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 ACAP3 116983 broad.mit.edu 37 1 1233244 1233244 + Silent SNP G A A rs144855997 TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr1:1233244G>A uc001aeb.2 - 14 1160 c.1086C>T c.(1084-1086)ATC>ATT p.I362I ACAP3_uc001ady.2_Silent_p.I92I|ACAP3_uc001aea.2_Silent_p.I320I NM_030649 NP_085152 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH 362 PH. filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding 0 AGGCGGAGGCGATGCTGGCCT 0.682 10 5 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34052159 34052159 + Silent SNP C G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr1:34052159C>G uc001bxn.1 - 47 7031 c.7002G>C c.(7000-7002)CTG>CTC p.L2334L CSMD2_uc001bxm.1_Silent_p.L2332L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2334 Sushi 13.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTTTGCAGGTCAGAATTTCAT 0.493 13 25 --- --- --- --- PASS EPHA10 284656 broad.mit.edu 37 1 38187350 38187350 + Nonsense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr1:38187350C>A uc009vvi.2 - 11 2214 c.2128G>T c.(2128-2130)GAG>TAG p.E710* EPHA10_uc001cbt.2_5'Flank|EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN EPH receptor A10 isofom 3 710 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity p.L710M(1) breast(4)|stomach(3)|lung(1) 8 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) ACAACGCCCTCCAGCCGCACG 0.652 8 10 --- --- --- --- PASS ZNF684 127396 broad.mit.edu 37 1 41006273 41006273 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr1:41006273C>A uc001cft.1 + 3 282 c.31C>A c.(31-33)CAG>AAG p.Q11K NM_152373 NP_689586 Q5T5D7 ZN684_HUMAN zinc finger protein 684 11 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.42e-18) AGTGACATTCCAGGATGTGGC 0.428 5 55 --- --- --- --- PASS EPS15 2060 broad.mit.edu 37 1 51871588 51871588 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr1:51871588G>T uc001csq.1 - 16 1758 c.1666C>A c.(1666-1668)CAG>AAG p.Q556K EPS15_uc009vyz.1_Intron|EPS15_uc001csp.3_Missense_Mutation_p.Q242K NM_001981 NP_001972 P42566 EPS15_HUMAN epidermal growth factor receptor pathway 556 cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding lung(1)|kidney(1) 2 GGAGATTCCTGGTGTATGGGC 0.423 T MLL ALL 5 69 --- --- --- --- PASS PARS2 25973 broad.mit.edu 37 1 55224198 55224198 + Missense_Mutation SNP C G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr1:55224198C>G uc001cxy.2 - 2 720 c.637G>C c.(637-639)GAC>CAC p.D213H NM_152268 NP_689481 Q7L3T8 SYPM_HUMAN prolyl-tRNA synthetase (mitochondrial)(putative) 213 prolyl-tRNA aminoacylation mitochondrial matrix ATP binding|proline-tRNA ligase activity ovary(2) 2 L-Proline(DB00172) GGGGAGGAGTCAAAGGTGTAC 0.557 21 28 --- --- --- --- PASS LEPROT 54741 broad.mit.edu 37 1 65895678 65895678 + Nonsense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr1:65895678G>T uc001dcf.2 + 3 315 c.226G>T c.(226-228)GGA>TGA p.G76* LEPR_uc001dcg.2_Intron|LEPR_uc001dch.2_Intron|LEPR_uc001dci.2_Intron|LEPR_uc009waq.2_Intron|LEPROT_uc009wap.2_Nonsense_Mutation_p.G85* NM_017526 NP_059996 O15243 OBRG_HUMAN leptin receptor gene-related protein 76 Helical; (Potential). endosome membrane|Golgi membrane|integral to plasma membrane 0 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) CTTCACTACTGGAATTGTTGT 0.448 6 147 --- --- --- --- PASS DPYD 1806 broad.mit.edu 37 1 97547958 97547958 + Silent SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr1:97547958C>A uc001drv.2 - 22 2972 c.2835G>T c.(2833-2835)GTG>GTT p.V945V NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 945 4Fe-4S ferredoxin-type 2. 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CAATCATAGCCACAACTTGCT 0.393 5 48 --- --- --- --- PASS SPAG17 200162 broad.mit.edu 37 1 118548056 118548056 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr1:118548056G>T uc001ehk.2 - 32 4825 c.4757C>A c.(4756-4758)CCT>CAT p.P1586H NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1586 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) GTTTCCCTCAGGATCCAGAAC 0.438 5 80 --- --- --- --- PASS SPAG17 200162 broad.mit.edu 37 1 118635898 118635898 + Missense_Mutation SNP T A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr1:118635898T>A uc001ehk.2 - 8 1122 c.1054A>T c.(1054-1056)ATG>TTG p.M352L NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 352 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) ATGTCATACATCAAGCAGGCA 0.373 10 13 --- --- --- --- PASS PPIAL4G 644591 broad.mit.edu 37 1 143767766 143767766 + Missense_Mutation SNP T A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr1:143767766T>A uc001ejt.2 - 1 116 c.83A>T c.(82-84)AAG>ATG p.K28M NM_001123068 NP_001116540 A2BFH1 PAL4G_HUMAN peptidylprolyl isomerase A (cyclophilin A)-like 28 PPIase cyclophilin-type. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity 0 CTTTGGAATCTTGTCTGCAAA 0.468 29 199 --- --- --- --- PASS ITGA10 8515 broad.mit.edu 37 1 145532206 145532206 + Missense_Mutation SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr1:145532206G>A uc001eoa.2 + 8 926 c.850G>A c.(850-852)GAG>AAG p.E284K NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.E153K|ITGA10_uc009wiw.2_Missense_Mutation_p.E141K|ITGA10_uc010oyw.1_Missense_Mutation_p.E229K NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 284 VWFA.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TGATGGAGAGGAGCTTCCTGC 0.567 12 49 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152281652 152281652 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr1:152281652G>T uc001ezu.1 - 3 5746 c.5710C>A c.(5710-5712)CAA>AAA p.Q1904K NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1904 Ser-rich.|Filaggrin 11. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTGATGATTGTCCCTGGCCC 0.587 Ichthyosis 51 174 --- --- --- --- PASS INSRR 3645 broad.mit.edu 37 1 156823678 156823678 + Missense_Mutation SNP A G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr1:156823678A>G uc010pht.1 - 2 757 c.503T>C c.(502-504)GTG>GCG p.V168A NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.V168A NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 168 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1) 20 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTTGTTGCCCACGATGTGGTT 0.642 5 20 --- --- --- --- PASS C1orf92 149499 broad.mit.edu 37 1 156899076 156899076 + Missense_Mutation SNP C T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr1:156899076C>T uc001fqm.2 + 10 1173 c.1001C>T c.(1000-1002)TCC>TTC p.S334F C1orf92_uc001fql.2_Missense_Mutation_p.S119F NM_144702 NP_653303 Q8N4P6 LRC71_HUMAN hypothetical protein LOC149499 334 0 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCACAGCCCTCCTCCTCTCGA 0.552 4 19 --- --- --- --- PASS ARHGAP30 257106 broad.mit.edu 37 1 161039355 161039355 + Silent SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr1:161039355G>A uc001fxl.2 - 1 406 c.60C>T c.(58-60)TGC>TGT p.C20C ARHGAP30_uc001fxk.2_Silent_p.C20C|ARHGAP30_uc001fxm.2_5'UTR|ARHGAP30_uc009wtx.2_5'UTR|ARHGAP30_uc001fxn.1_5'UTR NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 isoform 1 20 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|upper_aerodigestive_tract(1) 3 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) CCTGCAAGTCGCACCCAAAAA 0.637 22 43 --- --- --- --- PASS FAM5B 57795 broad.mit.edu 37 1 177199026 177199026 + Missense_Mutation SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr1:177199026G>A uc001glf.2 + 2 326 c.14G>A c.(13-15)TGT>TAT p.C5Y NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 5 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 AGGTGGCAGTGTGGCACTCGG 0.652 6 17 --- --- --- --- PASS TDRD5 163589 broad.mit.edu 37 1 179659920 179659920 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr1:179659920G>T uc001gnf.1 + 17 3038 c.2788G>T c.(2788-2790)GAC>TAC p.D930Y TDRD5_uc010pnp.1_Missense_Mutation_p.D984Y|TDRD5_uc001gnh.1_Missense_Mutation_p.D485Y NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 930 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 AGAATCTGTAGACCAGCTGTC 0.443 8 41 --- --- --- --- PASS CDC73 79577 broad.mit.edu 37 1 193121513 193121513 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr1:193121513C>A uc001gtb.2 + 10 1154 c.911C>A c.(910-912)ACG>AAG p.T304K NM_024529 NP_078805 Q6P1J9 CDC73_HUMAN parafibromin 304 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding parathyroid(46)|ovary(1)|breast(1)|pancreas(1) 49 TTCGTAGAAACGGAAGGCTTC 0.338 Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome 3 13 --- --- --- --- PASS PTPRC 5788 broad.mit.edu 37 1 198678943 198678943 + Silent SNP A C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr1:198678943A>C uc001gur.1 + 11 1335 c.1155A>C c.(1153-1155)ACA>ACC p.T385T PTPRC_uc001gus.1_Silent_p.T337T|PTPRC_uc001gut.1_Silent_p.T224T|PTPRC_uc009wzf.1_Silent_p.T273T|PTPRC_uc010ppg.1_Silent_p.T321T NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 385 Extracellular (Potential). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 TTATTAAAACAGATTTTGGGA 0.269 18 39 --- --- --- --- PASS ZNF281 23528 broad.mit.edu 37 1 200377463 200377463 + Silent SNP T C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr1:200377463T>C uc001gve.2 - 2 1478 c.1371A>G c.(1369-1371)GAA>GAG p.E457E ZNF281_uc001gvf.1_Silent_p.E457E|ZNF281_uc001gvg.1_Silent_p.E421E NM_012482 NP_036614 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 457 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1) 2 TCTTCTGCAGTTCATCTATTC 0.373 19 56 --- --- --- --- PASS KCNH1 3756 broad.mit.edu 37 1 210856671 210856671 + Silent SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr1:210856671C>A uc001hib.2 - 11 3092 c.2922G>T c.(2920-2922)TCG>TCT p.S974S KCNH1_uc001hic.2_Silent_p.S947S NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 974 Cytoplasmic (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) ACTGTGGCCTCGATATTTCAA 0.438 5 123 --- --- --- --- PASS OR2L2 26246 broad.mit.edu 37 1 248202064 248202064 + Silent SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr1:248202064C>A uc001idw.2 + 1 591 c.495C>A c.(493-495)ATC>ATA p.I165I OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 165 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CACTCTGTATCCCATATTGCA 0.433 33 65 --- --- --- --- PASS THUMPD2 80745 broad.mit.edu 37 2 39963957 39963957 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr2:39963957G>T uc002rru.2 - 10 1467 c.1430C>A c.