CGA>AGA p.R37R TRPM3_uc004aic.2_Silent_p.R37R|TRPM3_uc010mor.2_Silent_p.R37R|TRPM3_uc004aii.2_Intron NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 37 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 TTTAGGGGTCGAGGAGCATCA 0.498 5 65 --- --- --- --- PASS VPS13A 23230 broad.mit.edu 37 9 79896842 79896842 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr9:79896842G>T uc004akr.2 + 28 3224 c.2964G>T c.(2962-2964)AAG>AAT p.K988N VPS13A_uc004akp.3_Missense_Mutation_p.K988N|VPS13A_uc004akq.3_Missense_Mutation_p.K988N|VPS13A_uc004aks.2_Missense_Mutation_p.K988N NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 988 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 AATTGATTAAGGTATGAGTAG 0.259 13 2 --- --- --- --- PASS IPPK 64768 broad.mit.edu 37 9 95400369 95400369 + Missense_Mutation SNP C T T rs148738677 TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr9:95400369C>T uc004asl.1 - 9 1107 c.830G>A c.(829-831)CGG>CAG p.R277Q IPPK_uc004ask.1_5'Flank NM_022755 NP_073592 Q9H8X2 IPPK_HUMAN inositol 1,3,4,5,6-pentakisphosphate 2-kinase 277 inositol or phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol pentakisphosphate 2-kinase activity ovary(2) 2 GGTGCCTGCCCGGCCCTTGTC 0.682 7 4 --- --- --- --- PASS ZNF462 58499 broad.mit.edu 37 9 109685872 109685872 + Missense_Mutation SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr9:109685872G>C uc004bcz.2 + 2 497 c.208G>C c.(208-210)GAA>CAA p.E70Q ZNF462_uc010mto.2_5'Flank|ZNF462_uc004bda.2_5'Flank NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 70 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 TGCCATTGCAGAAGATTTATC 0.403 7 57 --- --- --- --- PASS FNBP1 23048 broad.mit.edu 37 9 132689609 132689609 + Silent SNP C T T rs41279170 TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr9:132689609C>T uc004byw.1 - 8 873 c.654G>A c.(652-654)GAG>GAA p.E218E FNBP1_uc011mbv.1_Silent_p.E218E|FNBP1_uc011mbw.1_Silent_p.E218E|FNBP1_uc004bza.2_Silent_p.E218E|FNBP1_uc004byz.1_Silent_p.E218E|FNBP1_uc004byx.1_Silent_p.E139E|FNBP1_uc004byy.1_Silent_p.E139E NM_015033 NP_055848 Q96RU3 FNBP1_HUMAN formin binding protein 1 218 Interaction with microtubules (By similarity).|Self-association, lipid-binding and induction of membrane tubulation. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding 0 Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) TTTCCTCCATCTCTTGTATTT 0.393 T MLL AML 38 137 --- --- --- --- PASS C9orf171 389799 broad.mit.edu 37 9 135357713 135357713 + Nonsense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr9:135357713C>A uc004cbn.2 + 2 260 c.212C>A c.(211-213)TCG>TAG p.S71* C9orf171_uc004cbo.2_Intron NM_207417 NP_997300 Q6ZQR2 CI171_HUMAN hypothetical protein LOC389799 71 ovary(4)|large_intestine(1) 5 GGCCCGGCCTCGGTGGGAACC 0.522 4 35 --- --- --- --- PASS FCN1 2219 broad.mit.edu 37 9 137802992 137802992 + Silent SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr9:137802992G>T uc004cfi.2 - 8 812 c.720C>A c.(718-720)GTC>GTA p.V240V NM_002003 NP_001994 O00602 FCN1_HUMAN ficolin 1 precursor 240 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding large_intestine(1)|ovary(1) 2 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) CACTGCCCCCGACAAAGGCTC 0.468 5 150 --- --- --- --- PASS NET1 10276 broad.mit.edu 37 10 5494346 5494346 + Missense_Mutation SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr10:5494346G>C uc001iia.2 + 5 527 c.389G>C c.(388-390)AGA>ACA p.R130T NET1_uc010qar.1_5'UTR|NET1_uc001iib.2_Missense_Mutation_p.R76T|NET1_uc010qas.1_5'UTR NM_001047160 NP_001040625 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming gene 1 isoform 130 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(1) 1 GGTGACCACAGATCCCCAGCC 0.428 5 16 --- --- --- --- PASS PRKCQ 5588 broad.mit.edu 37 10 6549443 6549443 + Missense_Mutation SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr10:6549443G>C uc001ijj.1 - 4 409 c.334C>G c.(334-336)CAA>GAA p.Q112E PRKCQ_uc009xim.1_Missense_Mutation_p.Q112E|PRKCQ_uc001iji.1_Missense_Mutation_p.Q145E|PRKCQ_uc009xin.1_Missense_Mutation_p.Q76E|PRKCQ_uc010qax.1_Intron NM_006257 NP_006248 Q04759 KPCT_HUMAN protein kinase C, theta 112 C2. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity ovary(3)|lung(2)|large_intestine(1) 6 ATTCGGCCTTGAGGTTTCAGC 0.478 37 117 --- --- --- --- PASS GPR158 57512 broad.mit.edu 37 10 25888200 25888200 + Silent SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr10:25888200G>T uc001isj.2 + 11 3705 c.3645G>T c.(3643-3645)GTG>GTT p.V1215V GPR158_uc001isk.2_Silent_p.V590V NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 1215 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 GTTTTAAAGTGTAGCATCTCC 0.418 12 32 --- --- --- --- PASS SVIL 6840 broad.mit.edu 37 10 29821624 29821624 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr10:29821624G>T uc001iut.1 - 8 2425 c.1672C>A c.(1672-1674)CAG>AAG p.Q558K SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Missense_Mutation_p.Q558K NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 558 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) TTCAAGGCCTGGAGCTGAGGG 0.572 5 70 --- --- --- --- PASS ZEB1 6935 broad.mit.edu 37 10 31812972 31812972 + Missense_Mutation SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr10:31812972G>C uc001ivs.3 + 8 2776 c.2713G>C c.(2713-2715)GCT>CCT p.A905P ZEB1_uc001ivr.3_Missense_Mutation_p.A687P|ZEB1_uc010qee.1_Missense_Mutation_p.A687P|ZEB1_uc010qef.1_Missense_Mutation_p.A687P|ZEB1_uc009xlk.1_Missense_Mutation_p.A687P|ZEB1_uc001ivt.3_Missense_Mutation_p.A687P|ZEB1_uc001ivu.3_Missense_Mutation_p.A906P|ZEB1_uc001ivv.3_Missense_Mutation_p.A885P|ZEB1_uc010qeh.1_Missense_Mutation_p.A838P|ZEB1_uc009xlp.2_Missense_Mutation_p.A889P NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 905 C2H2-type 5. A -> T (in FECD6). cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) TGGAATGTATGCTTGTGATTT 0.368 10 51 --- --- --- --- PASS RPP30 10556 broad.mit.edu 37 10 92660332 92660332 + Missense_Mutation SNP A G G rs139597628 TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr10:92660332A>G uc009xtx.2 + 11 738 c.703A>G c.(703-705)AGA>GGA p.R235G RPP30_uc001khd.2_Missense_Mutation_p.R235G NM_006413 NP_006404 P78346 RPP30_HUMAN ribonuclease P/MRP 30kDa subunit isoform b 235 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity 0 TACAGAAACTAGAAAAACTGC 0.383 84 50 --- --- --- --- PASS LGI1 9211 broad.mit.edu 37 10 95557020 95557020 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr10:95557020G>T uc001kjc.3 + 8 1470 c.1134G>T c.(1132-1134)AGG>AGT p.R378S LGI1_uc010qnv.1_Missense_Mutation_p.R330S|LGI1_uc001kjd.3_Intron|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_Intron NM_005097 NP_005088 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 precursor 378 EAR 4. axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding ovary(2)|central_nervous_system(1)|skin(1) 4 Colorectal(252;0.124) CGTGGTACAGGGACACTGATG 0.418 5 36 --- --- --- --- PASS PLCE1 51196 broad.mit.edu 37 10 95931253 95931253 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr10:95931253G>T uc001kjk.2 + 4 2443 c.1809G>T c.(1807-1809)GAG>GAT p.E603D PLCE1_uc010qnx.1_Missense_Mutation_p.E603D|PLCE1_uc001kjm.2_Missense_Mutation_p.E295D NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 603 Ras-GEF. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) GGTTTAATGAGGTAAGAAGCC 0.453 17 16 --- --- --- --- PASS NRAP 4892 broad.mit.edu 37 10 115350345 115350345 + Nonsense_Mutation SNP G A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr10:115350345G>A uc001laj.2 - 40 5112 c.4948C>T c.(4948-4950)CAG>TAG p.Q1650* NRAP_uc009xyb.2_Nonsense_Mutation_p.Q403*|NRAP_uc001lak.2_Nonsense_Mutation_p.Q1615*|NRAP_uc001lal.3_Nonsense_Mutation_p.Q1650* NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 1650 Nebulin 44. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) ACATCACTCTGCAGCTGGTGG 0.622 5 18 --- --- --- --- PASS TDRD1 56165 broad.mit.edu 37 10 115970710 115970710 + Silent SNP T C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr10:115970710T>C uc001lbg.1 + 13 1797 c.1644T>C c.(1642-1644)TGT>TGC p.C548C TDRD1_uc001lbf.2_Silent_p.C539C|TDRD1_uc001lbh.1_Silent_p.C539C|TDRD1_uc001lbi.1_Silent_p.C539C|TDRD1_uc010qsc.1_Silent_p.C209C|TDRD1_uc001lbj.2_Silent_p.C257C NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 548 Tudor 2. DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) GTGATATATGTTGTGCTCAGT 0.353 9 41 --- --- --- --- PASS GLRX3 10539 broad.mit.edu 37 10 131958268 131958268 + Missense_Mutation SNP G A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr10:131958268G>A uc001lkm.1 + 3 233 c.211G>A c.(211-213)GAA>AAA p.E71K GLRX3_uc001lkn.1_Missense_Mutation_p.E71K|GLRX3_uc001lko.2_RNA NM_006541 NP_006532 O76003 GLRX3_HUMAN glutaredoxin 3 71 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) GTTGGAAGCTGAAGGTGTTCC 0.318 8 36 --- --- --- --- PASS OR52E6 390078 broad.mit.edu 37 11 5862792 5862792 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr11:5862792C>A uc010qzq.1 - 1 336 c.336G>T c.(334-336)ATG>ATT p.M112I TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, 112 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGATGCTCTCCATGACAGTGA 0.448 6 135 --- --- --- --- PASS SPTY2D1 144108 broad.mit.edu 37 11 18637425 18637425 + Silent SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr11:18637425G>T uc001moy.2 - 3 612 c.396C>A c.(394-396)CTC>CTA p.L132L SPTY2D1_uc010rdi.1_Silent_p.L132L NM_194285 NP_919261 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 132 Potential. breast(1) 1 GATTGTACTCGAGGAATTCAT 0.473 6 91 --- --- --- --- PASS EHF 26298 broad.mit.edu 37 11 34680224 34680224 + Missense_Mutation SNP A G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr11:34680224A>G uc001mvr.1 + 8 863 c.752A>G c.(751-753)AAA>AGA p.K251R EHF_uc009yke.1_Missense_Mutation_p.K228R|EHF_uc009ykf.1_Missense_Mutation_p.K254R NM_012153 NP_036285 Q9NZC4 EHF_HUMAN ets homologous factor 251 ETS. cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_hematologic(20;0.117) Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235) CTATGGGGTAAAAAGAAGAAC 0.453 33 49 --- --- --- --- PASS PRR5L 79899 broad.mit.edu 37 11 36472839 36472839 + Silent SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr11:36472839C>A uc001mwo.3 + 8 1055 c.666C>A c.(664-666)CTC>CTA p.L222L PRR5L_uc001mwp.2_Silent_p.L222L|PRR5L_uc009ykk.2_Silent_p.L94L|PRR5L_uc010rfc.1_Intron NM_001160167 NP_001153639 Q6MZQ0 PRR5L_HUMAN protor-2 isoform a 222 ovary(1) 1 CTCCTTTCCTCGGCATCAGCG 0.542 5 84 --- --- --- --- PASS MADD 8567 broad.mit.edu 37 11 47311834 47311834 + Silent SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr11:47311834C>A uc001ner.1 + 19 3329 c.3138C>A c.(3136-3138)ACC>ACA p.T1046T MADD_uc001neq.2_Silent_p.T1026T|MADD_uc001nev.1_Silent_p.T983T|MADD_uc001nes.1_Silent_p.T1003T|MADD_uc001net.1_Silent_p.T1046T|MADD_uc009yln.1_Silent_p.T983T|MADD_uc001neu.1_Silent_p.T983T|MADD_uc001nex.2_Silent_p.T1046T|MADD_uc001nez.2_Silent_p.T983T|MADD_uc001new.2_Silent_p.T1026T|MADD_uc009ylo.2_5'Flank NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 1046 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) TTGCCCAGACCCACTACTATA 0.532 5 29 --- --- --- --- PASS AGBL2 79841 broad.mit.edu 37 11 47726218 47726218 + Missense_Mutation SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr11:47726218C>T uc001ngg.2 - 6 563 c.463G>A c.(463-465)GAA>AAA p.E155K AGBL2_uc010rhq.1_Missense_Mutation_p.E117K|AGBL2_uc001ngh.1_Missense_Mutation_p.E99K NM_024783 NP_079059 Q5U5Z8 CBPC2_HUMAN carboxypeptidase 2, cytosolic 155 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 GGGTTTACTTCATCCAACTCA 0.443 17 70 --- --- --- --- PASS OR4C46 119749 broad.mit.edu 37 11 51515752 51515752 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr11:51515752G>T uc010ric.1 + 1 471 c.471G>T c.(469-471)CAG>CAT p.Q157H NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 157 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CAACCATACAGATCCTCTTCA 0.473 18 58 --- --- --- --- PASS OR5M11 219487 broad.mit.edu 37 11 56310527 56310527 + Silent SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr11:56310527C>A uc010rjl.1 - 1 207 c.207G>T c.(205-207)GTG>GTT p.V69V NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, 69 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGCACAAATCCACAAAGGCTA 0.453 48 93 --- --- --- --- PASS SCGB2A1 4246 broad.mit.edu 37 11 61976227 61976227 + Missense_Mutation SNP G A A rs143379489 byFrequency TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr11:61976227G>A uc001nta.2 + 1 88 c.24G>A c.(22-24)ATG>ATA p.M8I NM_002407 NP_002398 O75556 SG2A1_HUMAN secretoglobin, family 2A, member 1 precursor 8 extracellular region androgen binding 0 TGGTCCTCATGCTGGCGGCCC 0.602 34 55 --- --- --- --- PASS PYGM 5837 broad.mit.edu 37 11 64518818 64518818 + Missense_Mutation SNP G C C rs114073621 by1000genomes TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr11:64518818G>C uc001oax.3 - 16 2765 c.1948C>G c.(1948-1950)CGA>GGA p.R650G PYGM_uc001oay.3_Missense_Mutation_p.R562G NM_005609 NP_005600 P11217 PYGM_HUMAN muscle glycogen phosphorylase isoform 1 650 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding ovary(2) 2 Pyridoxal Phosphate(DB00114) AGTGAGACTCGGTAGTTCTCC 0.577 14 23 --- --- --- --- PASS MEN1 4221 broad.mit.edu 37 11 64572546 64572546 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr11:64572546G>T uc001obj.2 - 9 1398 c.1325C>A c.(1324-1326)GCC>GAC p.A442D MAP4K2_uc001obh.2_5'Flank|MAP4K2_uc001obi.2_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.2_Missense_Mutation_p.A442D|MEN1_uc001obl.2_Missense_Mutation_p.A402D|MEN1_uc001obm.2_Missense_Mutation_p.A437D|MEN1_uc001obn.2_Missense_Mutation_p.A442D|MEN1_uc001obo.2_Missense_Mutation_p.A442D|MEN1_uc001obp.2_Missense_Mutation_p.A437D|MEN1_uc001obq.2_Missense_Mutation_p.A442D|MEN1_uc001obr.2_Missense_Mutation_p.A442D NM_130800 NP_570712 O00255 MEN1_HUMAN menin isoform 1 442 DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding p.Q442*(1) parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1) 238 AAGAAAGGTGGCCCAGCCCAC 0.622 D|Mis|N|F|S parathyroid tumors|Pancreatic neuroendocrine tumors parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1 4 36 --- --- --- --- PASS SYT12 91683 broad.mit.edu 37 11 66816119 66816119 + Missense_Mutation SNP A G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr11:66816119A>G uc009yrl.2 + 8 1387 c.1157A>G c.(1156-1158)CAT>CGT p.H386R SYT12_uc001oju.2_Missense_Mutation_p.H386R NM_177963 NP_808878 Q8IV01 SYT12_HUMAN synaptotagmin XII 386 C2 2.|Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane ovary(1) 1 AACGTGGGCCATGTCATCATT 0.642 13 22 --- --- --- --- PASS ANKRD13D 338692 broad.mit.edu 37 11 67067552 67067552 + Missense_Mutation SNP G T T rs78983123 by1000genomes TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr11:67067552G>T uc001okc.1 + 11 1281 c.770G>T c.(769-771)CGG>CTG p.R257L ANKRD13D_uc001okd.1_Missense_Mutation_p.R344L|ANKRD13D_uc001oke.1_Missense_Mutation_p.R257L|ANKRD13D_uc001okg.1_Missense_Mutation_p.R40L|ANKRD13D_uc001okh.1_Missense_Mutation_p.R40L|ANKRD13D_uc001oki.1_5'Flank NM_207354 NP_997237 Q6ZTN6 AN13D_HUMAN ankyrin repeat domain 13 family, member D 257 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CTGGAGTCACGGAACATTGGC 0.637 24 56 --- --- --- --- PASS NDUFV1 4723 broad.mit.edu 37 11 67379866 67379866 + Silent SNP G A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr11:67379866G>A uc001omj.2 + 10 1485 c.1332G>A c.(1330-1332)CCG>CCA p.P444P NDUFV1_uc010rpv.1_Silent_p.P343P|NDUFV1_uc001oml.2_Silent_p.P437P|NDUFV1_uc001omk.3_Silent_p.P435P|NDUFV1_uc010rpw.1_Silent_p.P153P NM_007103 NP_009034 P49821 NDUV1_HUMAN NADH dehydrogenase ubiquinone flavoprotein 1 444 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity skin(1) 1 NADH(DB00157) ACTTTCGGCCGGAGCTCGAGG 0.647 4 5 --- --- --- --- PASS ANO1 55107 broad.mit.edu 37 11 69957845 69957845 + Missense_Mutation SNP G A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr11:69957845G>A uc001opj.2 + 7 1137 c.832G>A c.(832-834)GCG>ACG p.A278T ANO1_uc001opk.1_Missense_Mutation_p.A250T|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.A13T NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 278 Cytoplasmic (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 TGGTGTGTACGCGGCTGCATA 0.562 43 774 --- --- --- --- PASS PPFIA1 8500 broad.mit.edu 37 11 70224135 70224135 + Splice_Site SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr11:70224135G>T uc001opo.2 + 26 3583 c.3385_splice c.e26-1 p.D1129_splice PPFIA1_uc001opn.1_Splice_Site_p.D1129_splice|PPFIA1_uc001opp.2_Splice_Site|PPFIA1_uc001opr.2_Splice_Site_p.D268_splice|PPFIA1_uc001ops.2_Splice_Site_p.D168_splice|uc001opt.1_Intron NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TAATTTACCAGGATGATGATA 0.378 9 448 --- --- --- --- PASS PICALM 8301 broad.mit.edu 37 11 85701343 85701343 + Nonsense_Mutation SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr11:85701343G>C uc001pbm.2 - 13 1644 c.1358C>G c.(1357-1359)TCA>TGA p.S453* PICALM_uc001pbl.2_Intron|PICALM_uc001pbn.2_Nonsense_Mutation_p.S446*|PICALM_uc010rtl.1_Intron|PICALM_uc010rtk.1_Intron|PICALM_uc001pbo.1_Nonsense_Mutation_p.S85* NM_007166 NP_009097 Q13492 PICAL_HUMAN phosphatidylinositol-binding clathrin assembly 453 clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding urinary_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) AGATACATCTGAAGAAATGGA 0.363 T MLLT10|MLL TALL|AML| 14 66 --- --- --- --- PASS EED 8726 broad.mit.edu 37 11 85977186 85977186 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr11:85977186G>T uc001pbp.2 + 8 1245 c.788G>T c.(787-789)TGG>TTG p.W263L EED_uc010rtm.1_Missense_Mutation_p.W263L|EED_uc001pbq.2_Missense_Mutation_p.W263L|EED_uc001pbr.2_Missense_Mutation_p.W263L|EED_uc001pbs.2_Intron|EED_uc010rtn.1_RNA NM_003797 NP_003788 O75530 EED_HUMAN embryonic ectoderm development isoform a 263 Interaction with EZH2 (By similarity).|WD 4.|Required for interaction with the matrix protein MA of HIV-1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|identical protein binding skin(1)|pancreas(1) 2 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) CTTAAACTTTGGAGGATCAAT 0.289 5 79 --- --- --- --- PASS TRIM49 57093 broad.mit.edu 37 11 89531505 89531505 + Silent SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr11:89531505C>T uc001pdb.2 - 8 1481 c.1152G>A c.(1150-1152)AAG>AAA p.K384K NM_020358 NP_065091 P0CI25 TRI49_HUMAN ring finger protein 18 384 B30.2/SPRY. intracellular zinc ion binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) GAATGTCATTCTTAACACACC 0.428 8 78 --- --- --- --- PASS GRIA4 2893 broad.mit.edu 37 11 105732836 105732836 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr11:105732836G>T uc001pix.2 + 5 1020 c.574G>T c.(574-576)GTC>TTC p.V192F GRIA4_uc001piu.1_Missense_Mutation_p.V192F|GRIA4_uc001piw.2_Missense_Mutation_p.V192F|GRIA4_uc001piv.2_Missense_Mutation_p.V192F|GRIA4_uc009yxk.1_Missense_Mutation_p.V192F NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 192 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) TTTTAATGATGTCAGCTATAG 0.368 13 28 --- --- --- --- PASS EXPH5 23086 broad.mit.edu 37 11 108383320 108383320 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr11:108383320C>G uc001pkk.2 - 6 3025 c.2914G>C c.(2914-2916)GGA>CGA p.G972R EXPH5_uc010rvy.1_Missense_Mutation_p.G784R|EXPH5_uc010rvz.1_Missense_Mutation_p.G816R|EXPH5_uc010rwa.1_Missense_Mutation_p.G896R NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 972 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TTTCCTTTTCCTCTTTCATTC 0.393 19 70 --- --- --- --- PASS POU2AF1 5450 broad.mit.edu 37 11 111228206 111228206 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr11:111228206C>G uc001plg.3 - 4 675 c.420G>C c.(418-420)TTG>TTC p.L140F NM_006235 NP_006226 Q16633 OBF1_HUMAN POU class 2 associating factor 1 140 humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity kidney(1) 1 all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364) AGGCATAGGTCAACACTGAGG 0.572 T BCL6 NHL 7 33 --- --- --- --- PASS MLL 4297 broad.mit.edu 37 11 118344238 118344238 + Silent SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr11:118344238C>A uc001pta.2 + 3 2387 c.2364C>A c.(2362-2364)GCC>GCA p.A788A MLL_uc001ptb.2_Silent_p.A788A|MLL_uc001psz.1_Silent_p.A821A|MLL_uc001ptd.1_Intron NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 788 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GTCCTCTTGCCACTAGTGCCT 0.473 T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 5 97 --- --- --- --- PASS OR10G8 219869 broad.mit.edu 37 11 123900835 123900835 + Missense_Mutation SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr11:123900835G>C uc001pzp.1 + 1 506 c.506G>C c.(505-507)GGA>GCA p.G169A NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 169 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 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;0.0521) CCCTACTGTGGACCCAACTGG 0.532 46 93 --- --- --- --- PASS ACAD8 27034 broad.mit.edu 37 11 134130962 134130962 + Nonsense_Mutation SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr11:134130962C>T uc001qhk.2 + 7 791 c.730C>T c.