(1429-1431)CCA>CAA p.P477Q THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Missense_Mutation_p.P368Q NM_025264 NP_079540 Q9BTF0 THUM2_HUMAN THUMP domain containing 2 477 methyltransferase activity skin(1) 1 all_hematologic(82;0.248) GCATTCCACTGGTACCAAGGA 0.438 5 72 --- --- --- --- PASS USP34 9736 broad.mit.edu 37 2 61441365 61441365 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr2:61441365G>T uc002sbe.2 - 68 8534 c.8512C>A c.(8512-8514)CAT>AAT p.H2838N NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 2838 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) TGATCATCATGGTCAGCAAGG 0.478 6 69 --- --- --- --- PASS REG1A 5967 broad.mit.edu 37 2 79350303 79350303 + Missense_Mutation SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr2:79350303G>A uc002snz.2 + 6 566 c.463G>A c.(463-465)GAA>AAA p.E155K REG1A_uc010ysd.1_Missense_Mutation_p.E155K NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 155 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 TGTGCCTTGTGAAGACAAGTT 0.413 6 51 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141291599 141291599 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr2:141291599C>A uc002tvj.1 - 47 8725 c.7753G>T c.(7753-7755)GAT>TAT p.D2585Y NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2585 Extracellular (Potential).|LDL-receptor class A 12. 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) CCTTTACAATCTAATTCATCA 0.418 TSP Lung(27;0.18) 8 33 --- --- --- --- PASS RBMS1 5937 broad.mit.edu 37 2 161141535 161141535 + Nonsense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr2:161141535G>T uc002ubo.2 - 8 1221 c.777C>A c.(775-777)TAC>TAA p.Y259* RBMS1_uc002ubj.2_Nonsense_Mutation_p.Y223*|RBMS1_uc002ubk.2_Nonsense_Mutation_p.Y223*|RBMS1_uc002ubl.2_Nonsense_Mutation_p.Y254*|RBMS1_uc002ubn.2_Nonsense_Mutation_p.Y256*|RBMS1_uc002ubi.3_Nonsense_Mutation_p.Y256*|RBMS1_uc002ubm.2_Nonsense_Mutation_p.Y226*|RBMS1_uc002ubp.2_Nonsense_Mutation_p.Y259*|RBMS1_uc010fox.2_Nonsense_Mutation_p.Y259* NM_016836 NP_058520 P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting 259 DNA replication|RNA processing nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding 0 TAGTTGGGTCGTAAGTAAGTG 0.318 26 29 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168108054 168108054 + Silent SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr2:168108054G>T uc002udx.2 + 8 10170 c.10152G>T c.(10150-10152)ACG>ACT p.T3384T XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.T3209T|XIRP2_uc010fpq.2_Silent_p.T3162T|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 3209 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TAGGAAACACGAGTTTTACAG 0.383 21 80 --- --- --- --- PASS ABCB11 8647 broad.mit.edu 37 2 169780238 169780238 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr2:169780238G>T uc002ueo.1 - 28 3986 c.3860C>A c.(3859-3861)GCT>GAT p.A1287D ABCB11_uc010zda.1_Missense_Mutation_p.A705D|ABCB11_uc010zdb.1_Missense_Mutation_p.A763D NM_003742 NP_003733 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 1287 Cytoplasmic (Potential).|ABC transporter 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism ovary(2)|large_intestine(2)|breast(1) 5 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) TGCCATGACAGCAATGATATC 0.532 10 61 --- --- --- --- PASS CDCA7 83879 broad.mit.edu 37 2 174230295 174230295 + Missense_Mutation SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr2:174230295G>A uc002uid.1 + 6 904 c.773G>A c.(772-774)CGA>CAA p.R258Q CDCA7_uc002uic.1_Missense_Mutation_p.R337Q|CDCA7_uc010zej.1_Missense_Mutation_p.R293Q|CDCA7_uc010zek.1_Missense_Mutation_p.R216Q NM_145810 NP_665809 Q9BWT1 CDCA7_HUMAN cell division cycle associated 7 isoform 2 258 Mediates transcriptional activity. regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.116) AGCAATTCTCGAGAGAAGATA 0.478 7 33 --- --- --- --- PASS TTC30A 92104 broad.mit.edu 37 2 178482680 178482680 + Silent SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr2:178482680C>A uc002ulo.2 - 1 1015 c.750G>T c.(748-750)CTG>CTT p.L250L NM_152275 NP_689488 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 250 cell projection organization cilium binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) AGGCTTCCACCAGAGCAGTCT 0.537 5 73 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179411391 179411391 + Missense_Mutation SNP A T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr2:179411391A>T uc010zfg.1 - 290 87284 c.87060T>A c.(87058-87060)AAT>AAA p.N29020K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N22715K|TTN_uc010zfi.1_Missense_Mutation_p.N22648K|TTN_uc010zfj.1_Missense_Mutation_p.N22523K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29947 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) CGCCTGCTGCATTCTTGGCTA 0.438 11 36 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179457260 179457260 + Silent SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr2:179457260G>A uc010zfg.1 - 250 51992 c.51768C>T c.(51766-51768)GAC>GAT p.D17256D uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.D10951D|TTN_uc010zfi.1_Silent_p.D10884D|TTN_uc010zfj.1_Silent_p.D10759D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 18183 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) GAGCATCTCTGTCTTCTTTTT 0.388 19 130 --- --- --- --- PASS HECW2 57520 broad.mit.edu 37 2 197090571 197090571 + Missense_Mutation SNP A T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr2:197090571A>T uc002utm.1 - 23 4124 c.3941T>A c.(3940-3942)CTT>CAT p.L1314H HECW2_uc002utl.1_Missense_Mutation_p.L958H NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 1314 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 TGCAAGACCAAGGATCCTACC 0.423 5 33 --- --- --- --- PASS NRP2 8828 broad.mit.edu 37 2 206562429 206562429 + Nonsense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr2:206562429G>T uc002vaw.2 + 2 1026 c.235G>T c.(235-237)GAG>TAG p.E79* NRP2_uc002vat.2_Nonsense_Mutation_p.E79*|NRP2_uc002vau.2_Nonsense_Mutation_p.E79*|NRP2_uc002vav.2_Nonsense_Mutation_p.E79*|NRP2_uc002vax.2_Nonsense_Mutation_p.E79*|NRP2_uc002vay.2_Nonsense_Mutation_p.E79*|NRP2_uc010fud.2_Nonsense_Mutation_p.E79* NM_201266 NP_957718 O60462 NRP2_HUMAN neuropilin 2 isoform 1 precursor 79 Extracellular (Potential).|CUB 1. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 CTTTGAAATCGAGAAGCACGA 0.552 9 289 --- --- --- --- PASS UNC80 285175 broad.mit.edu 37 2 210654270 210654270 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr2:210654270C>A uc010zjc.1 + 6 819 c.739C>A c.(739-741)CCT>ACT p.P247T UNC80_uc002vdj.1_Missense_Mutation_p.P247T NM_032504 NP_115893 Q8N2C7 UNC80_HUMAN chromosome 2 open reading frame 21 isoform 1 247 integral to membrane 0 GAGAAGTTCTCCTATCAACAG 0.343 20 99 --- --- --- --- PASS CCDC108 255101 broad.mit.edu 37 2 219869012 219869012 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr2:219869012C>A uc002vjl.1 - 33 5301 c.5217G>T c.(5215-5217)GAG>GAT p.E1739D uc010fvz.1_5'Flank|MIR375_hsa-mir-375|MI0000783_5'Flank NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 1739 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTTCCCATCCTCCCAGCTGC 0.413 19 61 --- --- --- --- PASS SPEG 10290 broad.mit.edu 37 2 220309423 220309423 + Missense_Mutation SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr2:220309423G>A uc010fwg.2 + 2 437 c.437G>A c.(436-438)CGC>CAC p.R146H SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 146 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GGAACCCAGCGCCTGGAGCTT 0.632 9 37 --- --- --- --- PASS COL4A4 1286 broad.mit.edu 37 2 227924170 227924170 + Silent SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr2:227924170C>A uc010zlt.1 - 28 2988 c.2334G>T c.(2332-2334)GTG>GTT p.V778V NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 778 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TTATCCCTGGCACTCCTGAAA 0.577 25 119 --- --- --- --- PASS ATG16L1 55054 broad.mit.edu 37 2 234202917 234202917 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr2:234202917C>A uc002vty.2 + 18 2002 c.1745C>A c.(1744-1746)GCG>GAG p.A582E ATG16L1_uc002vtx.1_Missense_Mutation_p.A419E|ATG16L1_uc002vua.2_Missense_Mutation_p.A563E|ATG16L1_uc002vub.2_Missense_Mutation_p.A440E|ATG16L1_uc002vtz.2_Missense_Mutation_p.A403E|ATG16L1_uc002vud.3_Missense_Mutation_p.A498E NM_030803 NP_110430 Q676U5 A16L1_HUMAN APG16 autophagy 16-like isoform 1 582 WD 7. autophagic vacuole assembly|protein homooligomerization|protein transport autophagic vacuole|pre-autophagosomal structure membrane protein binding 0 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539) Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11) TCCATCAATGCGGTGGCGTGG 0.522 10 43 --- --- --- --- PASS UGT1A9 54600 broad.mit.edu 37 2 234580705 234580705 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr2:234580705G>T uc002vus.2 + 1 162 c.125G>T c.(124-126)AGG>ATG p.R42M UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Missense_Mutation_p.R42M NM_021027 NP_066307 O60656 UD19_HUMAN UDP glycosyltransferase 1 family, polypeptide A9 42 drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding ovary(3)|breast(1)|skin(1) 5 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398) TTCACCATGAGGTCGGTGGTG 0.552 14 38 --- --- --- --- PASS HRH1 3269 broad.mit.edu 37 3 11301422 11301422 + Silent SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr3:11301422C>A uc010hdr.2 + 2 1041 c.699C>A c.(697-699)TCC>TCA p.S233S HRH1_uc010hds.2_Silent_p.S233S|HRH1_uc010hdt.2_Silent_p.S233S|HRH1_uc003bwb.3_Silent_p.S233S NM_001098213 NP_001091683 P35367 HRH1_HUMAN histamine receptor H1 233 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity large_intestine(1)|ovary(1) 2 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) CCCTCCCTTCCTTCTCAGAAA 0.537 5 74 --- --- --- --- PASS TIMP4 7079 broad.mit.edu 37 3 12195893 12195893 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr3:12195893C>A uc003bwo.2 - 4 718 c.411G>T c.