(730-732)CGA>TGA p.R244* ACAD8_uc010sco.1_3'UTR|ACAD8_uc010scp.1_RNA|ACAD8_uc010scq.1_Nonsense_Mutation_p.R167*|ACAD8_uc001qhl.2_Nonsense_Mutation_p.R117*|ACAD8_uc010scr.1_3'UTR|ACAD8_uc009zde.1_3'UTR NM_014384 NP_055199 Q9UKU7 ACAD8_HUMAN acyl-Coenzyme A dehydrogenase family, member 8 244 branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding 0 all_hematologic(175;0.127) all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559) Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21) CCAGCCAACACGAGCTGTGAT 0.612 4 10 --- --- --- --- PASS ABCC9 10060 broad.mit.edu 37 12 22046974 22046974 + Silent SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr12:22046974G>C uc001rfi.1 - 12 1814 c.1794C>G c.(1792-1794)GCC>GCG p.A598A ABCC9_uc001rfh.2_Silent_p.A598A|ABCC9_uc001rfj.1_Silent_p.A598A NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 598 Cytoplasmic (Potential). defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ACCTTATGATGGCTTTGACTG 0.323 17 47 --- --- --- --- PASS KIAA0528 9847 broad.mit.edu 37 12 22678604 22678604 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr12:22678604C>G uc001rfq.2 - 5 613 c.385G>C c.(385-387)GAC>CAC p.D129H KIAA0528_uc010sir.1_5'UTR|KIAA0528_uc010sis.1_Missense_Mutation_p.D129H|KIAA0528_uc010sit.1_Missense_Mutation_p.D129H|KIAA0528_uc010siu.1_Missense_Mutation_p.D129H|KIAA0528_uc001rfr.2_Missense_Mutation_p.D129H|KIAA0528_uc009ziy.1_Missense_Mutation_p.D129H NM_014802 NP_055617 Q86YS7 K0528_HUMAN hypothetical protein LOC9847 129 protein binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 TTGAAGAGGTCTACTTTGACA 0.294 19 134 --- --- --- --- PASS ITPR2 3709 broad.mit.edu 37 12 26709212 26709212 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr12:26709212G>T uc001rhg.2 - 36 5335 c.4918C>A c.(4918-4920)CCT>ACT p.P1640T NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 1640 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) CTTCCCTCAGGGAACAGCAGT 0.483 6 110 --- --- --- --- PASS YAF2 10138 broad.mit.edu 37 12 42554480 42554480 + Missense_Mutation SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr12:42554480C>T uc001rmv.2 - 4 522 c.454G>A c.(454-456)GGC>AGC p.G152S YAF2_uc001rmw.2_Missense_Mutation_p.G176S|YAF2_uc010sko.1_Missense_Mutation_p.G143S|YAF2_uc010skp.1_Missense_Mutation_p.G110S NM_005748 NP_005739 Q8IY57 YAF2_HUMAN YY1 associated factor 2 152 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding 0 all_cancers(12;0.000425) Lung NSC(34;0.0402)|all_lung(34;0.057) GBM - Glioblastoma multiforme(48;0.0514) GAGCTAGAGCCGCTTTGACTG 0.428 14 24 --- --- --- --- PASS LMBR1L 55716 broad.mit.edu 37 12 49495909 49495909 + Silent SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr12:49495909C>A uc001rth.3 - 11 1266 c.924G>T c.(922-924)GTG>GTT p.V308V LMBR1L_uc001rtg.3_Silent_p.V303V|LMBR1L_uc001rti.3_Silent_p.V308V|LMBR1L_uc001rtj.1_Silent_p.V152V|LMBR1L_uc009zld.1_Silent_p.V181V NM_018113 NP_060583 Q6UX01 LMBRL_HUMAN lipocalin-interacting membrane receptor 308 Helical; (Potential). endocytosis integral to membrane|plasma membrane receptor activity pancreas(1) 1 CTACCGTCAGCACCAGCAAGC 0.597 18 42 --- --- --- --- PASS TENC1 23371 broad.mit.edu 37 12 53455039 53455039 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr12:53455039C>G uc001sbp.2 + 20 3484 c.3349C>G c.(3349-3351)CAA>GAA p.Q1117E TENC1_uc001sbl.2_Missense_Mutation_p.Q993E|TENC1_uc001sbn.2_Missense_Mutation_p.Q1127E|TENC1_uc001sbq.2_Missense_Mutation_p.Q515E|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Missense_Mutation_p.Q612E|TENC1_uc001sbs.2_5'Flank NM_170754 NP_736610 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase 1117 Pro-rich. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding ovary(1)|pancreas(1) 2 TAATGTCCCCCAAACCCCAGG 0.597 15 57 --- --- --- --- PASS MAP3K12 7786 broad.mit.edu 37 12 53881050 53881050 + Silent SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr12:53881050C>T uc001sdm.1 - 2 224 c.126G>A c.(124-126)CTG>CTA p.L42L MAP3K12_uc001sdn.1_Silent_p.L42L NM_006301 NP_006292 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 42 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding lung(2)|ovary(1)|breast(1)|skin(1) 5 GGGTAGGCGTCAGGTCCTTCT 0.627 9 72 --- --- --- --- PASS DPY19L2 283417 broad.mit.edu 37 12 63974449 63974449 + Silent SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr12:63974449G>T uc001srp.1 - 19 2074 c.1893C>A c.(1891-1893)ACC>ACA p.T631T DPY19L2_uc010sso.1_Silent_p.T78T NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 631 multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) CACCTGATGTGGTACTGTATT 0.313 5 78 --- --- --- --- PASS DYRK2 8445 broad.mit.edu 37 12 68051497 68051497 + Silent SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr12:68051497G>T uc001str.3 + 3 1212 c.810G>T c.(808-810)CTG>CTT p.L270L DYRK2_uc001sts.3_Silent_p.L197L NM_006482 NP_006473 Q92630 DYRK2_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 270 Protein kinase. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(2)|breast(1)|central_nervous_system(1) 4 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(7;0.000573) TCCGAATCCTGGAACACCTGC 0.527 6 87 --- --- --- --- PASS RAB3IP 117177 broad.mit.edu 37 12 70150363 70150363 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr12:70150363C>A uc001svp.2 + 3 925 c.478C>A c.(478-480)CGT>AGT p.R160S RAB3IP_uc001svl.1_Missense_Mutation_p.R144S|RAB3IP_uc001svm.2_Missense_Mutation_p.R144S|RAB3IP_uc001svn.2_Missense_Mutation_p.R144S|RAB3IP_uc001svo.2_RNA|RAB3IP_uc001svq.2_Missense_Mutation_p.R160S|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_RNA NM_175623 NP_783322 Q96QF0 RAB3I_HUMAN RAB3A interacting protein isoform alpha 2 160 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) TAGTCTGTCTCGTTTACGAAG 0.393 4 113 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78511809 78511809 + Silent SNP G A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr12:78511809G>A uc001syp.2 + 14 2945 c.2772G>A c.(2770-2772)CTG>CTA p.L924L NAV3_uc001syo.2_Silent_p.L924L|NAV3_uc010sub.1_Silent_p.L424L|NAV3_uc009zsf.2_5'UTR NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 924 L -> V (in Ref. 3; AAM73757). nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CTTTATAGCTGAGGACAGATT 0.368 HNSCC(70;0.22) 26 154 --- --- --- --- PASS CEP290 80184 broad.mit.edu 37 12 88484529 88484529 + Silent SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr12:88484529G>C uc001tar.2 - 30 3893 c.3549C>G c.(3547-3549)CTC>CTG p.L1183L CEP290_uc001taq.2_Silent_p.L243L NM_025114 NP_079390 O15078 CE290_HUMAN centrosomal protein 290kDa 1183 Potential. cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding ovary(5)|breast(1)|pancreas(1) 7 GTTGCATTCTGAGGGACTCTA 0.383 3 6 --- --- --- --- PASS GIT2 9815 broad.mit.edu 37 12 110376235 110376235 + Silent SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr12:110376235G>T uc001tps.2 - 18 2118 c.1953C>A c.(1951-1953)ACC>ACA p.T651T TCHP_uc001tpo.1_Intron|GIT2_uc001tpr.2_Silent_p.T191T|GIT2_uc001tpq.2_Silent_p.T621T|GIT2_uc001tpv.2_Silent_p.T573T|GIT2_uc001tpu.2_Silent_p.T571T|GIT2_uc001tpt.2_Silent_p.T523T|GIT2_uc010sxu.1_Silent_p.T559T NM_057169 NP_476510 Q14161 GIT2_HUMAN G protein-coupled receptor kinase interacting 651 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway nucleoplasm ARF GTPase activator activity|protein binding|zinc ion binding central_nervous_system(1) 1 GTATGTTTTTGGTGATCTGTT 0.512 6 104 --- --- --- --- PASS TPCN1 53373 broad.mit.edu 37 12 113704132 113704132 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr12:113704132G>T uc001tuw.2 + 4 682 c.385G>T c.(385-387)GCC>TCC p.A129S TPCN1_uc001tux.2_Missense_Mutation_p.A201S|TPCN1_uc010syt.1_Missense_Mutation_p.A61S NM_017901 NP_060371 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 isoform 2 129 Helical; Name=S1 of repeat I; (Potential). endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity skin(2)|ovary(1) 3 CGAGGCCCCCGCCGTCCCCGC 0.642 67 84 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124267811 124267811 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr12:124267811G>T uc001uft.3 + 7 841 c.816G>T c.(814-816)CAG>CAT p.Q272H NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 272 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AGACACCTCAGGTAGTTTGTG 0.532 5 52 --- --- --- --- PASS NCOR2 9612 broad.mit.edu 37 12 124840062 124840062 + Silent SNP T A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr12:124840062T>A uc010tba.1 - 24 3438 c.3321A>T c.(3319-3321)CCA>CCT p.P1107P NCOR2_uc010tay.1_Silent_p.P1106P|NCOR2_uc010taz.1_Silent_p.P1090P|NCOR2_uc010tbb.1_Silent_p.P1099P|NCOR2_uc010tbc.1_Silent_p.P1089P|NCOR2_uc001ugj.1_Silent_p.P1107P NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 1107 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) AGATGGTGGGTGGGCGCGGCA 0.647 9 14 --- --- --- --- PASS FREM2 341640 broad.mit.edu 37 13 39265581 39265581 + Missense_Mutation SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr13:39265581G>C uc001uwv.2 + 1 4409 c.4100G>C c.(4099-4101)GGC>GCC p.G1367A NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1367 Extracellular (Potential).|CSPG 9. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) ATCACACTGGGCATGAATTTT 0.393 26 14 --- --- --- --- PASS MYCBP2 23077 broad.mit.edu 37 13 77669539 77669539 + Missense_Mutation SNP C A A rs141165449 TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr13:77669539C>A uc001vkf.2 - 59 10130 c.10039G>T c.(10039-10041)GAT>TAT p.D3347Y MYCBP2_uc010aev.2_Missense_Mutation_p.D2751Y|MYCBP2_uc001vke.2_5'Flank NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 3347 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) ACAGGAAGATCCTCAGAAATG 0.428 22 5 --- --- --- --- PASS PCID2 55795 broad.mit.edu 37 13 113832545 113832545 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr13:113832545C>G uc010tju.1 - 14 1248 c.1167G>C c.(1165-1167)CAG>CAC p.Q389H PCID2_uc001vtb.2_Missense_Mutation_p.Q222H|PCID2_uc010tjv.1_Missense_Mutation_p.Q389H|PCID2_uc010tjw.1_Missense_Mutation_p.Q389H|PCID2_uc001vte.2_Missense_Mutation_p.Q282H|PCID2_uc001vtd.2_Missense_Mutation_p.Q282H|PCID2_uc001vtf.2_Missense_Mutation_p.Q282H NM_001127203 NP_001120675 Q5JVF3 PCID2_HUMAN PCI domain containing 2 389 negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development protein binding 0 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.216)|all_epithelial(44;0.234) all cancers(43;0.104) GAAATGGGTTCTGCTTGCTGA 0.527 17 25 --- --- --- --- PASS PCNX 22990 broad.mit.edu 37 14 71524297 71524297 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr14:71524297G>T uc001xmo.2 + 26 5154 c.4708G>T c.