(409-411)TGG>TGT p.W137C SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.2_Intron|SYN2_uc003bwn.2_Intron NM_003256 NP_003247 Q99727 TIMP4_HUMAN tissue inhibitor of metalloproteinase 4 137 NTR. metal ion binding|metalloendopeptidase inhibitor activity 0 ACAGGTCCTCCCAGGGCTCGA 0.493 39 46 --- --- --- --- PASS NEK10 152110 broad.mit.edu 37 3 27332856 27332856 + Missense_Mutation SNP T A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr3:27332856T>A uc003cdt.1 - 19 1776 c.1502A>T c.(1501-1503)GAA>GTA p.E501V NEK10_uc003cds.1_5'UTR NM_199347 NP_955379 Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 isoform 3 501 Potential. ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 TTCAATATTTTCAGCAATTTG 0.343 18 25 --- --- --- --- PASS GOLGA4 2803 broad.mit.edu 37 3 37292888 37292888 + Silent SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr3:37292888G>T uc003cgv.2 + 2 379 c.75G>T c.(73-75)GCG>GCT p.A25A GOLGA4_uc010hgr.1_Silent_p.A25A|GOLGA4_uc003cgw.2_Silent_p.A25A|GOLGA4_uc010hgs.2_Silent_p.A25A|GOLGA4_uc003cgu.1_Silent_p.A25A NM_002078 NP_002069 Q13439 GOGA4_HUMAN golgi autoantigen, golgin subfamily a, 4 25 Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 AAATCTAGGCGTCCTCCAATT 0.388 15 19 --- --- --- --- PASS SMARCC1 6599 broad.mit.edu 37 3 47734751 47734751 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr3:47734751C>A uc003crq.2 - 12 1323 c.1205G>T c.(1204-1206)GGA>GTA p.G402V SMARCC1_uc011bbd.1_Missense_Mutation_p.G293V NM_003074 NP_003065 Q92922 SMRC1_HUMAN SWI/SNF-related matrix-associated 402 chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity skin(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) TACAGTTCCTCCTTTAACAGG 0.333 5 59 --- --- --- --- PASS RBM5 10181 broad.mit.edu 37 3 50151525 50151525 + Missense_Mutation SNP A G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr3:50151525A>G uc003cyg.2 + 19 1908 c.1760A>G c.(1759-1761)GAG>GGG p.E587G RBM5_uc011bdj.1_Missense_Mutation_p.E531G|RBM5_uc011bdk.1_Missense_Mutation_p.E415G|RBM5_uc003cyh.2_Missense_Mutation_p.E44G NM_005778 NP_005769 P52756 RBM5_HUMAN RNA binding motif protein 5 587 Required for interaction with U2AF2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GCTCTCTTTGAGAAGAAGGTA 0.448 5 52 --- --- --- --- PASS WNT5A 7474 broad.mit.edu 37 3 55513523 55513523 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr3:55513523G>T uc003dhn.2 - 3 528 c.210C>A c.(208-210)AGC>AGA p.S70R WNT5A_uc003dhm.2_Missense_Mutation_p.S55R|WNT5A_uc010hmw.2_Missense_Mutation_p.S55R|WNT5A_uc010hmx.2_Intron NM_003392 NP_003383 P41221 WNT5A_HUMAN wingless-type MMTV integration site family, 70 activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204) CTGCCAGTTGGCTGCAGAGAG 0.478 17 106 --- --- --- --- PASS FLNB 2317 broad.mit.edu 37 3 58127599 58127599 + Missense_Mutation SNP A C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr3:58127599A>C uc003djj.2 + 30 5289 c.5124A>C c.(5122-5124)GAA>GAC p.E1708D FLNB_uc010hne.2_Missense_Mutation_p.E1739D|FLNB_uc003djk.2_Missense_Mutation_p.E1708D|FLNB_uc010hnf.2_Intron|FLNB_uc003djl.2_Missense_Mutation_p.E1539D|FLNB_uc003djm.2_Intron NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 1708 Hinge 1 (By similarity). actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CAGATGGGGAAGTCACAGCCG 0.507 24 33 --- --- --- --- PASS PDZRN3 23024 broad.mit.edu 37 3 73433190 73433190 + Missense_Mutation SNP T C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr3:73433190T>C uc003dpl.1 - 10 2623 c.2527A>G c.(2527-2529)AGC>GGC p.S843G PDZRN3_uc011bgh.1_Missense_Mutation_p.S500G|PDZRN3_uc010hoe.1_Missense_Mutation_p.S541G|PDZRN3_uc011bgf.1_Missense_Mutation_p.S560G|PDZRN3_uc011bgg.1_Missense_Mutation_p.S563G NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 843 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CTCCCGTCGCTGGCTCTCCGC 0.657 11 20 --- --- --- --- PASS NSUN3 63899 broad.mit.edu 37 3 93813893 93813893 + Missense_Mutation SNP C T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr3:93813893C>T uc003drl.1 + 5 754 c.638C>T c.(637-639)CCG>CTG p.P213L NM_022072 NP_071355 Q9H649 NSUN3_HUMAN NOL1/NOP2/Sun domain family, member 3 213 methyltransferase activity skin(1) 1 GTGGATGCTCCGTGTTCAAAT 0.408 12 34 --- --- --- --- PASS OR5H15 403274 broad.mit.edu 37 3 97887996 97887996 + Silent SNP T G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr3:97887996T>G uc011bgu.1 + 1 453 c.453T>G c.(451-453)GCT>GCG p.A151A NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, 151 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CATATATAGCTGGTATTCTTC 0.373 23 22 --- --- --- --- PASS ALCAM 214 broad.mit.edu 37 3 105250889 105250889 + Silent SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr3:105250889C>A uc003dvx.2 + 4 978 c.438C>A c.(436-438)CTC>CTA p.L146L ALCAM_uc003dvw.1_Silent_p.L146L|ALCAM_uc003dvy.2_Silent_p.L146L|ALCAM_uc011bhh.1_Silent_p.L95L|ALCAM_uc010hpp.2_5'Flank NM_001627 NP_001618 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 146 Extracellular (Potential).|Ig-like V-type 2. cell adhesion|signal transduction integral to membrane receptor binding ovary(2)|breast(1) 3 CACTGTTTCTCGAAACAGAGC 0.348 6 128 --- --- --- --- PASS LRRC58 116064 broad.mit.edu 37 3 120054684 120054684 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr3:120054684G>T uc003edr.2 - 2 713 c.617C>A c.(616-618)CCT>CAT p.P206H NM_001099678 NP_001093148 Q96CX6 LRC58_HUMAN leucine rich repeat containing 58 206 LRR 7. 0 GBM - Glioblastoma multiforme(114;0.147) TGAAAGTTGAGGAGGTATGCT 0.343 6 72 --- --- --- --- PASS SLC15A2 6565 broad.mit.edu 37 3 121649761 121649761 + Missense_Mutation SNP A G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr3:121649761A>G uc003eep.2 + 18 1781 c.1628A>G c.(1627-1629)TAT>TGT p.Y543C SLC15A2_uc011bjn.1_Missense_Mutation_p.Y512C NM_021082 NP_066568 Q16348 S15A2_HUMAN peptide transporter 2 isoform a 543 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) GGTGAAGACTATGGTGTGTCT 0.368 16 41 --- --- --- --- PASS PARP15 165631 broad.mit.edu 37 3 122353965 122353965 + Silent SNP C G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr3:122353965C>G uc003efm.2 + 11 1737 c.1671C>G c.(1669-1671)CTC>CTG p.L557L PARP15_uc003efn.2_Silent_p.L362L|PARP15_uc003efo.1_Silent_p.L304L|PARP15_uc003efp.1_Silent_p.L323L|PARP15_uc011bjt.1_Silent_p.L254L NM_001113523 NP_001106995 Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 535 PARP catalytic. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity lung(3)|upper_aerodigestive_tract(1)|ovary(1) 5 GBM - Glioblastoma multiforme(114;0.0531) AGAGACTCCTCTTCCATGGGA 0.418 24 37 --- --- --- --- PASS C3orf58 205428 broad.mit.edu 37 3 143708453 143708453 + Missense_Mutation SNP A G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr3:143708453A>G uc003evo.2 + 3 1598 c.1063A>G c.(1063-1065)ACT>GCT p.T355A C3orf58_uc011bnl.1_Missense_Mutation_p.T146A NM_173552 NP_775823 Q8NDZ4 CC058_HUMAN hypothetical protein LOC205428 isoform a 355 COPI vesicle coat|extracellular region ovary(1) 1 TGCTCGTGCCACTGTGGACCA 0.433 11 57 --- --- --- --- PASS GPR171 29909 broad.mit.edu 37 3 150916412 150916412 + Missense_Mutation SNP T C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr3:150916412T>C uc003eyq.3 - 3 1002 c.762A>G c.(760-762)ATA>ATG p.I254M MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron NM_013308 NP_037440 O14626 GP171_HUMAN G protein-coupled receptor 171 254 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled 0 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGCAATCAGTTATGACTTCTG 0.463 16 51 --- --- --- --- PASS SCHIP1 29970 broad.mit.edu 37 3 159606697 159606697 + Missense_Mutation SNP A T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr3:159606697A>T uc003fcs.1 + 6 1349 c.1283A>T c.(1282-1284)CAA>CTA p.Q428L SCHIP1_uc003fcq.1_Missense_Mutation_p.Q504L|SCHIP1_uc003fcr.1_Missense_Mutation_p.Q417L|SCHIP1_uc003fct.1_Missense_Mutation_p.Q415L|SCHIP1_uc010hvz.1_Missense_Mutation_p.Q388L|SCHIP1_uc003fcu.1_Missense_Mutation_p.Q185L|SCHIP1_uc003fcv.1_Missense_Mutation_p.Q201L NM_014575 NP_055390 Q9P0W5 SCHI1_HUMAN schwannomin interacting protein 1 428 Potential. cytoplasm identical protein binding|protein binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534) GGGCAGCTACAAGTGATAGTC 0.378 6 58 --- --- --- --- PASS BDH1 622 broad.mit.edu 37 3 197238877 197238877 + Silent SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr3:197238877G>A uc003fxr.2 - 8 1323 c.921C>T c.(919-921)ACC>ACT p.T307T BDH1_uc003fxs.2_Silent_p.T307T|BDH1_uc003fxt.2_Silent_p.T220T|BDH1_uc003fxu.2_Silent_p.T307T NM_203314 NP_976059 Q02338 BDH_HUMAN 3-hydroxybutyrate dehydrogenase, type 1 307 cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix 3-hydroxybutyrate dehydrogenase activity ovary(1) 1 all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437) Lung NSC(153;0.118) Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06) GBM - Glioblastoma multiforme(93;0.0977) NADH(DB00157) GGGTGGTGGCGGTCAGGGCGT 0.562 15 69 --- --- --- --- PASS TAPT1 202018 broad.mit.edu 37 4 16189952 16189952 + Silent SNP A G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr4:16189952A>G uc010ied.1 - 5 720 c.639T>C c.(637-639)TTT>TTC p.F213F TAPT1_uc011bxd.1_RNA|TAPT1_uc011bxe.1_Silent_p.F102F NM_153365 NP_699196 Q6NXT6 TAPT1_HUMAN transmembrane anterior posterior transformation 213 integral to membrane growth hormone-releasing hormone receptor activity 0 TGTCTTGTCCAAAAGATGAAA 0.323 9 17 --- --- --- --- PASS MED28 80306 broad.mit.edu 37 4 17623209 17623209 + Splice_Site SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr4:17623209G>T uc003gpi.1 + 3 239 c.227_splice c.e3-1 p.G76_splice MED28_uc003gpj.2_Splice_Site NM_025205 NP_079481 Q9H204 MED28_HUMAN mediator complex subunit 28 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|membrane|nucleus actin binding 0 TTTTTTTTAAGGTGTTGATCA 0.313 6 17 --- --- --- --- PASS TBC1D1 23216 broad.mit.edu 37 4 38138765 38138765 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr4:38138765G>T uc003gtb.2 + 20 3659 c.3316G>T c.(3316-3318)GGT>TGT p.G1106C TBC1D1_uc011byd.1_Missense_Mutation_p.G1097C|TBC1D1_uc010ifd.2_Missense_Mutation_p.G893C|TBC1D1_uc003gtd.2_Missense_Mutation_p.G118C NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 1106 nucleus Rab GTPase activator activity ovary(1) 1 GGTGGCAAATGGTAGGATCCA 0.527 6 181 --- --- --- --- PASS PHOX2B 8929 broad.mit.edu 37 4 41750460 41750460 + Silent SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr4:41750460G>T uc003gwf.3 - 1 528 c.168C>A c.(166-168)GGC>GGA p.G56G NM_003924 NP_003915 Q99453 PHX2B_HUMAN paired-like homeobox 2b 56 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1) 12 GGGAAGGGCAGCCGGACGTGG 0.622 Mis|F neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 6 44 --- --- --- --- PASS GABRA2 2555 broad.mit.edu 37 4 46305516 46305516 + Missense_Mutation SNP A G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr4:46305516A>G uc003gxc.3 - 7 1490 c.817T>C c.(817-819)TGG>CGG p.W273R GABRA2_uc010igc.2_Missense_Mutation_p.W273R|GABRA2_uc011bzc.1_Missense_Mutation_p.W218R|GABRA2_uc003gxe.2_Missense_Mutation_p.W273R NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 273 Helical; (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTGTTAAGCCAGAATGAAACT 0.299 30 47 --- --- --- --- PASS FIP1L1 81608 broad.mit.edu 37 4 54319142 54319142 + Silent SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr4:54319142C>A uc003gzy.2 + 16 1527 c.1341C>A c.(1339-1341)ACC>ACA p.T447T PDGFRA_uc003haa.2_Intron|FIP1L1_uc011bzu.1_Silent_p.T441T|FIP1L1_uc003gzz.2_Silent_p.T373T|FIP1L1_uc003hab.2_Silent_p.T412T|FIP1L1_uc003hac.2_Silent_p.T201T|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_Missense_Mutation_p.P32Q|FIP1L1_uc003hae.2_Missense_Mutation_p.P32Q NM_030917 NP_112179 Q6UN15 FIP1_HUMAN FIP1 like 1 isoform 1 447 Sufficient for interaction with CPSF1 and CSTF3. mRNA processing nucleus RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) TTGTGGACACCAGCAAGCAGT 0.279 T PDGFRA idiopathic hypereosinophilic syndrome 5 94 --- --- --- --- PASS LPHN3 23284 broad.mit.edu 37 4 62453133 62453133 + Missense_Mutation SNP G C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr4:62453133G>C uc010ihh.2 + 2 417 c.244G>C c.(244-246)GAT>CAT p.D82H LPHN3_uc003hcq.3_Missense_Mutation_p.D82H|LPHN3_uc010ihg.1_Missense_Mutation_p.D150H NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 82 SUEL-type lectin.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 TTATCTGCCAGATGCCTATAA 0.373 8 11 --- --- --- --- PASS LPHN3 23284 broad.mit.edu 37 4 62845347 62845347 + Missense_Mutation SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr4:62845347G>A uc010ihh.2 + 15 2841 c.2668G>A c.(2668-2670)GTT>ATT p.V890I LPHN3_uc003hcq.3_Missense_Mutation_p.V890I|LPHN3_uc003hct.2_Missense_Mutation_p.V283I NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 877 Helical; Name=1; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 GCTGTCCCTTGTTTGTCTCCT 0.478 45 147 --- --- --- --- PASS PPM1K 152926 broad.mit.edu 37 4 89189398 89189398 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr4:89189398C>A uc003hrm.3 - 5 1186 c.796G>T c.(796-798)GAT>TAT p.D266Y NM_152542 NP_689755 Q8N3J5 PPM1K_HUMAN protein phosphatase 1K (PP2C domain containing) 266 PP2C-like. protein dephosphorylation mitochondrial matrix|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000192) AGGTCCAAATCTCCAATACTT 0.428 16 63 --- --- --- --- PASS MIR302D 442896 broad.mit.edu 37 4 113569220 113569220 + RNA SNP A G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr4:113569220A>G hsa-mir-302d|MI0000774 - c.8A>G LARP7_uc003iay.2_Intron|LARP7_uc003iaz.2_Intron|LARP7_uc003iba.2_Intron|LARP7_uc003ibb.2_Intron|uc011cfy.1_5'Flank|MIR367_hsa-mir-367|MI0000775_5'Flank 0 TCCATGTTAAAGTAGAGGGGG 0.358 10 20 --- --- --- --- PASS QRFPR 84109 broad.mit.edu 37 4 122254088 122254088 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr4:122254088C>A uc010inj.1 - 4 1064 c.685G>T c.(685-687)GTG>TTG p.V229L QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Splice_Site_p.M228_splice NM_198179 NP_937822 Q96P65 QRFPR_HUMAN G protein-coupled receptor 103 229 Helical; Name=5; (Potential). VILFLLPLMVMLILYSKIGYELWIKKRVGDGSVLRTIHGKE MSKIAR -> SSSSSCLLW (in Ref. 1; AAL26488). plasma membrane neuropeptide Y receptor activity 0 ATAAGCATCACCATAAGAGGC 0.428 13 38 --- --- --- --- PASS FBXW7 55294 broad.mit.edu 37 4 153249410 153249410 + Silent SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr4:153249410G>T uc003ims.2 - 9 1517 c.1368C>A c.(1366-1368)ACC>ACA p.T456T FBXW7_uc011cii.1_Silent_p.T456T|FBXW7_uc003imt.2_Silent_p.T456T|FBXW7_uc011cih.1_Silent_p.T280T|FBXW7_uc003imq.2_Silent_p.T376T|FBXW7_uc003imr.2_Silent_p.T338T NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 456 WD 2. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) GCCCATATAAGGTGTGTATAC 0.408 Mis|N|D|F colorectal|endometrial|T-ALL 5 73 --- --- --- --- PASS PDGFC 56034 broad.mit.edu 37 4 157693940 157693940 + Missense_Mutation SNP G C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr4:157693940G>C uc003iph.1 - 4 1092 c.601C>G c.(601-603)CGA>GGA p.R201G PDGFC_uc003ipi.1_Missense_Mutation_p.R38G|PDGFC_uc011cis.1_Missense_Mutation_p.R38G|PDGFC_uc011cir.1_Missense_Mutation_p.R45G NM_016205 NP_057289 Q9NRA1 PDGFC_HUMAN platelet-derived growth factor C precursor 201 central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity ovary(1)|lung(1)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212) TCAAGATATCGAATAAGGTCT 0.438 4 17 --- --- --- --- PASS FAM198B 51313 broad.mit.edu 37 4 159092200 159092200 + Missense_Mutation SNP T C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr4:159092200T>C uc003ipp.3 - 2 780 c.328A>G c.(328-330)ACC>GCC p.T110A uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.T110A|FAM198B_uc003ipr.3_Missense_Mutation_p.T110A|FAM198B_uc003ips.2_Missense_Mutation_p.T110A|uc003ipt.1_RNA NM_016613 NP_057697 Q6UWH4 F198B_HUMAN hypothetical protein LOC51313 isoform 2 110 Extracellular (Potential). Golgi membrane|integral to membrane 0 GAGCGTAGGGTAATGTACACC 0.622 5 51 --- --- --- --- PASS ADAM29 11086 broad.mit.edu 37 4 175897024 175897024 + Silent SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr4:175897024C>A uc003iuc.2 + 5 1018 c.348C>A c.(346-348)CTC>CTA p.L116L ADAM29_uc003iud.2_Silent_p.L116L|ADAM29_uc010irr.2_Silent_p.L116L|ADAM29_uc011cki.1_Silent_p.L116L NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 116 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TGGTTTCCCTCAGTACCTGTT 0.438 6 31 --- --- --- --- PASS ODZ3 55714 broad.mit.edu 37 4 183676047 183676047 + Silent SNP C T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr4:183676047C>T uc003ivd.1 + 21 4564 c.4527C>T c.(4525-4527)AAC>AAT p.N1509N ODZ3_uc003ive.1_Silent_p.N922N NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1509 Extracellular (Potential). 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) ACTCTATGAACTTCTATGAAG 0.413 11 49 --- --- --- --- PASS MRPL36 64979 broad.mit.edu 37 5 1799040 1799040 + Missense_Mutation SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr5:1799040G>A uc003jcx.3 - 2 73 c.10C>T c.(10-12)CTT>TTT p.L4F NDUFS6_uc003jcy.2_5'Flank NM_032479 NP_115868 Q9P0J6 RM36_HUMAN mitochondrial ribosomal protein L36 precursor 4 translation mitochondrial large ribosomal subunit structural constituent of ribosome 0 GBM - Glioblastoma multiforme(108;0.241) CTTATAAAAAGATTTGCCATG 0.448 5 91 --- --- --- --- PASS ADCY2 108 broad.mit.edu 37 5 7789771 7789771 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr5:7789771G>T uc003jdz.1 + 20 2553 c.2486G>T c.(2485-2487)AGG>ATG p.R829M ADCY2_uc011cmo.1_Missense_Mutation_p.R649M|ADCY2_uc010itm.1_Missense_Mutation_p.R25M NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 829 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 TATTACTGTAGGTTAGACTTC 0.438 6 137 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24593512 24593512 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr5:24593512G>T uc003jgr.1 - 2 420 c.88C>A c.(88-90)CCT>ACT p.P30T CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 30 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) TGTGGCACAGGCGTCCTTCTG 0.398 HNSCC(23;0.051) 26 41 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26915806 26915806 + Missense_Mutation SNP A C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr5:26915806A>C uc003jgs.1 - 3 624 c.455T>G c.(454-456)ATC>AGC p.I152S CDH9_uc010iug.2_Missense_Mutation_p.I152S NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 152 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 ATTGTCATTGATATCATGTAT 0.378 16 50 --- --- --- --- PASS LMBRD2 92255 broad.mit.edu 37 5 36137453 36137453 + Missense_Mutation SNP G C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr5:36137453G>C uc003jkb.1 - 5 874 c.459C>G c.(457-459)ATC>ATG p.I153M NM_001007527 NP_001007528 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 153 Helical; (Potential). integral to membrane 0 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGCCATAGTAGATTGCATTCT 0.348 3 29 --- --- --- --- PASS C5orf42 65250 broad.mit.edu 37 5 37120354 37120354 + Missense_Mutation SNP A C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr5:37120354A>C uc011cpa.1 - 49 9343 c.9112T>G c.(9112-9114)TCT>GCT p.S3038A C5orf42_uc003jko.1_Missense_Mutation_p.S69A|C5orf42_uc003jkp.1_RNA|C5orf42_uc011coy.1_Missense_Mutation_p.S1556A|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.S2131A NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 3038 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TGCCCAAAAGACTTCCTCTTA 0.368 10 46 --- --- --- --- PASS C6 729 broad.mit.edu 37 5 41142975 41142975 + Nonsense_Mutation SNP A T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr5:41142975A>T uc003jmk.2 - 18 2967 c.2757T>A c.(2755-2757)TGT>TGA p.C919* C6_uc003jml.1_Nonsense_Mutation_p.C919* NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 919 Complement control factor I module 2.|C5b-binding domain.|Kazal-like 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TCCTGTTTGCACATCTTATAG 0.433 20 116 --- --- --- --- PASS CDC20B 166979 broad.mit.edu 37 5 54442562 54442562 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr5:54442562C>A uc003jpo.1 - 3 424 c.249G>T c.(247-249)AGG>AGT p.R83S CDC20B_uc003jpn.1_Missense_Mutation_p.R83S|CDC20B_uc010ivu.1_Missense_Mutation_p.R83S|CDC20B_uc010ivv.1_Missense_Mutation_p.R83S|CDC20B_uc003jpp.2_RNA NM_152623 NP_689836 Q86Y33 CD20B_HUMAN CDC20 cell division cycle 20 homolog B isoform 83 0 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) AGGACAGAGCCCTAGTTTGAC 0.522 OREG0016610 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 54 --- --- --- --- PASS DEPDC1B 55789 broad.mit.edu 37 5 59982955 59982955 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr5:59982955C>A uc003jsh.2 - 2 221 c.148G>T c.