(4708-4710)GGT>TGT p.G1570C PCNX_uc010are.1_Missense_Mutation_p.G1459C|PCNX_uc010arf.1_Intron NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1570 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CAGCCTCTGTGGTGATTTGCT 0.388 6 182 --- --- --- --- PASS MLH3 27030 broad.mit.edu 37 14 75485636 75485636 + Missense_Mutation SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr14:75485636G>C uc001xrd.1 - 12 4354 c.4138C>G c.(4138-4140)CTT>GTT p.L1380V MLH3_uc001xre.1_Missense_Mutation_p.L1356V NM_001040108 NP_001035197 Q9UHC1 MLH3_HUMAN mutL homolog 3 isoform 1 1380 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00688) GCTTCAATAAGGCGGCAACTT 0.453 MMR 11 34 --- --- --- --- PASS MOAP1 64112 broad.mit.edu 37 14 93650307 93650307 + Missense_Mutation SNP T C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr14:93650307T>C uc001ybj.2 - 3 651 c.281A>G c.(280-282)AAG>AGG p.K94R C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank NM_022151 NP_071434 Q96BY2 MOAP1_HUMAN modulator of apoptosis 1 94 activation of caspase activity|apoptotic nuclear change cytoplasm protein homodimerization activity skin(2)|ovary(1) 3 all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13) Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204) gtcagggggcttaaagatcac 0.000 20 40 --- --- --- --- PASS BDKRB2 624 broad.mit.edu 37 14 96707262 96707262 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr14:96707262G>T uc010avm.1 + 3 793 c.597G>T c.(595-597)AAG>AAT p.K199N BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.K172N|BDKRB2_uc001yfg.2_Missense_Mutation_p.K199N NM_000623 NP_000614 P30411 BKRB2_HUMAN bradykinin receptor B2 199 Extracellular (Potential). arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding ovary(3)|breast(1)|kidney(1) 5 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) GGACCATGAAGGAGTACAGCG 0.597 5 35 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105405270 105405270 + Silent SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr14:105405270G>T uc010axc.1 - 7 16638 c.16518C>A c.(16516-16518)ATC>ATA p.I5506I AHNAK2_uc001ypx.2_Silent_p.I5406I NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5506 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTGACGTGGGGATCTCTGATT 0.453 4 19 --- --- --- --- PASS ATP8B4 79895 broad.mit.edu 37 15 50226290 50226290 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr15:50226290C>G uc001zxu.2 - 15 1519 c.1377G>C c.(1375-1377)ATG>ATC p.M459I ATP8B4_uc010ber.2_Missense_Mutation_p.M332I|ATP8B4_uc010ufd.1_Missense_Mutation_p.M332I|ATP8B4_uc010ufe.1_RNA NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 459 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TGGGATCACCCATTTTAATGG 0.408 34 54 --- --- --- --- PASS USP8 9101 broad.mit.edu 37 15 50757333 50757333 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr15:50757333C>G uc001zym.3 + 8 1131 c.631C>G c.(631-633)CAG>GAG p.Q211E USP8_uc001zyk.1_Translation_Start_Site|USP8_uc001zyl.3_Missense_Mutation_p.Q211E|USP8_uc001zyn.3_Missense_Mutation_p.Q211E|USP8_uc010ufh.1_Missense_Mutation_p.Q134E|USP8_uc010bev.1_Intron NM_001128611 NP_001122083 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 211 Rhodanese. cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1)|central_nervous_system(1) 2 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) GCAGGATTATCAGGATTCCTG 0.383 14 57 --- --- --- --- PASS KIAA1370 56204 broad.mit.edu 37 15 52902292 52902292 + Nonsense_Mutation SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr15:52902292C>T uc002acg.3 - 6 972 c.819G>A c.(817-819)TGG>TGA p.W273* KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Nonsense_Mutation_p.W185*|KIAA1370_uc010ugf.1_Nonsense_Mutation_p.W280* NM_019600 NP_062546 Q32MH5 K1370_HUMAN hypothetical protein LOC56204 273 0 all cancers(107;0.0803) GTGCCATGGTCCAAGTTTGTT 0.408 19 35 --- --- --- --- PASS CGNL1 84952 broad.mit.edu 37 15 57730732 57730732 + Missense_Mutation SNP A G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr15:57730732A>G uc002aeg.2 + 2 611 c.535A>G c.(535-537)ACA>GCA p.T179A CGNL1_uc010bfw.2_Missense_Mutation_p.T179A NM_032866 NP_116255 Q0VF96 CGNL1_HUMAN cingulin-like 1 179 Head. myosin complex|tight junction motor activity skin(6)|ovary(4)|central_nervous_system(1) 11 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) AAAAACGTTGACAGAAGAAGG 0.458 57 101 --- --- --- --- PASS SNX1 6642 broad.mit.edu 37 15 64422135 64422135 + Silent SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr15:64422135C>A uc002amv.2 + 9 864 c.828C>A c.(826-828)ACC>ACA p.T276T SNX1_uc010bgv.2_5'UTR|SNX1_uc010uio.1_Silent_p.T276T|SNX1_uc002amw.2_Silent_p.T276T|SNX1_uc002amx.2_Silent_p.T211T|SNX1_uc002amy.2_Silent_p.T205T|SNX1_uc010bgw.2_Silent_p.T178T NM_003099 NP_003090 Q13596 SNX1_HUMAN sorting nexin 1 isoform a 276 cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport early endosome membrane|Golgi apparatus phosphatidylinositol binding|protein binding|protein transporter activity 0 CCGTGGGTACCCAGACATTGA 0.468 6 91 --- --- --- --- PASS DENND4A 10260 broad.mit.edu 37 15 66010252 66010252 + Missense_Mutation SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr15:66010252C>T uc002aph.2 - 13 2049 c.1671G>A c.(1669-1671)ATG>ATA p.M557I DENND4A_uc002api.2_Missense_Mutation_p.M557I|DENND4A_uc002apj.3_Missense_Mutation_p.M557I|DENND4A_uc010ujj.1_Missense_Mutation_p.M557I NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 557 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 CCAAATCTATCATGTGCAACC 0.383 4 13 --- --- --- --- PASS SPATA8 145946 broad.mit.edu 37 15 97328309 97328309 + Missense_Mutation SNP A G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr15:97328309A>G uc002bue.2 + 3 490 c.280A>G c.(280-282)AGG>GGG p.R94G uc010urp.1_5'Flank|uc002bud.1_5'Flank NM_173499 NP_775770 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 94 ovary(1)|skin(1) 2 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) GAAGATAAACAGGAGAAGTGT 0.453 36 47 --- --- --- --- PASS OR4F15 390649 broad.mit.edu 37 15 102358897 102358897 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr15:102358897G>T uc010uts.1 + 1 508 c.508G>T c.(508-510)GGT>TGT p.G170C NM_001001674 NP_001001674 Q8NGB8 O4F15_HUMAN olfactory receptor, family 4, subfamily F, 170 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) ACCTTTTTGTGGTCCTAATAT 0.423 7 135 --- --- --- --- PASS WDR90 197335 broad.mit.edu 37 16 711941 711941 + Silent SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr16:711941G>C uc002cii.1 + 32 3969 c.3915G>C c.(3913-3915)TCG>TCC p.S1305S WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Silent_p.S832S|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Silent_p.S479S|WDR90_uc002cin.1_5'UTR NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 1305 WD 15. ovary(1) 1 Hepatocellular(780;0.0218) AGCTGACCTCGCTCTGCTACG 0.662 32 14 --- --- --- --- PASS ABAT 18 broad.mit.edu 37 16 8868838 8868838 + Missense_Mutation SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr16:8868838C>T uc002czc.3 + 13 1212 c.1046C>T c.(1045-1047)CCA>CTA p.P349L ABAT_uc002czd.3_Missense_Mutation_p.P349L|ABAT_uc010buh.2_Missense_Mutation_p.P291L|ABAT_uc010bui.2_Missense_Mutation_p.P349L NM_020686 NP_065737 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase precursor 349 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding upper_aerodigestive_tract(1) 1 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) CTGGATGACCCAGCAGACGTG 0.597 14 26 --- --- --- --- PASS GRIN2A 2903 broad.mit.edu 37 16 10031952 10031952 + Missense_Mutation SNP T C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr16:10031952T>C uc002czo.3 - 3 1419 c.871A>G c.(871-873)AGA>GGA p.R291G GRIN2A_uc010uym.1_Missense_Mutation_p.R291G|GRIN2A_uc010uyn.1_Missense_Mutation_p.R134G|GRIN2A_uc002czr.3_Missense_Mutation_p.R291G NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 291 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCCCTCACTCTCGCCTCCAGG 0.567 16 8 --- --- --- --- PASS ABCC6 368 broad.mit.edu 37 16 16302587 16302587 + Silent SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr16:16302587C>G uc002den.3 - 7 829 c.792G>C c.(790-792)CGG>CGC p.R264R ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Silent_p.R276R NM_001171 NP_001162 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C, member 6 264 Cytoplasmic (By similarity). response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CCACTTACCTCCGGGCTGCAC 0.398 18 46 --- --- --- --- PASS SMG1 23049 broad.mit.edu 37 16 18847327 18847327 + Missense_Mutation SNP T C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr16:18847327T>C uc002dfm.2 - 48 8348 c.7985A>G c.(7984-7986)GAA>GGA p.E2662G SMG1_uc010bwb.2_Missense_Mutation_p.E2522G|SMG1_uc010bwa.2_Missense_Mutation_p.E1393G NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 2662 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 CTTCCACTGTTCAATTCGATG 0.473 8 4 --- --- --- --- PASS GPRC5B 51704 broad.mit.edu 37 16 19883784 19883784 + Silent SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr16:19883784G>T uc002dgt.2 - 2 492 c.384C>A c.(382-384)CTC>CTA p.L128L GPRC5B_uc010vav.1_Silent_p.L154L NM_016235 NP_057319 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, 128 Helical; Name=3; (Potential). p.L128F(1) lung(1)|breast(1)|skin(1) 3 GGACGCCCCAGAGGAAGCGGC 0.662 4 9 --- --- --- --- PASS CCDC113 29070 broad.mit.edu 37 16 58293772 58293772 + Missense_Mutation SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr16:58293772G>C uc002ene.2 + 5 640 c.561G>C c.(559-561)GAG>GAC p.E187D CCDC113_uc010vid.1_Missense_Mutation_p.E133D NM_014157 NP_054876 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 isoform 1 187 Potential. protein complex 0 ATATGAAGGAGAAATTACGTT 0.348 10 23 --- --- --- --- PASS CDH8 1006 broad.mit.edu 37 16 61891136 61891136 + Missense_Mutation SNP G A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr16:61891136G>A uc002eog.1 - 4 806 c.554C>T c.(553-555)TCT>TTT p.S185F CDH8_uc002eoh.2_5'UTR NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 185 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GTTAGTGACAGATGTACCTAA 0.353 11 25 --- --- --- --- PASS CKLF 51192 broad.mit.edu 37 16 66592182 66592182 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr16:66592182C>G uc002eow.2 + 2 315 c.168C>G c.(166-168)ATC>ATG p.I56M CKLF_uc002eox.1_Missense_Mutation_p.I56M|CKLF_uc002eot.2_Missense_Mutation_p.I56M|CKLF_uc002eou.2_Intron|CKLF_uc002eov.2_Intron NM_016951 NP_058647 Q9UBR5 CKLF_HUMAN chemokine-like factor isoform a 56 Helical; (Potential).|MARVEL. cell proliferation|lymphocyte chemotaxis|macrophage chemotaxis|neutrophil chemotaxis|secretion by cell extracellular space|integral to membrane chemokine activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217) TCACCGTTATCTTATTTTTCA 0.338 33 51 --- --- --- --- PASS SLC7A6OS 84138 broad.mit.edu 37 16 68338045 68338045 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr16:68338045G>T uc002evw.1 - 3 581 c.562C>A c.(562-564)CAG>AAG p.Q188K NM_032178 NP_115554 Q96CW6 S7A6O_HUMAN solute carrier family 7, member 6 opposite 188 protein transport cytoplasm|nucleus ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106) TGTTCTTCCTGGCGCCTGACT 0.493 5 84 --- --- --- --- PASS CALB2 794 broad.mit.edu 37 16 71417890 71417890 + Silent SNP G A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr16:71417890G>A uc002faa.3 + 7 565 c.495G>A c.(493-495)TTG>TTA p.L165L CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_Silent_p.L165L NM_001740 NP_001731 P22676 CALB2_HUMAN calbindin 2 isoform 1 165 4 (Probable).|EF-hand 4. calcium ion binding 0 Ovarian(137;0.125) TGTTTGACTTGAACGGGGATG 0.532 51 19 --- --- --- --- PASS SPATA22 84690 broad.mit.edu 37 17 3352127 3352127 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr17:3352127C>A uc002fvm.2 - 6 883 c.646G>T c.(646-648)GAT>TAT p.D216Y SPATA22_uc010vrg.1_Missense_Mutation_p.D200Y|SPATA22_uc010vrf.1_Missense_Mutation_p.D216Y|SPATA22_uc002fvn.2_Missense_Mutation_p.D216Y|SPATA22_uc002fvo.2_Missense_Mutation_p.D216Y|SPATA22_uc002fvp.2_Missense_Mutation_p.D216Y|SPATA22_uc010ckf.2_Missense_Mutation_p.D173Y NM_032598 NP_115987 Q8NHS9 SPT22_HUMAN spermatogenesis associated 22 216 0 TCTGGAATATCATCCAACATT 0.303 36 16 --- --- --- --- PASS AMAC1L3 643664 broad.mit.edu 37 17 7386172 7386172 + Missense_Mutation SNP T C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr17:7386172T>C uc010cmj.1 + 2 984 c.869T>C c.(868-870)GTG>GCG p.V290A ZBTB4_uc002ghd.3_Intron|POLR2A_uc002ghe.2_5'Flank|POLR2A_uc002ghf.3_5'Flank NM_001102614 NP_001096084 P0C7Q6 AMCL3_HUMAN acyl-malonyl condensing enzyme 1-like 3 290 DUF6 2.|Helical; (Potential). integral to membrane 0 Prostate(122;0.173) CATTCCGAGGTGGTGGTGGCC 0.592 15 94 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Missense_Mutation SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr17:7578212G>C uc002gim.2 - 6 831 c.637C>G c.(637-639)CGA>GGA p.R213G TP53_uc002gig.1_Missense_Mutation_p.R213G|TP53_uc002gih.2_Missense_Mutation_p.R213G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R81G|TP53_uc010cng.1_Missense_Mutation_p.R81G|TP53_uc002gii.1_Missense_Mutation_p.R81G|TP53_uc010cnh.1_Missense_Mutation_p.R213G|TP53_uc010cni.1_Missense_Mutation_p.R213G|TP53_uc002gij.2_Missense_Mutation_p.R213G|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.R120G|TP53_uc002gio.2_Missense_Mutation_p.R81G|TP53_uc010vug.1_Missense_Mutation_p.R174G NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 213 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and 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.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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) ACACTATGTCGAAAAGTGTTT 0.532 111 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) 10 11 --- --- --- --- PASS MYH8 4626 broad.mit.edu 37 17 10309369 10309369 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr17:10309369C>A uc002gmm.2 - 21 2516 c.2421G>T c.(2419-2421)ATG>ATT p.M807I uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 807 IQ. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 TCCTTTGCAACATCTTCTGAT 0.358 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 22 19 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11738145 11738145 + Missense_Mutation SNP G A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr17:11738145G>A uc002gne.2 + 49 9505 c.9437G>A c.(9436-9438)TGT>TAT p.C3146Y DNAH9_uc010coo.2_Missense_Mutation_p.C2440Y NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 3146 Stalk (By similarity).|Potential. cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CAGAAGGACTGTGAGGAGGAC 0.547 15 13 --- --- --- --- PASS ALDH3A1 218 broad.mit.edu 37 17 19646725 19646725 + Nonsense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr17:19646725C>A uc010cqu.2 - 2 544 c.214G>T c.(214-216)GAG>TAG p.E72* ALDH3A1_uc010vzd.1_Nonsense_Mutation_p.E72*|ALDH3A1_uc002gwj.2_Nonsense_Mutation_p.E72*|ALDH3A1_uc010cqv.2_Nonsense_Mutation_p.E72*|ALDH3A1_uc002gwk.2_5'UTR|ALDH3A1_uc002gwl.1_5'UTR NM_001135168 NP_001128640 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3A1 72 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase ovary(1)|pancreas(1) 2 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) ATCATGTACTCGATCTCCTCT 0.607 5 95 --- --- --- --- PASS TAOK1 57551 broad.mit.edu 37 17 27809300 27809300 + Missense_Mutation SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr17:27809300G>C uc002hdz.1 + 8 843 c.649G>C c.(649-651)GAA>CAA p.E217Q TAOK1_uc010wbe.1_Missense_Mutation_p.E217Q|TAOK1_uc010wbf.1_Missense_Mutation_p.E217Q|TAOK1_uc002heb.1_Missense_Mutation_p.E43Q NM_020791 NP_065842 Q7L7X3 TAOK1_HUMAN TAO kinase 1 217 Protein kinase. mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Colorectal(6;0.198) AACATGTATTGAACTAGGTAA 0.323 20 107 --- --- --- --- PASS SLFN12 55106 broad.mit.edu 37 17 33749131 33749131 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr17:33749131C>A uc002hji.3 - 2 1294 c.917G>T c.(916-918)AGA>ATA p.R306I SLFN12_uc002hjj.3_Missense_Mutation_p.R306I|SLFN12_uc010cts.2_Missense_Mutation_p.R306I NM_018042 NP_060512 Q8IYM2 SLN12_HUMAN schlafen family member 12 306 ATP binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GCGCTCCACTCTGAGTGCACA 0.433 5 42 --- --- --- --- PASS GGNBP2 79893 broad.mit.edu 37 17 34942339 34942339 + Missense_Mutation SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr17:34942339C>T uc002hnb.2 + 11 1685 c.1436C>T c.(1435-1437)TCT>TTT p.S479F GGNBP2_uc002hna.2_3'UTR|GGNBP2_uc002hnc.1_Missense_Mutation_p.S308F NM_024835 NP_079111 Q9H3C7 GGNB2_HUMAN zinc finger protein 403 479 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle ovary(2) 2 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) GAAACAGGTTCTCGGGAGGGT 0.423 20 27 --- --- --- --- PASS PNMT 5409 broad.mit.edu 37 17 37826627 37826627 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr17:37826627G>T uc002hsi.1 + 3 1056 c.834G>T c.(832-834)CAG>CAT p.Q278H NM_002686 NP_002677 P11086 PNMT_HUMAN phenylethanolamine N-methyltransferase 278 catecholamine biosynthetic process|hormone biosynthetic process cytosol phenylethanolamine N-methyltransferase activity ovary(1) 1 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CCTGGGCTCAGAAGGTTGGGC 0.562 3 5 --- --- --- --- PASS CNTNAP1 8506 broad.mit.edu 37 17 40842122 40842122 + Silent SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr17:40842122C>A uc002iay.2 + 12 1968 c.1752C>A c.(1750-1752)TCC>TCA p.S584S CNTNAP1_uc010wgs.1_RNA NM_003632 NP_003623 P78357 CNTP1_HUMAN contactin associated protein 1 precursor 584 Extracellular (Potential).|Fibrinogen C-terminal. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1) 8 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) ATAAGGAATCCTGTGAGGCTT 0.383 6 115 --- --- --- --- PASS MAP3K14 9020 broad.mit.edu 37 17 43350976 43350976 + Splice_Site SNP T A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr17:43350976T>A uc002iiw.1 - 10 1662 c.1553_splice c.e10-1 p.A518_splice MAP3K14_uc002iiu.1_Silent_p.A47A|MAP3K14_uc010daj.1_Splice_Site|MAP3K14_uc002iiv.1_Splice_Site_p.A102_splice NM_003954 NP_003945 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1) 8 CGTTGTCAGCTGCCAGGCCGC 0.617 7 13 --- --- --- --- PASS CCDC47 57003 broad.mit.edu 37 17 61824274 61824274 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr17:61824274C>G uc002jbs.3 - 13 1755 c.1419G>C c.(1417-1419)ATG>ATC p.M473I CCDC47_uc010ddx.2_Missense_Mutation_p.M473I NM_020198 NP_064583 Q96A33 CCD47_HUMAN coiled-coil domain containing 47 precursor 473 Potential. integral to membrane protein binding 0 GTTTCATTTTCATTTGCTTCT 0.413 15 43 --- --- --- --- PASS QRICH2 84074 broad.mit.edu 37 17 74287975 74287975 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr17:74287975C>A uc002jrd.1 - 4 2515 c.2335G>T c.(2335-2337)GGT>TGT p.G779C QRICH2_uc010wsz.1_Missense_Mutation_p.G705C|QRICH2_uc010dgw.1_Intron NM_032134 NP_115510 Q9H0J4 QRIC2_HUMAN glutamine rich 2 779 protein binding ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1) 5 AAATATGCACCAGGTTGTACC 0.498 6 138 --- --- --- --- PASS NDC80 10403 broad.mit.edu 37 18 2595474 2595474 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr18:2595474C>A uc002kli.2 + 11 1257 c.1075C>A c.(1075-1077)CAG>AAG p.Q359K NM_006101 NP_006092 O14777 NDC80_HUMAN kinetochore associated 2 359 Interaction with the N-terminus of CDCA1.|Potential.|Interaction with NEK2 and ZWINT.|Interaction with SMC1A. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding ovary(1) 1 CATTGACAACCAGAAGTACTC 0.333 5 70 --- --- --- --- PASS SMCHD1 23347 broad.mit.edu 37 18 2740761 2740761 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr18:2740761C>G uc002klm.3 + 28 3764 c.3575C>G c.(3574-3576)TCT>TGT p.S1192C SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 1192 chromosome organization ATP binding 0 AGTTCTTTATCTTCTTTGTCA 0.303 16 43 --- --- --- --- PASS TMEM200C 645369 broad.mit.edu 37 18 5891948 5891948 + Missense_Mutation SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr18:5891948C>T uc002kmx.1 - 1 156 c.115G>A c.(115-117)GTG>ATG p.V39M NM_001080209 NP_001073678 A6NKL6 T200C_HUMAN transmembrane protein 200C 39 integral to membrane 0 ACCACCACCACGTCGTTCTTG 0.607 8 24 --- --- --- --- PASS OSBPL1A 114876 broad.mit.edu 37 18 21819282 21819282 + Missense_Mutation SNP G A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr18:21819282G>A uc002kve.2 - 16 1520 c.1346C>T c.(1345-1347)ACG>ATG p.T449M OSBPL1A_uc002kvd.2_Translation_Start_Site|OSBPL1A_uc010xbc.1_Missense_Mutation_p.T67M|OSBPL1A_uc002kvf.3_Missense_Mutation_p.T229M NM_080597 NP_542164 Q9BXW6 OSBL1_HUMAN oxysterol-binding protein-like 1A isoform B 449 Potential. cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding ovary(4) 4 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) AGTGGCCAGCGTCTCCAGTGC 0.443 6 28 --- --- --- --- PASS RNF125 54941 broad.mit.edu 37 18 29617122 29617122 + Missense_Mutation SNP T C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr18:29617122T>C uc002kxf.1 + 2 590 c.208T>C c.