(148-150)GTG>TTG p.V50L DEPDC1B_uc011cqm.1_Missense_Mutation_p.V50L|DEPDC1B_uc011cqn.1_Missense_Mutation_p.V23L NM_018369 NP_060839 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B isoform 1 50 DEP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1) 1 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) AGCCAATCCACAGCTTCGGCC 0.498 18 17 --- --- --- --- PASS KIF2A 3796 broad.mit.edu 37 5 61643888 61643888 + Missense_Mutation SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr5:61643888G>A uc003jsy.3 + 3 484 c.173G>A c.(172-174)AGC>AAC p.S58N KIF2A_uc003jsz.3_Missense_Mutation_p.S58N|KIF2A_uc010iwp.2_Missense_Mutation_p.S58N|KIF2A_uc003jsx.3_Missense_Mutation_p.S38N|KIF2A_uc010iwq.2_5'UTR NM_004520 NP_004511 O00139 KIF2A_HUMAN kinesin heavy chain member 2 isoform 1 58 Globular (Potential). blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development centrosome|cytosol|microtubule|spindle pole ATP binding|microtubule motor activity|protein binding 0 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) GACCTGGAGAGCATCTTTTCA 0.363 45 82 --- --- --- --- PASS BDP1 55814 broad.mit.edu 37 5 70798568 70798568 + Missense_Mutation SNP A G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr5:70798568A>G uc003kbp.1 + 15 2454 c.2191A>G c.(2191-2193)ATT>GTT p.I731V BDP1_uc003kbn.1_Missense_Mutation_p.I731V|BDP1_uc003kbo.2_Missense_Mutation_p.I731V NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 731 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) ACAGGAAGAAATTGGGGCCAA 0.418 19 31 --- --- --- --- PASS AGGF1 55109 broad.mit.edu 37 5 76331382 76331382 + Silent SNP G T T rs146897885 by1000genomes TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr5:76331382G>T uc003ket.2 + 3 690 c.330G>T c.(328-330)ACG>ACT p.T110T AGGF1_uc003kes.2_Silent_p.T110T|AGGF1_uc003keu.1_RNA NM_018046 NP_060516 Q8N302 AGGF1_HUMAN angiogenic factor VG5Q 110 angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) TTTATCAGACGTACTACAATG 0.294 3 15 --- --- --- --- PASS ARSB 411 broad.mit.edu 37 5 78181566 78181566 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr5:78181566C>A uc003kfq.2 - 5 2269 c.983G>T c.(982-984)GGG>GTG p.G328V ARSB_uc003kfr.3_Missense_Mutation_p.G328V NM_000046 NP_000037 P15848 ARSB_HUMAN arylsulfatase B isoform 1 precursor 328 lysosomal transport|lysosome organization lysosome arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity upper_aerodigestive_tract(1) 1 all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34) AAAGCCCACCCCTCGGACGCC 0.577 35 63 --- --- --- --- PASS STARD4 134429 broad.mit.edu 37 5 110843086 110843086 + Missense_Mutation SNP T C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr5:110843086T>C uc003kph.1 - 2 130 c.46A>G c.(46-48)AAC>GAC p.N16D STARD4_uc010jbw.1_5'UTR|STARD4_uc010jbx.1_Intron|STARD4_uc003kpi.1_RNA|STARD4_uc003kpj.2_Missense_Mutation_p.N16D NM_139164 NP_631903 Q96DR4 STAR4_HUMAN StAR-related lipid transfer (START) domain 16 START. lipid transport lipid binding ovary(1) 1 all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248) OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138) ATGAGAGTGTTTTTAAGTTTA 0.368 15 22 --- --- --- --- PASS PCDHGA11 56105 broad.mit.edu 37 5 140802848 140802848 + Missense_Mutation SNP C G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr5:140802848C>G uc003lkq.1 + 1 2312 c.2054C>G c.(2053-2055)TCT>TGT p.S685C PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.S685C|PCDHGA11_uc003lkp.1_Intron NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 685 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGCTAACTCTGAAACCTCA 0.637 19 39 --- --- --- --- PASS PCDHGA11 56105 broad.mit.edu 37 5 140802857 140802857 + Nonsense_Mutation SNP C G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr5:140802857C>G uc003lkq.1 + 1 2321 c.2063C>G c.(2062-2064)TCA>TGA p.S688* PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Nonsense_Mutation_p.S688*|PCDHGA11_uc003lkp.1_Intron|PCDHGB8P_uc011daz.1_5'Flank NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 688 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTGAAACCTCAGACCTCTCG 0.632 19 43 --- --- --- --- PASS GABRG2 2566 broad.mit.edu 37 5 161580278 161580278 + Missense_Mutation SNP C G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr5:161580278C>G uc003lyz.3 + 9 1666 c.1308C>G c.(1306-1308)ATC>ATG p.I436M GABRG2_uc010jjc.2_Missense_Mutation_p.I484M|GABRG2_uc003lyy.3_Missense_Mutation_p.I444M|GABRG2_uc011dej.1_Missense_Mutation_p.I341M NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 436 Cytoplasmic (Probable).|Interaction with GABARAP (Potential). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) GGATACATATCCGCATTGCCA 0.493 36 48 --- --- --- --- PASS RANBP17 64901 broad.mit.edu 37 5 170380642 170380642 + Nonsense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr5:170380642G>T uc003mba.2 + 13 1526 c.1510G>T c.(1510-1512)GGA>TGA p.G504* RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 504 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GACAGTTGTAGGAGGAAGATT 0.353 T TRD@ ALL 11 20 --- --- --- --- PASS RANBP17 64901 broad.mit.edu 37 5 170380643 170380643 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr5:170380643G>T uc003mba.2 + 13 1527 c.1511G>T c.(1510-1512)GGA>GTA p.G504V RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 504 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ACAGTTGTAGGAGGAAGATTA 0.353 T TRD@ ALL 11 20 --- --- --- --- PASS F12 2161 broad.mit.edu 37 5 176833016 176833016 + Silent SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr5:176833016G>A uc003mgo.3 - 3 211 c.162C>T c.(160-162)CAC>CAT p.H54H F12_uc011dfy.1_5'Flank|F12_uc003mgn.3_5'Flank|F12_uc010jkl.2_RNA NM_000505 NP_000496 P00748 FA12_HUMAN coagulation factor XII precursor 54 Fibronectin type-II. Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation extracellular space|plasma membrane serine-type endopeptidase activity 0 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) 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) ACAGCTGCCGGTGGTACTGGA 0.602 Hereditary_Angioedema 17 42 --- --- --- --- PASS TMEM170B 100113407 broad.mit.edu 37 6 11566033 11566033 + Missense_Mutation SNP G C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr6:11566033G>C uc010jpa.2 + 2 232 c.232G>C c.(232-234)GGA>CGA p.G78R NM_001100829 NP_001094299 Q5T4T1 T170B_HUMAN transmembrane protein 170B 78 Helical; (Potential). integral to membrane 0 AGTCAGCATTGGATTTCTGGC 0.438 19 87 --- --- --- --- PASS HIST1H2AA 221613 broad.mit.edu 37 6 25726578 25726578 + Missense_Mutation SNP T C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr6:25726578T>C uc003nfc.2 - 1 213 c.178A>G c.(178-180)ACA>GCA p.T60A HIST1H2BA_uc003nfd.2_5'Flank NM_170745 NP_734466 Q96QV6 H2A1A_HUMAN histone cluster 1, H2aa 60 nucleosome assembly nucleosome|nucleus DNA binding 0 ATTTCTGCTGTGAGATACTCT 0.537 28 24 --- --- --- --- PASS OR2J3 442186 broad.mit.edu 37 6 29080440 29080440 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr6:29080440C>A uc011dll.1 + 1 773 c.773C>A c.(772-774)GCC>GAC p.A258D NM_001005216 NP_001005216 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, 258 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTCATTCCGGCCATGTGCATG 0.453 26 42 --- --- --- --- PASS TRIM39 56658 broad.mit.edu 37 6 30310025 30310025 + Missense_Mutation SNP G C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr6:30310025G>C uc010jrz.2 + 9 1858 c.1546G>C c.(1546-1548)GAT>CAT p.D516H TRIM39_uc003npz.2_Missense_Mutation_p.D486H|TRIM39_uc003nqb.2_Missense_Mutation_p.D486H|TRIM39_uc003nqc.2_Missense_Mutation_p.D486H|TRIM39_uc010jsa.1_Intron|RPP21_uc003nqd.1_5'Flank|RPP21_uc003nqe.1_5'Flank|RPP21_uc003nqf.1_5'Flank NM_021253 NP_067076 Q9HCM9 TRI39_HUMAN tripartite motif-containing 39 isoform 1 516 apoptosis cytosol|mitochondrion identical protein binding|zinc ion binding ovary(3) 3 GCCCCCAACAGATTGGGAGTG 0.562 15 23 --- --- --- --- PASS ITPR3 3710 broad.mit.edu 37 6 33634988 33634988 + Missense_Mutation SNP A G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr6:33634988A>G uc011drk.1 + 15 1853 c.1634A>G c.(1633-1635)AAG>AGG p.K545R NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 545 Cytoplasmic (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 TCAGACCAGAAGAACGCCCCC 0.637 9 22 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38851775 38851775 + Splice_Site SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr6:38851775G>T uc003ooe.1 + 54 8208 c.7608_splice c.e54+1 p.Q2536_splice 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 GGGAGATCAGGTATGGCTGAA 0.294 9 28 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38851776 38851776 + Splice_Site SNP T A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr6:38851776T>A uc003ooe.1 + 54 8208 c.7608_splice c.e54+2 p.Q2536_splice 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 GGAGATCAGGTATGGCTGAAA 0.294 9 27 --- --- --- --- PASS SRF 6722 broad.mit.edu 37 6 43146615 43146615 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr6:43146615C>A uc003oui.2 + 6 1901 c.1426C>A c.(1426-1428)CAC>AAC p.H476N SRF_uc011dvf.1_Missense_Mutation_p.H272N NM_003131 NP_003122 P11831 SRF_HUMAN serum response factor (c-fos serum response 476 angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation endoplasmic reticulum protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding ovary(1)|breast(1)|central_nervous_system(1) 3 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) AGTTCAGCTCCACCAGGTAGG 0.502 6 191 --- --- --- --- PASS FAM83B 222584 broad.mit.edu 37 6 54805755 54805755 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr6:54805755G>T uc003pck.2 + 5 2102 c.1986G>T c.(1984-1986)AGG>AGT p.R662S NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 662 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) TACTTAAAAGGCGAAGTTTCC 0.338 8 62 --- --- --- --- PASS PHF3 23469 broad.mit.edu 37 6 64389923 64389923 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr6:64389923G>T uc003pep.1 + 2 293 c.267G>T c.