(208-210)TGG>CGG p.W70R NM_017831 NP_060301 Q96EQ8 RN125_HUMAN ring finger protein 125 70 RING-type. negative regulation of type I interferon production intracellular ligase activity|zinc ion binding 0 GAACAACAAGTGGACCTGTCC 0.438 86 98 --- --- --- --- PASS TCEB3C 162699 broad.mit.edu 37 18 44555280 44555280 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr18:44555280G>T uc010xdb.1 - 1 1170 c.934C>A c.(934-936)CCT>ACT p.P312T KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 312 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding 0 CTGCGTCCAGGGAAAGCAGCT 0.652 11 385 --- --- --- --- PASS ZADH2 284273 broad.mit.edu 37 18 72914002 72914002 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr18:72914002C>A uc002llx.2 - 2 771 c.503G>T c.(502-504)GGA>GTA p.G168V ZADH2_uc010dqv.2_Missense_Mutation_p.G45V NM_175907 NP_787103 Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain 168 peroxisome oxidoreductase activity|zinc ion binding 0 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) CGACAGTCCTCCGAGCTCTTT 0.532 10 370 --- --- --- --- PASS SLC39A3 29985 broad.mit.edu 37 19 2733429 2733429 + Missense_Mutation SNP T C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:2733429T>C uc002lwg.2 - 3 519 c.265A>G c.(265-267)ACC>GCC p.T89A SLC39A3_uc010xgy.1_Missense_Mutation_p.T89A NM_144564 NP_653165 Q9BRY0 S39A3_HUMAN solute carrier family 39 (zinc transporter), 89 Helical; (Potential). integral to membrane|plasma membrane zinc ion transmembrane transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGAGGATGGTTTCGGCCAGC 0.612 28 46 --- --- --- --- PASS FUT3 2525 broad.mit.edu 37 19 5844194 5844194 + Silent SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:5844194C>A uc002mdk.2 - 2 754 c.657G>T c.(655-657)GTG>GTT p.V219V FUT3_uc002mdm.2_Silent_p.V219V|FUT3_uc002mdj.2_Silent_p.V219V|FUT3_uc002mdl.2_Silent_p.V219V NM_001097641 NP_001091110 P21217 FUT3_HUMAN fucosyltransferase 3 219 Lumenal (Potential). protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity 0 CGTACACGTCCACCTTGAGAT 0.627 5 68 --- --- --- --- PASS RFX2 5990 broad.mit.edu 37 19 6040087 6040087 + Missense_Mutation SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:6040087G>C uc002meb.2 - 5 695 c.426C>G c.(424-426)AGC>AGG p.S142R RFX2_uc002mec.2_Missense_Mutation_p.S142R|RFX2_uc010xiy.1_Missense_Mutation_p.S97R NM_000635 NP_000626 P48378 RFX2_HUMAN regulatory factor X2 isoform a 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|ovary(1)|skin(1) 6 AGACGATGGGGCTCCCCCCGA 0.697 5 22 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9091388 9091388 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:9091388C>G uc002mkp.2 - 1 631 c.427G>C c.(427-429)GAA>CAA p.E143Q NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 143 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTAGATGCTTCTTTGGTAAAA 0.488 9 74 --- --- --- --- PASS RDH8 50700 broad.mit.edu 37 19 10131451 10131451 + Missense_Mutation SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:10131451C>T uc002mmr.2 + 4 758 c.509C>T c.(508-510)GCT>GTT p.A170V NM_015725 NP_056540 Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 170 Helical; (Potential). estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity ovary(3)|pancreas(1) 4 Epithelial(33;4.24e-05) Vitamin A(DB00162) GAAAGCCTCGCTATCCAGCTG 0.577 13 13 --- --- --- --- PASS ZNF98 148198 broad.mit.edu 37 19 22575630 22575630 + Missense_Mutation SNP T C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:22575630T>C uc002nqt.2 - 4 529 c.407A>G c.(406-408)AAA>AGA p.K136R NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN zinc finger protein 98 136 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) GTAACATTCTTTGTGCACCTT 0.294 8 32 --- --- --- --- PASS ZNF91 7644 broad.mit.edu 37 19 23545174 23545174 + Missense_Mutation SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:23545174C>T uc002nre.2 - 4 720 c.607G>A c.(607-609)GTT>ATT p.V203I ZNF91_uc010xrj.1_Missense_Mutation_p.V171I NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 203 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GTAATATAAACGCATTTATGT 0.318 6 50 --- --- --- --- PASS TSHZ3 57616 broad.mit.edu 37 19 31769798 31769798 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:31769798G>T uc002nsy.3 - 2 966 c.901C>A c.(901-903)CAA>AAA p.Q301K NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 301 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) GGCACTTTTTGGTAGTGTTTT 0.537 6 79 --- --- --- --- PASS ZNF585A 199704 broad.mit.edu 37 19 37642521 37642521 + Silent SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:37642521C>A uc002ofo.1 - 5 2511 c.2280G>T c.(2278-2280)GTG>GTT p.V760V ZNF585A_uc002ofm.1_Silent_p.V705V|ZNF585A_uc002ofn.1_Silent_p.V705V NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN zinc finger protein 585A 760 C2H2-type 22. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGACGCTGAACACTGATTTCT 0.483 21 81 --- --- --- --- PASS FBXO27 126433 broad.mit.edu 37 19 39521752 39521752 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:39521752C>G uc002okh.2 - 4 571 c.489G>C c.(487-489)AAG>AAC p.K163N NM_178820 NP_849142 Q8NI29 FBX27_HUMAN F-box protein 27 163 FBA. protein catabolic process SCF ubiquitin ligase complex glycoprotein binding ovary(1) 1 all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) AGACCTGCTTCTTGCAACACC 0.532 34 159 --- --- --- --- PASS EXOSC5 56915 broad.mit.edu 37 19 41903110 41903110 + Missense_Mutation SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:41903110C>T uc002oqo.2 - 1 147 c.124G>A c.(124-126)GAT>AAT p.D42N CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Intron|BCKDHA_uc002oqp.1_5'Flank|BCKDHA_uc002oqq.2_5'Flank|BCKDHA_uc002oqr.2_5'Flank|BCKDHA_uc010xvz.1_5'Flank NM_020158 NP_064543 Q9NQT4 EXOS5_HUMAN exosome component Rrp46 42 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|protein binding|RNA binding 0 GCAGAGCCATCTGGCCGCGAC 0.587 37 161 --- --- --- --- PASS CEACAM3 1084 broad.mit.edu 37 19 42314027 42314027 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:42314027G>T uc002orn.1 + 4 643 c.567G>T c.(565-567)AAG>AAT p.K189N CEACAM3_uc010eia.1_Intron|CEACAM3_uc002oro.1_RNA NM_001815 NP_001806 P40198 CEAM3_HUMAN carcinoembryonic antigen-related cell adhesion 189 Cytoplasmic (Potential). integral to membrane skin(1) 1 GTGACCTCAAGGAGCAGCAGC 0.592 10 394 --- --- --- --- PASS GSK3A 2931 broad.mit.edu 37 19 42740845 42740845 + Silent SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:42740845C>A uc002otb.1 - 4 698 c.579G>T c.(577-579)CTG>CTT p.L193L GSK3A_uc002ota.1_Silent_p.L111L|GSK3A_uc002otc.2_RNA NM_019884 NP_063937 P49840 GSK3A_HUMAN glycogen synthase kinase 3 alpha 193 Protein kinase. insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process beta-catenin destruction complex|cytosol ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity ovary(2)|lung(2) 4 Prostate(69;0.00682) ATTCCAGCACCAGATTTAGGT 0.557 6 142 --- --- --- --- PASS PSG8 440533 broad.mit.edu 37 19 43262247 43262247 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:43262247C>A uc002ouo.2 - 3 714 c.616G>T c.(616-618)GGT>TGT p.G206C PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Missense_Mutation_p.G45C|PSG8_uc002ouh.2_Missense_Mutation_p.G206C|PSG8_uc010ein.2_Missense_Mutation_p.G84C|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Missense_Mutation_p.G45C|PSG8_uc002oul.3_Missense_Mutation_p.G206C|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Intron NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform 206 Ig-like C2-type 1. extracellular region 0 Prostate(69;0.00899) TTTGTGACACCCAATAGAAAG 0.522 11 541 --- --- --- --- PASS ZNF235 9310 broad.mit.edu 37 19 44793188 44793188 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:44793188G>T uc002oza.3 - 5 503 c.400C>A c.(400-402)CCC>ACC p.P134T ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.P130T|ZNF235_uc010xwx.1_Missense_Mutation_p.P48T NM_004234 NP_004225 Q14590 ZN235_HUMAN zinc finger protein 93 homolog 134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1) 3 Prostate(69;0.0352)|all_neural(266;0.116) TGGTGCTTGGGGAACTGAGAG 0.458 8 191 --- --- --- --- PASS ZNF229 7772 broad.mit.edu 37 19 44932748 44932748 + Silent SNP G A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:44932748G>A uc002oze.1 - 6 2642 c.2208C>T c.(2206-2208)GGC>GGT p.G736G ZNF229_uc010ejk.1_Silent_p.G390G|ZNF229_uc010ejl.1_Silent_p.G730G NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN zinc finger protein 229 736 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 Prostate(69;0.0352) ATGGCTTCTCGCCAGTGTGCA 0.488 20 48 --- --- --- --- PASS ZNF229 7772 broad.mit.edu 37 19 44932971 44932971 + Missense_Mutation SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:44932971C>T uc002oze.1 - 6 2419 c.1985G>A c.(1984-1986)GGA>GAA p.G662E ZNF229_uc010ejk.1_Missense_Mutation_p.G316E|ZNF229_uc010ejl.1_Missense_Mutation_p.G656E NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN zinc finger protein 229 662 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 Prostate(69;0.0352) AAAGCCCTTTCCGCACTCTTG 0.493 31 161 --- --- --- --- PASS IGFL2 147920 broad.mit.edu 37 19 46664046 46664046 + Silent SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:46664046C>A uc010xxv.1 + 3 285 c.249C>A c.(247-249)TCC>TCA p.S83S IGFL2_uc002peb.2_Silent_p.S94S NM_001135113 NP_001128585 Q6UWQ7 IGFL2_HUMAN IGF-like family member 2 isoform b 83 extracellular region protein binding 0 Ovarian(192;0.0908)|all_neural(266;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247) GTCTTGATTCCTTTGGCCTCA 0.527 8 373 --- --- --- --- PASS BCAT2 587 broad.mit.edu 37 19 49310325 49310325 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:49310325C>A uc002pkr.2 - 2 68 c.31G>T c.(31-33)GCA>TCA p.A11S BCAT2_uc002pkp.2_5'UTR|BCAT2_uc002pkq.3_5'UTR|BCAT2_uc002pks.2_5'UTR|BCAT2_uc002pkt.2_Intron|BCAT2_uc010emh.1_Missense_Mutation_p.A11S|BCAT2_uc010emi.1_Intron|BCAT2_uc002pku.1_5'UTR|BCAT2_uc010emj.1_RNA NM_001190 NP_001181 O15382 BCAT2_HUMAN branched chain aminotransferase 2, mitochondrial 11 mitochondrial matrix L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity ovary(1) 1 all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224) L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114) AGCTTTCGTGCCCAGATCTGG 0.587 12 15 --- --- --- --- PASS TULP2 7288 broad.mit.edu 37 19 49398264 49398264 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:49398264G>T uc002pkz.2 - 6 656 c.505C>A c.(505-507)CAA>AAA p.Q169K NM_003323 NP_003314 O00295 TULP2_HUMAN tubby like protein 2 169 visual perception cytoplasm|extracellular region ovary(1)|kidney(1)|skin(1) 3 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) CCAGGTCGTTGGTGGGCTTGC 0.488 4 23 --- --- --- --- PASS NUCB1 4924 broad.mit.edu 37 19 49416395 49416395 + Missense_Mutation SNP A T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:49416395A>T uc002plb.3 + 6 680 c.608A>T c.(607-609)GAG>GTG p.E203V NUCB1_uc002pla.2_Missense_Mutation_p.E203V|NUCB1_uc002plc.2_Missense_Mutation_p.E203V NM_006184 NP_006175 Q02818 NUCB1_HUMAN nucleobindin 1 precursor 203 Potential.|Potential. ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton calcium ion binding|DNA binding 0 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) AAGGAGGCGGAGAGGAAGCTG 0.572 24 14 --- --- --- --- PASS CACNG7 59284 broad.mit.edu 37 19 54416243 54416243 + Missense_Mutation SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:54416243C>T uc002qcr.1 + 1 173 c.158C>T c.(157-159)GCC>GTC p.A53V CACNG7_uc010era.1_Missense_Mutation_p.A53V NM_031896 NP_114102 P62955 CCG7_HUMAN voltage-dependent calcium channel gamma-7 53 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(1) 1 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) GTCAAGATGGCCCTGCACGCC 0.592 5 35 --- --- --- --- PASS LENG9 94059 broad.mit.edu 37 19 54973455 54973455 + Missense_Mutation SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:54973455G>C uc010yez.1 - 1 1440 c.1321C>G c.(1321-1323)CCA>GCA p.P441A NM_198988 NP_945339 Q96B70 LENG9_HUMAN leukocyte receptor cluster (LRC) member 9 441 RNA metabolic process intracellular catalytic activity|nucleic acid binding|zinc ion binding 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.134) AGCTGCCCTGGAGACTGTAGT 0.642 15 45 --- --- --- --- PASS NLRP13 126204 broad.mit.edu 37 19 56423991 56423991 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:56423991G>T uc010ygg.1 - 5 1217 c.1192C>A c.(1192-1194)CAC>AAC p.H398N NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 398 NACHT. ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TCATCAAAGTGTCTCATGAAA 0.448 43 48 --- --- --- --- PASS ZFP28 140612 broad.mit.edu 37 19 57066051 57066051 + Missense_Mutation SNP G A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:57066051G>A uc002qnj.2 + 8 1968 c.1897G>A c.(1897-1899)GCC>ACC p.A633T uc002qnk.1_Intron NM_020828 NP_065879 Q8NHY6 ZFP28_HUMAN zinc finger protein 28 633 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) TTCTCAGCTTGCCACTCATCA 0.453 39 98 --- --- --- --- PASS ZNF543 125919 broad.mit.edu 37 19 57839995 57839995 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:57839995C>A uc002qoi.1 + 4 1510 c.1165C>A c.(1165-1167)CAC>AAC p.H389N NM_213598 NP_998763 Q08ER8 ZN543_HUMAN zinc finger protein 543 389 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1)|pancreas(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CTACATTATCCACACTGGGGA 0.502 5 68 --- --- --- --- PASS RBCK1 10616 broad.mit.edu 37 20 409639 409639 + Silent SNP G A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr20:409639G>A uc002wdp.3 + 11 2046 c.1353G>A c.(1351-1353)CAG>CAA p.Q451Q RBCK1_uc002wdq.3_Silent_p.Q409Q|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Silent_p.Q281Q NM_031229 NP_112506 Q9BYM8 HOIL1_HUMAN RanBP-type and C3HC4-type zinc finger containing 451 IBR-type 2. interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway LUBAC complex protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231) CCCAGTGCCAGATCGTGGTAC 0.701 7 24 --- --- --- --- PASS C20orf194 25943 broad.mit.edu 37 20 3268434 3268434 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr20:3268434C>A uc002wii.2 - 27 2381 c.2330G>T c.(2329-2331)TGG>TTG p.W777L C20orf194_uc002wij.3_Missense_Mutation_p.W516L|C20orf194_uc002wik.2_Missense_Mutation_p.W451L NM_001009984 NP_001009984 Q5TEA3 CT194_HUMAN hypothetical protein LOC25943 777 0 ATACACCATCCATCTGGAAAG 0.507 5 91 --- --- --- --- PASS MACROD2 140733 broad.mit.edu 37 20 13982995 13982995 + Silent SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr20:13982995C>T uc002wou.2 + 2 372 c.108C>T c.(106-108)CCC>CCT p.P36P MACROD2_uc002wot.2_Silent_p.P36P|MACROD2_uc002wos.2_RNA NM_080676 NP_542407 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 isoform 1 36 0 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) ACTATATTCCCCTGAACAGCA 0.368 35 43 --- --- --- --- PASS NINL 22981 broad.mit.edu 37 20 25462703 25462703 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr20:25462703C>G uc002wux.1 - 14 1785 c.1711G>C c.(1711-1713)GAG>CAG p.E571Q NINL_uc010gdn.1_Missense_Mutation_p.E571Q|NINL_uc010gdo.1_Missense_Mutation_p.E354Q NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 571 Potential. G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 CCTTCCAGCTCAGCTTGCAGC 0.687 9 31 --- --- --- --- PASS TRPC4AP 26133 broad.mit.edu 37 20 33593519 33593519 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr20:33593519C>G uc002xbk.2 - 16 1949 c.1915G>C c.(1915-1917)GAA>CAA p.E639Q TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Missense_Mutation_p.E230Q|TRPC4AP_uc002xbl.2_Missense_Mutation_p.E631Q|TRPC4AP_uc010zur.1_Missense_Mutation_p.E600Q NM_015638 NP_056453 Q8TEL6 TP4AP_HUMAN TRPC4-associated protein isoform a 639 protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00936) ACCTGGTTTTCAAATCGGTCC 0.517 60 84 --- --- --- --- PASS TRPC4AP 26133 broad.mit.edu 37 20 33593586 33593586 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr20:33593586C>G uc002xbk.2 - 16 1882 c.1848G>C c.(1846-1848)CAG>CAC p.Q616H TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Missense_Mutation_p.Q207H|TRPC4AP_uc002xbl.2_Missense_Mutation_p.Q608H|TRPC4AP_uc010zur.1_Missense_Mutation_p.Q577H NM_015638 NP_056453 Q8TEL6 TP4AP_HUMAN TRPC4-associated protein isoform a 616 protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00936) AGCTGTTGATCTGCTTCAGGA 0.522 42 73 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10942775 10942775 + Splice_Site SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr21:10942775C>A uc002yip.1 - 13 1035 c.667_splice c.e13-1 p.V223_splice TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.V205_splice|TPTE_uc002yir.1_Splice_Site_p.V185_splice|TPTE_uc010gkv.1_Splice_Site_p.V85_splice NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTTCTGAAACCTGACAGTTTA 0.348 8 380 --- --- --- --- PASS DONSON 29980 broad.mit.edu 37 21 34956954 34956954 + Missense_Mutation SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr21:34956954C>T uc002ysk.2 - 4 794 c.727G>A c.(727-729)GGA>AGA p.G243R DONSON_uc002ysn.1_Missense_Mutation_p.G126R|DONSON_uc002ysi.1_Missense_Mutation_p.G3R|DONSON_uc002ysj.2_5'UTR|DONSON_uc002ysl.2_5'UTR|DONSON_uc010gme.2_Missense_Mutation_p.G216R|DONSON_uc002ysm.2_Missense_Mutation_p.G243R NM_017613 NP_060083 Q9NYP3 DONS_HUMAN downstream neighbor of SON 243 multicellular organismal development nucleus ovary(1)|central_nervous_system(1) 2 CTTGTCTTTCCAGCCATTTTT 0.428 4 37 --- --- --- --- PASS TTC3 7267 broad.mit.edu 37 21 38459592 38459592 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr21:38459592C>A uc002yvz.2 + 2 140 c.35C>A c.(34-36)GCG>GAG p.A12E TTC3_uc011aee.1_Intron|TTC3_uc002ywa.2_Missense_Mutation_p.A12E|TTC3_uc002ywb.2_Missense_Mutation_p.A12E|TTC3_uc010gnf.2_5'UTR|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Missense_Mutation_p.A12E NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 12 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) TTCACTGTGGCGGATTATGCC 0.403 6 114 --- --- --- --- PASS BRWD1 54014 broad.mit.edu 37 21 40572204 40572204 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr21:40572204C>A uc002yxk.1 - 39 4833 c.4694G>T c.(4693-4695)GGG>GTG p.G1565V BRWD1_uc010goc.1_Missense_Mutation_p.G208V|BRWD1_uc002yxl.2_Missense_Mutation_p.G1565V NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1565 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TCTGGATAGCCCACTGCGTGA 0.438 6 107 --- --- --- --- PASS SNAP29 9342 broad.mit.edu 37 22 21224807 21224807 + Silent SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr22:21224807C>A uc011ahw.1 + 2 527 c.420C>A c.(418-420)TCC>TCA p.S140S NM_004782 NP_004773 O95721 SNP29_HUMAN synaptosomal-associated protein 29 140 cellular membrane fusion|exocytosis|protein transport|vesicle targeting cell junction|cytoplasm|nucleus|synapse|synaptosome SNAP receptor activity 0 all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117) CCCTCACCTCCCAGCCCAACA 0.488 4 18 --- --- --- --- PASS AP1B1 162 broad.mit.edu 37 22 29727776 29727776 + Silent SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr22:29727776C>T uc003afj.2 - 18 2623 c.2439G>A c.(2437-2439)CAG>CAA p.Q813Q AP1B1_uc003afi.2_Silent_p.Q806Q|AP1B1_uc003afk.2_Silent_p.Q806Q|AP1B1_uc003afl.2_Silent_p.Q786Q|AP1B1_uc003afh.2_Silent_p.Q10Q|AP1B1_uc011ako.1_Silent_p.Q366Q NM_001127 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1 beta 1 subunit 813 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity ovary(1)|skin(1) 2 CGGAACCCACCTGGAGGTTGT 0.627 8 23 --- --- --- --- PASS PES1 23481 broad.mit.edu 37 22 30975749 30975749 + Missense_Mutation SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr22:30975749C>T uc003aij.1 - 12 1417 c.1343G>A c.(1342-1344)GGA>GAA p.G448E PES1_uc003aik.1_Missense_Mutation_p.G443E|PES1_uc003ail.1_Missense_Mutation_p.G431E|PES1_uc003aim.1_Missense_Mutation_p.G448E|PES1_uc003ain.1_Missense_Mutation_p.G309E|PES1_uc003aio.1_Missense_Mutation_p.G309E NM_014303 NP_055118 O00541 PESC_HUMAN pescadillo homolog 1, containing BRCT domain 448 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)|regulation of cell cycle chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding 0 TGGGTCCTCTCCCCGCTGCAG 0.617 10 33 --- --- --- --- PASS PES1 23481 broad.mit.edu 37 22 30975750 30975750 + Missense_Mutation SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr22:30975750C>T uc003aij.1 - 12 1416 c.1342G>A c.(1342-1344)GGA>AGA p.G448R PES1_uc003aik.1_Missense_Mutation_p.G443R|PES1_uc003ail.1_Missense_Mutation_p.G431R|PES1_uc003aim.1_Missense_Mutation_p.G448R|PES1_uc003ain.1_Missense_Mutation_p.G309R|PES1_uc003aio.1_Missense_Mutation_p.G309R NM_014303 NP_055118 O00541 PESC_HUMAN pescadillo homolog 1, containing BRCT domain 448 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)|regulation of cell cycle chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding 0 GGGTCCTCTCCCCGCTGCAGA 0.622 10 33 --- --- --- --- PASS TRIOBP 11078 broad.mit.edu 37 22 38121252 38121252 + Missense_Mutation SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr22:38121252C>T uc003atr.2 + 7 2960 c.2689C>T c.