(265-267)ATG>ATT p.M89I PHF3_uc010kaf.1_Missense_Mutation_p.M89I|PHF3_uc003pem.2_Missense_Mutation_p.M42I|PHF3_uc010kag.1_Missense_Mutation_p.M1I|PHF3_uc010kah.1_Intron|PHF3_uc003pen.2_Missense_Mutation_p.M1I|PHF3_uc011dxs.1_5'UTR|PHF3_uc003peo.2_Missense_Mutation_p.M89I NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 89 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) ACGATATTATGGATGAAGGAG 0.318 5 61 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 69945025 69945025 + Missense_Mutation SNP G C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr6:69945025G>C uc003pev.3 + 19 3157 c.2709G>C c.(2707-2709)TGG>TGC p.W903C BAI3_uc010kak.2_Missense_Mutation_p.W903C|BAI3_uc011dxx.1_Missense_Mutation_p.W109C|BAI3_uc003pex.1_Missense_Mutation_p.W33C NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 903 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) CAGCATTATGGAGGTAAGTAA 0.378 5 20 --- --- --- --- PASS SENP6 26054 broad.mit.edu 37 6 76333641 76333641 + Missense_Mutation SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr6:76333641G>A uc003pid.3 + 3 791 c.172G>A c.(172-174)GAA>AAA p.E58K SENP6_uc003pie.3_Missense_Mutation_p.E58K|SENP6_uc003pic.2_Missense_Mutation_p.E58K NM_015571 NP_056386 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 isoform 1 58 proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1) 6 all_hematologic(105;0.189) CAGTGTGGATGAAGATGAGGA 0.313 4 29 --- --- --- --- PASS PHIP 55023 broad.mit.edu 37 6 79688325 79688325 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr6:79688325G>T uc003pir.2 - 24 3099 c.2873C>A c.(2872-2874)CCA>CAA p.P958Q PHIP_uc003piq.2_5'UTR|PHIP_uc011dyp.1_Missense_Mutation_p.P957Q NM_017934 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 958 Mediates interaction with IRS1 (By similarity). insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 6 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) ACCCATCTGTGGCACAAATGG 0.358 4 28 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90442427 90442427 + Missense_Mutation SNP C G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr6:90442427C>G uc003pnn.1 - 34 4907 c.4791G>C c.(4789-4791)AAG>AAC p.K1597N NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 1597 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TGACCACACACTTTCTGCCAA 0.443 15 56 --- --- --- --- PASS TRAF3IP2 10758 broad.mit.edu 37 6 111887689 111887689 + Silent SNP G A A rs144166946 by1000genomes TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr6:111887689G>A uc011ebc.1 - 8 2049 c.1434C>T c.(1432-1434)GAC>GAT p.D478D TRAF3IP2_uc011ebb.1_Silent_p.D22D|TRAF3IP2_uc003pvd.2_Silent_p.D70D|TRAF3IP2_uc003pvg.2_Silent_p.D477D|TRAF3IP2_uc003pvf.2_Silent_p.D478D NM_147686 NP_679211 O43734 CIKS_HUMAN TRAF3 interacting protein 2 isoform 2 487 SEFIR. intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular ovary(2)|central_nervous_system(1) 3 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) GCTCATCCTCGTCCAGCTGCG 0.507 19 62 --- --- --- --- PASS TRDN 10345 broad.mit.edu 37 6 123698878 123698878 + Missense_Mutation SNP G C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr6:123698878G>C uc003pzj.1 - 18 1251 c.1229C>G c.(1228-1230)CCA>CGA p.P410R TRDN_uc003pzk.1_Missense_Mutation_p.P411R|TRDN_uc003pzl.1_Missense_Mutation_p.P411R|TRDN_uc010kem.1_5'UTR NM_006073 NP_006064 Q13061 TRDN_HUMAN triadin 410 Lumenal. muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.184) TTCTTTCTTTGGTGACTTTGC 0.343 10 46 --- --- --- --- PASS ENPP3 5169 broad.mit.edu 37 6 132014720 132014720 + Silent SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr6:132014720C>A uc003qcu.3 + 16 1715 c.1368C>A c.(1366-1368)ATC>ATA p.I456I ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Silent_p.I456I NM_005021 NP_005012 O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 456 Extracellular (Potential).|Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity ovary(3)|skin(1) 4 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) ACGTCAGAATCGACAAAGTTC 0.398 4 49 --- --- --- --- PASS TAAR2 9287 broad.mit.edu 37 6 132939037 132939037 + Missense_Mutation SNP C G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr6:132939037C>G uc003qdl.1 - 2 308 c.308G>C c.(307-309)AGA>ACA p.R103T TAAR2_uc010kfr.1_Missense_Mutation_p.R58T NM_001033080 NP_001028252 Q9P1P5 TAAR2_HUMAN trace amine associated receptor 2 isoform 1 103 Extracellular (Potential). plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151) CTCCACCGATCTGATCATACT 0.413 12 45 --- --- --- --- PASS EYA4 2070 broad.mit.edu 37 6 133827274 133827274 + Missense_Mutation SNP C G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr6:133827274C>G uc003qec.3 + 14 1680 c.1222C>G c.(1222-1224)CGC>GGC p.R408G EYA4_uc011ecq.1_Missense_Mutation_p.R354G|EYA4_uc011ecr.1_Missense_Mutation_p.R360G|EYA4_uc003qed.3_Missense_Mutation_p.R408G|EYA4_uc003qee.3_Missense_Mutation_p.R385G|EYA4_uc011ecs.1_Missense_Mutation_p.R414G|uc003qef.1_RNA|uc003qeg.1_RNA NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 408 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) CCTTGGACTCCGCATGGAAGA 0.323 6 22 --- --- --- --- PASS HIVEP2 3097 broad.mit.edu 37 6 143094585 143094585 + Missense_Mutation SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr6:143094585G>A uc003qjd.2 - 5 2034 c.1291C>T c.(1291-1293)CGG>TGG p.R431W NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 431 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GGACTAAGCCGACAGTATTTT 0.448 21 74 --- --- --- --- PASS UTRN 7402 broad.mit.edu 37 6 144808798 144808798 + Missense_Mutation SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr6:144808798G>A uc003qkt.2 + 28 4029 c.3937G>A c.(3937-3939)GCT>ACT p.A1313T NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 1313 Spectrin 9. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GAAACTGGAGGCTTTCAACAG 0.498 6 48 --- --- --- --- PASS SHPRH 257218 broad.mit.edu 37 6 146256083 146256083 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr6:146256083G>T uc003qlf.2 - 13 3349 c.2950C>A c.(2950-2952)CCA>ACA p.P984T SHPRH_uc003qld.2_Missense_Mutation_p.P984T|SHPRH_uc003qle.2_Missense_Mutation_p.P984T|SHPRH_uc003qlg.1_Missense_Mutation_p.P540T|SHPRH_uc003qlj.1_Missense_Mutation_p.P873T|SHPRH_uc003qlh.2_5'Flank NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 984 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) ACAGCCTGTGGGTGACAGCAG 0.438 23 40 --- --- --- --- PASS ARID1B 57492 broad.mit.edu 37 6 157502211 157502211 + Missense_Mutation SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr6:157502211G>A uc003qqn.2 + 12 3342 c.3190G>A c.(3190-3192)GAG>AAG p.E1064K ARID1B_uc003qqo.2_Missense_Mutation_p.E1024K|ARID1B_uc003qqp.2_Missense_Mutation_p.E1011K|ARID1B_uc010kjl.2_Missense_Mutation_p.E209K NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1069 ARID. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CTTCATGGAAGAGAGAGGCTC 0.577 6 33 --- --- --- --- PASS WTAP 9589 broad.mit.edu 37 6 160164807 160164807 + Missense_Mutation SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr6:160164807G>A uc003qsl.2 + 5 478 c.256G>A c.(256-258)GAG>AAG p.E86K WTAP_uc010kjx.2_Missense_Mutation_p.E86K|WTAP_uc003qsk.2_Missense_Mutation_p.E86K|WTAP_uc003qsm.1_RNA|WTAP_uc003qsn.2_Missense_Mutation_p.E86K NM_004906 NP_004897 Q15007 FL2D_HUMAN Wilms' tumour 1-associating protein isoform 1 86 cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) CAAGGAACAAGAGATGCAAGA 0.358 6 33 --- --- --- --- PASS KDELR2 11014 broad.mit.edu 37 7 6505702 6505702 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr7:6505702C>A uc003sqe.3 - 4 765 c.604G>T c.(604-606)GTA>TTA p.V202L DAGLB_uc003sqd.3_Intron|KDELR2_uc003sqf.3_Intron NM_006854 NP_006845 P33947 ERD22_HUMAN KDEL receptor 2 isoform 1 202 Cytoplasmic (Potential). intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport endoplasmic reticulum membrane|Golgi apparatus|integral to membrane KDEL sequence binding|protein binding|receptor activity ovary(1)|central_nervous_system(1) 2 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) CCCAACATACCTTTTGTAATG 0.488 6 150 --- --- --- --- PASS TMEM195 392636 broad.mit.edu 37 7 15430477 15430477 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr7:15430477C>A uc003stb.1 - 7 900 c.730G>T c.(730-732)GAT>TAT p.D244Y NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 244 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 AAAATTTTATCCCAAATAATA 0.254 4 7 --- --- --- --- PASS C7orf16 10842 broad.mit.edu 37 7 31746859 31746859 + Nonsense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr7:31746859G>T uc003tcl.2 + 5 588 c.430G>T c.(430-432)GAA>TAA p.E144* C7orf16_uc011kaf.1_Nonsense_Mutation_p.E93* NM_006658 NP_006649 O96001 GSUB_HUMAN G-substrate isoform 1 144 behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation soluble fraction ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(11;0.216) AGCAATCGTGGAAGATGACGA 0.428 16 37 --- --- --- --- PASS TARP 445347 broad.mit.edu 37 7 38299746 38299746 + Silent SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr7:38299746G>T uc003tge.1 - 7 1268 c.891C>A c.(889-891)ATC>ATA p.I297I uc003tfx.1_5'Flank|uc003tfz.1_Intron|TARP_uc003tgb.2_Silent_p.I93I|TARP_uc003tgc.1_Silent_p.I93I|TARP_uc003tgd.1_Silent_p.I93I A2JGV3 A2JGV3_HUMAN Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds. Error:Variant_position_missing_in_A2JGV3_after_alignment 0 AGCAGGTGATGATGGCAAAAT 0.458 6 58 --- --- --- --- PASS UPP1 7378 broad.mit.edu 37 7 48147012 48147012 + Missense_Mutation SNP C T T rs138630287 TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr7:48147012C>T uc003toj.2 + 9 1230 c.701C>T c.(700-702)GCG>GTG p.A234V UPP1_uc003tok.2_Missense_Mutation_p.A234V|UPP1_uc003tol.2_Missense_Mutation_p.A234V|UPP1_uc011kch.1_Missense_Mutation_p.A27V|UPP1_uc003ton.2_Missense_Mutation_p.A97V|UPP1_uc003too.2_Missense_Mutation_p.A97V NM_181597 NP_853628 Q16831 UPP1_HUMAN uridine phosphorylase 1 234 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity 0 GACAAGCAGGCGTATCTGGAG 0.602 8 30 --- --- --- --- PASS WBSCR28 135886 broad.mit.edu 37 7 73279346 73279346 + Silent SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr7:73279346C>A uc003tzk.2 + 2 132 c.96C>A c.