(2689-2691)CCC>TCC p.P897S TRIOBP_uc003atu.2_Missense_Mutation_p.P725S|TRIOBP_uc003atq.1_Missense_Mutation_p.P897S|TRIOBP_uc003ats.1_Missense_Mutation_p.P725S NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 897 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) GAATTCATCTCCCCATCGTAC 0.547 43 110 --- --- --- --- PASS SEPT3 55964 broad.mit.edu 37 22 42383754 42383754 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr22:42383754C>A uc003bbr.3 + 5 680 c.542C>A c.(541-543)ACA>AAA p.T181K WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_Missense_Mutation_p.T181K|SEPT3_uc010gyr.2_Missense_Mutation_p.T117K|SEPT3_uc011apj.1_Missense_Mutation_p.T117K|SEPT3_uc010gys.2_5'UTR NM_145733 NP_663786 Q9UH03 SEPT3_HUMAN septin 3 isoform A 181 cell cycle|cytokinesis cell junction|septin complex GTP binding 0 ATCTCTCCCACAGGACACTCG 0.517 5 26 --- --- --- --- PASS PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45198006 45198006 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr22:45198006G>T uc003bfd.2 + 9 1163 c.891G>T c.(889-891)ATG>ATT p.M297I PRR5-ARHGAP8_uc003bfc.2_Missense_Mutation_p.M174I|PRR5-ARHGAP8_uc011aqi.1_Missense_Mutation_p.M165I|PRR5-ARHGAP8_uc011aqj.1_Missense_Mutation_p.M79I|ARHGAP8_uc003bfi.2_Missense_Mutation_p.M43I|ARHGAP8_uc010gzv.2_Missense_Mutation_p.M43I|ARHGAP8_uc003bfj.2_Missense_Mutation_p.M43I|ARHGAP8_uc003bfk.2_Missense_Mutation_p.M43I|ARHGAP8_uc003bfl.2_Intron|PRR5-ARHGAP8_uc003bfg.1_Missense_Mutation_p.M79I NM_181335 NP_851852 Rho GTPase activating protein 8 isoform 2 skin(2) 2 GCTGCCGGATGCCACCCTCCC 0.582 27 26 --- --- --- --- PASS FAM116B 414918 broad.mit.edu 37 22 50754502 50754502 + Silent SNP G A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr22:50754502G>A uc011aru.1 - 9 726 c.654C>T c.(652-654)TCC>TCT p.S218S FAM116B_uc011arv.1_Silent_p.S218S NM_001001794 NP_001001794 Q8NEG7 F116B_HUMAN family with sequence similarity 116, member B 218 0 all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TGTCCACCCTGGATGGGATGC 0.622 19 64 --- --- --- --- PASS REPS2 9185 broad.mit.edu 37 X 17043189 17043189 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chrX:17043189C>A uc004cxv.1 + 4 725 c.554C>A c.(553-555)ACA>AAA p.T185K REPS2_uc004cxw.1_Missense_Mutation_p.T184K|REPS2_uc011miw.1_Missense_Mutation_p.T44K NM_004726 NP_004717 Q8NFH8 REPS2_HUMAN RALBP1 associated Eps domain containing 2 185 epidermal growth factor receptor signaling pathway|protein complex assembly cytoplasm calcium ion binding|protein binding skin(2)|central_nervous_system(1) 3 Hepatocellular(33;0.183) AAGCAGGAAACACAGTCTCCC 0.572 13 30 --- --- --- --- PASS PDHA1 5160 broad.mit.edu 37 X 19368220 19368220 + Missense_Mutation SNP G T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chrX:19368220G>T uc004czg.3 + 3 428 c.283G>T c.(283-285)GAT>TAT p.D95Y PDHA1_uc004czh.3_Missense_Mutation_p.D130Y|PDHA1_uc011mjc.1_Missense_Mutation_p.D92Y|PDHA1_uc011mjd.1_Missense_Mutation_p.D92Y|PDHA1_uc010nfk.2_Missense_Mutation_p.D92Y NM_000284 NP_000275 P08559 ODPA_HUMAN pyruvate dehydrogenase E1 alpha 1 precursor 95 glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity ovary(1) 1 Hepatocellular(33;0.183) NADH(DB00157) TCACTTGTGTGATGGTCAGGT 0.423 47 13 --- --- --- --- PASS FAM47A 158724 broad.mit.edu 37 X 34149721 34149721 + Silent SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chrX:34149721C>T uc004ddg.2 - 1 708 c.675G>A c.(673-675)CCG>CCA p.P225P NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 225 Pro-rich. p.P225P(1) ovary(4)|central_nervous_system(1) 5 CAGGAGGCTCCGGGCGGAGAC 0.657 18 4 --- --- --- --- PASS SERPINA7 6906 broad.mit.edu 37 X 105280577 105280577 + Missense_Mutation SNP A T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chrX:105280577A>T uc004eme.1 - 1 489 c.473T>A c.(472-474)GTC>GAC p.V158D SERPINA7_uc010npd.2_Missense_Mutation_p.V158D|SERPINA7_uc010npe.1_Missense_Mutation_p.V158D NM_000354 NP_000345 P05543 THBG_HUMAN serine (or cysteine) proteinase inhibitor, clade 158 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity 0 Levothyroxine(DB00451)|Liothyronine(DB00279) GGTAGAAAAGACTTCAGTCTC 0.438 77 23 --- --- --- --- PASS GUCY2F 2986 broad.mit.edu 37 X 108635314 108635314 + Silent SNP G C C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chrX:108635314G>C uc004eod.3 - 14 2883 c.2607C>G c.(2605-2607)CTC>CTG p.L869L GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 869 Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 AGCCCTTTTTGAGAGATTCAG 0.463 10 22 --- --- --- --- PASS TRPC5 7224 broad.mit.edu 37 X 111025218 111025218 + Missense_Mutation SNP C G G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chrX:111025218C>G uc004epl.1 - 8 2964 c.2045G>C c.(2044-2046)TGC>TCC p.C682S TRPC5_uc004epm.1_Missense_Mutation_p.C682S NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 682 Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 TCTTTTGGGGCAGAAGGTGTT 0.403 56 22 --- --- --- --- PASS RBMX2 51634 broad.mit.edu 37 X 129545364 129545364 + Missense_Mutation SNP C T T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chrX:129545364C>T uc004evt.2 + 5 410 c.346C>T c.(346-348)CGG>TGG p.R116W NM_016024 NP_057108 Q9Y388 RBMX2_HUMAN RNA binding motif protein, X-linked 2 116 nucleotide binding|RNA binding breast(3)|ovary(1) 4 GTCTAACTATCGGGCTCCTAA 0.488 11 45 --- --- --- --- PASS MAGEA10 4109 broad.mit.edu 37 X 151303874 151303874 + Missense_Mutation SNP C A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chrX:151303874C>A uc004ffk.2 - 5 627 c.219G>T c.(217-219)GAG>GAT p.E73D MAGEA10_uc004ffl.2_Missense_Mutation_p.E73D NM_001011543 NP_001011543 P43363 MAGAA_HUMAN melanoma antigen family A, 10 73 0 Acute lymphoblastic leukemia(192;6.56e-05) CAGCAGAAACCTCCTCTGGGG 0.388 5 66 --- --- --- --- PASS DNASE1L1 1774 broad.mit.edu 37 X 153631373 153631373 + Silent SNP G A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chrX:153631373G>A uc004fks.1 - 7 875 c.684C>T c.(682-684)CGC>CGT p.R228R RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Intron|DNASE1L1_uc004fkt.1_Silent_p.R228R|DNASE1L1_uc004fku.1_Silent_p.R228R|DNASE1L1_uc004fkv.1_Silent_p.R228R|DNASE1L1_uc004fkw.1_Silent_p.R228R NM_006730 NP_006721 P49184 DNSL1_HUMAN deoxyribonuclease I-like 1 precursor 228 DNA catabolic process endoplasmic reticulum DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters 0 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCAGCACGACGCGGTCATAGG 0.647 10 15 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 3 195962122 195962123 + RNA INS - A A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr3:195962122_195962123insA uc003fwf.1 - 1 c.2663_2664insT Homo sapiens full length insert cDNA clone ZD56D02. GTGCAGCCTCCAAAAAAAAATC 0.495 4 2 --- --- --- --- FAM83B 222584 broad.mit.edu 37 6 54735463 54735463 + Frame_Shift_Del DEL G - - TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr6:54735463delG uc003pck.2 + 2 535 c.419delG c.(418-420)CGGfs p.R140fs NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 140 p.R140R(1) ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) GAAACTATTCGGAAGATGATA 0.358 42 22 --- --- --- --- HGC6.3 100128124 broad.mit.edu 37 6 168376961 168376962 + Frame_Shift_Ins INS - GT GT TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr6:168376961_168376962insGT uc010kks.1 - 1 658_659 c.371_372insAC c.(370-372)ACTfs p.T124fs NM_001129895 NP_001123367 Q9UM08 Q9UM08_HUMAN hypothetical protein LOC100128124 124 0 TTACCCCTGCAGTGTGTTGGGA 0.634 4 2 --- --- --- --- SRCRB4D 136853 broad.mit.edu 37 7 76023195 76023195 + Frame_Shift_Del DEL G - - TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr7:76023195delG uc003ufb.2 - 8 1321 c.973delC c.(973-975)CGGfs p.R325fs SRCRB4D_uc003ufa.2_5'Flank NM_080744 NP_542782 Q8WTU2 SRB4D_HUMAN scavenger receptor cysteine rich domain 325 extracellular region|membrane scavenger receptor activity pancreas(1) 1 GCTGTCTCCCGGGAAGGCTGG 0.682 4 2 --- --- --- --- MAFA 389692 broad.mit.edu 37 8 144511954 144511956 + In_Frame_Del DEL TGG - - TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr8:144511954_144511956delTGG uc003yyc.1 - 1 621_623 c.621_623delCCA c.(619-624)CACCAT>CAT p.207_208HH>H NM_201589 NP_963883 Q8NHW3 MAFA_HUMAN v-maf musculoaponeurotic fibrosarcoma oncogene 207_208 His-rich. insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus nucleus protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237) CGCGCCGCCAtggtggtggtggt 0.581 HNSCC(29;0.082) 7 4 --- --- --- --- TLR4 7099 broad.mit.edu 37 9 120475852 120475852 + Frame_Shift_Del DEL T - - TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr9:120475852delT uc004bjz.2 + 3 1737 c.1446delT c.(1444-1446)TCTfs p.S482fs TLR4_uc004bka.2_Frame_Shift_Del_p.S442fs|TLR4_uc004bkb.2_Frame_Shift_Del_p.S282fs NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 482 LRR 15.|Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 CTGGCAATTCTTTCCAGGAAA 0.443 26 34 --- --- --- --- LOC387647 387647 broad.mit.edu 37 10 29710953 29710953 + RNA DEL G - - TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr10:29710953delG uc001ium.2 + 3 c.1720delG LOC387647_uc001iuo.1_Intron|LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|LOC387647_uc001iun.2_RNA Homo sapiens cDNA FLJ31518 fis, clone NT2RI2000064. 0 ACACCAAAGTGGGAGACATTC 0.542 4 2 --- --- --- --- PIP4K2C 79837 broad.mit.edu 37 12 57988919 57988919 + Frame_Shift_Del DEL C - - TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr12:57988919delC uc001sou.2 + 3 414 c.283delC c.(283-285)CCCfs p.P95fs PIP4K2C_uc001sot.2_Frame_Shift_Del_p.P95fs|PIP4K2C_uc010srs.1_Intron|PIP4K2C_uc010srt.1_Frame_Shift_Del_p.P95fs NM_001146258 NP_001139730 Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 95 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding central_nervous_system(2)|lung(1) 3 Melanoma(17;0.122) GGAAAATCTGCCCAGTCATTT 0.294 90 51 --- --- --- --- WHAMM 123720 broad.mit.edu 37 15 83486821 83486822 + Frame_Shift_Del DEL AG - - TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr15:83486821_83486822delAG uc002bje.2 + 4 1590_1591 c.1084_1085delAG c.(1084-1086)AGAfs p.R362fs NM_001080435 NP_001073904 Q8TF30 WHAMM_HUMAN WAS protein homolog associated with actin, golgi 362 cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus actin binding 0 AAATCACAAAAGAGCTGAAATT 0.317 5 5 --- --- --- --- ZNF99 7652 broad.mit.edu 37 19 22940929 22940929 + Frame_Shift_Del DEL T - - TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 7e6382c3-368a-43a5-9812-c58f54ceba3f 8a207aee-58f5-439c-8445-f42e9f27023f g.chr19:22940929delT uc010xrh.1 - 5 1509 c.1509delA c.(1507-1509)AAAfs p.K503fs 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) ATTCTTCACATTTGTAGGGTT 0.373 51 47 --- --- --- ---