(94-96)CTC>CTA p.L32L RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_5'UTR NM_182504 NP_872310 Q6UE05 WBS28_HUMAN hypothetical protein LOC135886 32 integral to membrane breast(1) 1 Lung NSC(55;0.159) GAGATCACCTCTATAATTTCC 0.537 8 401 --- --- --- --- PASS RSBN1L 222194 broad.mit.edu 37 7 77325946 77325946 + Silent SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr7:77325946C>A uc010ldt.1 + 1 204 c.160C>A c.(160-162)CGG>AGG p.R54R RSBN1L_uc003ugm.2_5'Flank|uc003ugj.1_RNA NM_198467 NP_940869 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like 54 nucleus ovary(1) 1 GAAGGCACCGCGGAGAGTGAA 0.652 6 22 --- --- --- --- PASS MAGI2 9863 broad.mit.edu 37 7 77756572 77756572 + Missense_Mutation SNP T C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr7:77756572T>C uc003ugx.2 - 19 3619 c.3365A>G c.(3364-3366)TAC>TGC p.Y1122C MAGI2_uc003ugy.2_Missense_Mutation_p.Y1108C|MAGI2_uc010ldx.1_Missense_Mutation_p.Y715C NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 1122 cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) GTGCTGCCTGTAGTCCAGTAG 0.637 14 55 --- --- --- --- PASS SEMA3E 9723 broad.mit.edu 37 7 83014748 83014748 + Silent SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr7:83014748C>A uc003uhy.1 - 16 2203 c.1737G>T c.(1735-1737)GGG>GGT p.G579G NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 579 axon guidance extracellular space|membrane receptor activity ovary(3) 3 Medulloblastoma(109;0.109) CCAAAGCATCCCCTACAACAG 0.358 58 39 --- --- --- --- PASS AKAP9 10142 broad.mit.edu 37 7 91709280 91709280 + Silent SNP A G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr7:91709280A>G uc003ulg.2 + 31 8058 c.7833A>G c.(7831-7833)TTA>TTG p.L2611L AKAP9_uc003ulf.2_Silent_p.L2603L|AKAP9_uc003uli.2_Silent_p.L2234L|AKAP9_uc003ulj.2_Silent_p.L381L NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 2623 Potential.|Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TATCAGAATTAGAAAGCCAGG 0.308 T BRAF papillary thyroid 5 61 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103214585 103214585 + Missense_Mutation SNP C G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr7:103214585C>G uc003vca.2 - 30 4625 c.4465G>C c.(4465-4467)GGG>CGG p.G1489R RELN_uc010liz.2_Missense_Mutation_p.G1489R NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1489 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) TCCCTTTTCCCAGGGCCATTG 0.473 16 67 --- --- --- --- PASS LRRN3 54674 broad.mit.edu 37 7 110763735 110763735 + Missense_Mutation SNP C T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr7:110763735C>T uc003vft.3 + 4 1953 c.907C>T c.(907-909)CTT>TTT p.L303F IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.L303F|LRRN3_uc003vfs.3_Missense_Mutation_p.L303F NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 303 Extracellular (Potential).|LRR 10. integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) CATCGATAGTCTTGCTGTGGA 0.373 13 35 --- --- --- --- PASS LRRN3 54674 broad.mit.edu 37 7 110763895 110763895 + Missense_Mutation SNP C G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr7:110763895C>G uc003vft.3 + 4 2113 c.1067C>G c.(1066-1068)TCT>TGT p.S356C IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.S356C|LRRN3_uc003vfs.3_Missense_Mutation_p.S356C NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 356 Extracellular (Potential).|LRR 12. integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) ACCATTGAGTCTCTGCCAAAC 0.458 6 38 --- --- --- --- PASS PAX4 5078 broad.mit.edu 37 7 127255120 127255120 + Silent SNP T C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr7:127255120T>C uc010lld.1 - 2 356 c.150A>G c.(148-150)CTA>CTG p.L50L PAX4_uc003vmf.2_Silent_p.L48L|PAX4_uc003vmg.1_Silent_p.L50L|PAX4_uc003vmh.2_Silent_p.L48L NM_006193 NP_006184 O43316 PAX4_HUMAN paired box 4 58 Paired. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 AGTAACGCCCTAGGATCTTGC 0.582 14 72 --- --- --- --- PASS OR2A5 393046 broad.mit.edu 37 7 143748242 143748242 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr7:143748242C>A uc011ktw.1 + 1 748 c.748C>A c.(748-750)CTC>ATC p.L250I NM_012365 NP_036497 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, 250 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Melanoma(164;0.0783) CATGGTGGGACTCTTCTTTGG 0.592 28 87 --- --- --- --- PASS GIMAP8 155038 broad.mit.edu 37 7 150164145 150164145 + Missense_Mutation SNP T G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr7:150164145T>G uc003whj.2 + 2 689 c.359T>G c.(358-360)GTG>GGG p.V120G NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 120 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) ATCCAACAAGTGTTTGGAGCT 0.483 9 45 --- --- --- --- PASS AGAP3 116988 broad.mit.edu 37 7 150840947 150840947 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr7:150840947G>T uc003wjg.1 + 18 2656 c.2653G>T c.(2653-2655)GGC>TGC p.G885C AGAP3_uc003wje.1_Missense_Mutation_p.G554C|AGAP3_uc003wjj.1_Missense_Mutation_p.G384C|AGAP3_uc003wjk.1_Missense_Mutation_p.G303C NM_031946 NP_114152 Q96P47 AGAP3_HUMAN centaurin, gamma 3 isoform a 849 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 GGAGGGCTGTGGCTTAGCGCC 0.647 11 33 --- --- --- --- PASS AGAP3 116988 broad.mit.edu 37 7 150840948 150840948 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr7:150840948G>T uc003wjg.1 + 18 2657 c.2654G>T c.(2653-2655)GGC>GTC p.G885V AGAP3_uc003wje.1_Missense_Mutation_p.G554V|AGAP3_uc003wjj.1_Missense_Mutation_p.G384V|AGAP3_uc003wjk.1_Missense_Mutation_p.G303V NM_031946 NP_114152 Q96P47 AGAP3_HUMAN centaurin, gamma 3 isoform a 849 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 GAGGGCTGTGGCTTAGCGCCT 0.647 12 32 --- --- --- --- PASS GSR 2936 broad.mit.edu 37 8 30539494 30539494 + Missense_Mutation SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr8:30539494G>A uc003xih.1 - 11 1329 c.1238C>T c.(1237-1239)ACT>ATT p.T413I NM_000637 NP_000628 P00390 GSHR_HUMAN glutathione reductase precursor 413 cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion cytosol|mitochondrion electron carrier activity|glutathione-disulfide reductase activity ovary(2)|pancreas(2)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125) Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157) GAAGACCACAGTTGGGATGTT 0.428 8 33 --- --- --- --- PASS ADAM18 8749 broad.mit.edu 37 8 39525607 39525607 + Missense_Mutation SNP C G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr8:39525607C>G uc003xni.2 + 14 1417 c.1417C>G c.(1417-1419)CCT>GCT p.P473A ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.P449A NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN a disintegrin and metalloprotease domain 18 473 Disintegrin.|Extracellular (Potential). cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1) 6 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TAATTGTGTTCCTGACACTTA 0.418 29 38 --- --- --- --- PASS HGSNAT 138050 broad.mit.edu 37 8 43037324 43037324 + Missense_Mutation SNP A T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr8:43037324A>T uc003xpx.3 + 11 1097 c.1049A>T c.(1048-1050)CAG>CTG p.Q350L NM_152419 NP_689632 Q68CP4 HGNAT_HUMAN heparan-alpha-glucosaminide N-acetyltransferase 378 Helical; (Potential). lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity 0 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) GGTGTGCTGCAGCGATTGGGA 0.483 110 504 --- --- --- --- PASS SNTG1 54212 broad.mit.edu 37 8 51664659 51664659 + Missense_Mutation SNP G C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr8:51664659G>C uc010lxy.1 + 19 1754 c.1383G>C c.(1381-1383)CAG>CAC p.Q461H SNTG1_uc003xqs.1_Missense_Mutation_p.Q461H|SNTG1_uc010lxz.1_Intron|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 461 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) ATACTAAACAGATTGAAGCAA 0.373 3 21 --- --- --- --- PASS CYP7A1 1581 broad.mit.edu 37 8 59404141 59404141 + Missense_Mutation SNP T A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr8:59404141T>A uc003xtm.3 - 6 1471 c.1408A>T c.(1408-1410)ATA>TTA p.I470L NM_000780 NP_000771 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, 470 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) TGGCCCTCTATAAGCTCCAAT 0.408 Neonatal_Giant_Cell_Hepatitis 11 48 --- --- --- --- PASS NCOA2 10499 broad.mit.edu 37 8 71082563 71082563 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr8:71082563C>A uc003xyn.1 - 6 577 c.415G>T c.(415-417)GTG>TTG p.V139L NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 139 PAS. cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) TTCTCTGACACAAACACAACG 0.408 T RUNXBP2 AML 11 25 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77763640 77763640 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr8:77763640C>A uc003yav.2 + 10 4735 c.4348C>A c.(4348-4350)CAC>AAC p.H1450N ZFHX4_uc003yau.1_Missense_Mutation_p.H1495N|ZFHX4_uc003yaw.1_Missense_Mutation_p.H1450N NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1450 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) TGAGGTGGACCACGAAGGGAA 0.507 HNSCC(33;0.089) 5 55 --- --- --- --- PASS DCAF4L2 138009 broad.mit.edu 37 8 88885863 88885863 + Missense_Mutation SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr8:88885863G>A uc003ydz.2 - 1 434 c.337C>T c.(337-339)CGG>TGG p.R113W NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 113 ovary(1) 1 GGGTATACCCGGAGCTCAGGG 0.537 28 64 --- --- --- --- PASS RBM12B 389677 broad.mit.edu 37 8 94746211 94746211 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr8:94746211C>A uc003yfz.2 - 3 2621 c.2428G>T c.(2428-2430)GAC>TAC p.D810Y NM_203390 NP_976324 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 810 nucleotide binding|RNA binding 0 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) CCCCTGAAGTCTTCATCTGGT 0.577 16 85 --- --- --- --- PASS VPS13B 157680 broad.mit.edu 37 8 100513915 100513915 + Missense_Mutation SNP G C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr8:100513915G>C uc003yiv.2 + 26 3982 c.3871G>C c.(3871-3873)GGA>CGA p.G1291R VPS13B_uc003yiw.2_Missense_Mutation_p.G1291R|VPS13B_uc003yiu.1_Missense_Mutation_p.G1291R|VPS13B_uc003yix.1_Missense_Mutation_p.G761R NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1291 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CTCATCCCAGGGAGATTCTAT 0.308 6 63 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113668571 113668571 + Splice_Site SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr8:113668571C>A uc003ynu.2 - 18 2976 c.2817_splice c.e18-1 p.R939_splice CSMD3_uc003yns.2_Splice_Site_p.R211_splice|CSMD3_uc003ynt.2_Splice_Site_p.R899_splice|CSMD3_uc011lhx.1_Splice_Site_p.R835_splice NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AGTCTGAAATCTAAGATTAAA 0.338 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 15 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 114111088 114111088 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr8:114111088C>A uc003ynu.2 - 5 973 c.814G>T c.(814-816)GTA>TTA p.V272L CSMD3_uc003ynt.2_Missense_Mutation_p.V232L|CSMD3_uc011lhx.1_Missense_Mutation_p.V272L|CSMD3_uc010mcx.1_Missense_Mutation_p.V272L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 272 Extracellular (Potential).|CUB 2. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GGCTCTGCTACAATGGTCCAA 0.408 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 13 --- --- --- --- PASS NOV 4856 broad.mit.edu 37 8 120431549 120431549 + Silent SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr8:120431549G>T uc003yoq.2 + 4 962 c.741G>T c.(739-741)CGG>CGT p.R247R NM_002514 NP_002505 P48745 NOV_HUMAN nephroblastoma overexpressed precursor 247 TSP type-1. regulation of cell growth growth factor activity|insulin-like growth factor binding ovary(2)|skin(2)|kidney(1) 5 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCATGGTGCGGCCCTGTGAAC 0.562 26 110 --- --- --- --- PASS ZHX2 22882 broad.mit.edu 37 8 123964442 123964442 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr8:123964442G>T uc003ypk.1 + 3 1259 c.692G>T c.(691-693)GGG>GTG p.G231V NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 231 Required for homodimerization. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) AGACTCGGCGGGGTGGAGCTC 0.577 37 105 --- --- --- --- PASS KHDRBS3 10656 broad.mit.edu 37 8 136594138 136594138 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr8:136594138C>A uc003yuv.2 + 6 1023 c.629C>A c.(628-630)ACA>AAA p.T210K KHDRBS3_uc003yuw.2_Missense_Mutation_p.T210K|KHDRBS3_uc010mek.2_RNA NM_006558 NP_006549 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal 210 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding ovary(2) 2 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) GGAGGAGTTACAGCCCGGCCA 0.493 24 43 --- --- --- --- PASS SLC1A1 6505 broad.mit.edu 37 9 4576030 4576030 + Missense_Mutation SNP C T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr9:4576030C>T uc003zij.1 + 9 1141 c.905C>T c.(904-906)CCG>CTG p.P302L C9orf68_uc003zik.2_Intron NM_004170 NP_004161 P43005 EAA3_HUMAN solute carrier family 1, member 1 302 Helical; (Potential). D-aspartate import|L-glutamate import|synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity 0 Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457) GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183) L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142) GTAATTCTCCCGCTGATATAT 0.413 25 31 --- --- --- --- PASS GLDC 2731 broad.mit.edu 37 9 6550883 6550883 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr9:6550883G>T uc003zkc.2 - 21 2682 c.2489C>A c.(2488-2490)ACG>AAG p.T830K NM_000170 NP_000161 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 830 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) CGCAGTTTCCGTGGCTTGTTT 0.423 98 59 --- --- --- --- PASS PTPRD 5789 broad.mit.edu 37 9 8486189 8486189 + Silent SNP T C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr9:8486189T>C uc003zkk.2 - 27 3339 c.2628A>G c.(2626-2628)AAA>AAG p.K876K PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Silent_p.K867K|PTPRD_uc003zkm.2_Silent_p.K863K|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 876 Fibronectin type-III 6.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AGTGATCTTCTTTTTCAGAGA 0.498 TSP Lung(15;0.13) 158 33 --- --- --- --- PASS CER1 9350 broad.mit.edu 37 9 14720184 14720184 + Silent SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr9:14720184C>A uc003zlj.2 - 2 753 c.708G>T c.(706-708)GTG>GTT p.V236V NM_005454 NP_005445 O95813 CER1_HUMAN cerberus 1 precursor 236 CTCK. BMP signaling pathway extracellular space cytokine activity 0 GBM - Glioblastoma multiforme(50;3.16e-06) GGCACTCCTCCACCAGCATCA 0.522 6 97 --- --- --- --- PASS FANCG 2189 broad.mit.edu 37 9 35079502 35079502 + Missense_Mutation SNP G A A rs35984312 byFrequency TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr9:35079502G>A uc003zwb.1 - 1 512 c.20C>T c.(19-21)TCT>TTT p.S7F FANCG_uc003zwa.1_5'Flank|FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Missense_Mutation_p.S7F NM_004629 NP_004620 O15287 FANCG_HUMAN Fanconi anemia, complementation group G 7 cell cycle checkpoint|DNA repair|mitochondrion organization mitochondrion|nucleoplasm damaged DNA binding|protein binding ovary(2)|large_intestine(1)|lung(1) 4 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GGAGCCCACAGAGGTGGTCTG 0.647 Mis|N|F|S AML|leukemia Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 8 46 --- --- --- --- PASS FANCG 2189 broad.mit.edu 37 9 35079503 35079503 + Missense_Mutation SNP A T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr9:35079503A>T uc003zwb.1 - 1 511 c.19T>A c.(19-21)TCT>ACT p.S7T FANCG_uc003zwa.1_5'Flank|FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Missense_Mutation_p.S7T NM_004629 NP_004620 O15287 FANCG_HUMAN Fanconi anemia, complementation group G 7 cell cycle checkpoint|DNA repair|mitochondrion organization mitochondrion|nucleoplasm damaged DNA binding|protein binding ovary(2)|large_intestine(1)|lung(1) 4 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GAGCCCACAGAGGTGGTCTGG 0.647 Mis|N|F|S AML|leukemia Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 8 45 --- --- --- --- PASS TLN1 7094 broad.mit.edu 37 9 35720477 35720477 + Missense_Mutation SNP T A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr9:35720477T>A uc003zxt.2 - 12 1590 c.1236A>T c.(1234-1236)GAA>GAT p.E412D NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 412 Interaction with LAYN (By similarity). axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CCTCATCTCCTTCCAGCCCAA 0.488 87 113 --- --- --- --- PASS ZCCHC7 84186 broad.mit.edu 37 9 37126431 37126431 + Missense_Mutation SNP A T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr9:37126431A>T uc003zzq.2 + 2 275 c.102A>T c.(100-102)CAA>CAT p.Q34H ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Missense_Mutation_p.Q33H|ZCCHC7_uc010mlt.2_Missense_Mutation_p.Q33H|ZCCHC7_uc003zzs.1_Missense_Mutation_p.Q33H NM_032226 NP_115602 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 34 nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(29;0.0137) TGGAATTTCAACTCTATAGCC 0.398 10 72 --- --- --- --- PASS VPS13A 23230 broad.mit.edu 37 9 79968365 79968365 + Missense_Mutation SNP A G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr9:79968365A>G uc004akr.2 + 54 7720 c.7460A>G c.(7459-7461)TAT>TGT p.Y2487C VPS13A_uc004akp.3_Missense_Mutation_p.Y2487C|VPS13A_uc004akq.3_Missense_Mutation_p.Y2487C|VPS13A_uc004aks.2_Missense_Mutation_p.Y2448C NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 2487 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 AAGACAATATATTTAGTTTCA 0.299 4 25 --- --- --- --- PASS ABCA1 19 broad.mit.edu 37 9 107645435 107645435 + Silent SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr9:107645435C>A uc004bcl.2 - 5 619 c.306G>T c.(304-306)GTG>GTT p.V102V ABCA1_uc004bcm.2_Silent_p.V42V NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 102 Extracellular. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ACAGGCGAGCCACACTGTAAA 0.493 17 73 --- --- --- --- PASS TLR4 7099 broad.mit.edu 37 9 120476154 120476154 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr9:120476154G>T uc004bjz.2 + 3 2039 c.1748G>T c.(1747-1749)TGT>TTT p.C583F TLR4_uc004bka.2_Missense_Mutation_p.C543F|TLR4_uc004bkb.2_Missense_Mutation_p.C383F NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 583 LRRCT.|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 GACTTTGCTTGTACTTGTGAA 0.408 15 29 --- --- --- --- PASS NELF 26012 broad.mit.edu 37 9 140347593 140347593 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr9:140347593G>T uc004cna.2 - 9 1194 c.962C>A c.(961-963)GCC>GAC p.A321D C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_Missense_Mutation_p.A118D|NELF_uc010nci.2_Missense_Mutation_p.A65D|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Missense_Mutation_p.A298D|NELF_uc004cmz.2_Missense_Mutation_p.A319D|NELF_uc004cnc.2_Missense_Mutation_p.A296D|NELF_uc004cnb.2_Missense_Mutation_p.A291D NM_001130969 NP_001124441 Q6X4W1 NELF_HUMAN nasal embryonic LHRH factor isoform a 321 nucleus|plasma membrane 0 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888) GTCCTCGAAGGCCTCGTCCAG 0.657 4 34 --- --- --- --- PASS C10orf18 54906 broad.mit.edu 37 10 5789240 5789240 + Silent SNP C T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr10:5789240C>T uc001iij.2 + 15 4481 c.3856C>T c.(3856-3858)CTA>TTA p.L1286L C10orf18_uc001iik.2_Silent_p.L130L NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 1286 ovary(1)|central_nervous_system(1) 2 TGACTTAGCTCTAACAATATC 0.418 26 124 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55582261 55582261 + Missense_Mutation SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr10:55582261G>A uc001jju.1 - 33 5620 c.5225C>T c.(5224-5226)CCT>CTT p.P1742L PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1739L|PCDH15_uc010qhw.1_Missense_Mutation_p.P1702L|PCDH15_uc010qhx.1_Missense_Mutation_p.P1673L|PCDH15_uc010qhy.1_Missense_Mutation_p.P1749L|PCDH15_uc010qhz.1_Missense_Mutation_p.P1744L|PCDH15_uc010qia.1_Missense_Mutation_p.P1722L|PCDH15_uc010qib.1_Missense_Mutation_p.P1719L NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1742 Cytoplasmic (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) aCAGGCAGAAGGAGAGATGTT 0.209 HNSCC(58;0.16) 3 17 --- --- --- --- PASS TET1 80312 broad.mit.edu 37 10 70451506 70451506 + Missense_Mutation SNP A G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr10:70451506A>G uc001jok.3 + 12 6851 c.6346A>G c.(6346-6348)AAT>GAT p.N2116D NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 2116 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 AACCCATGACAATGTTGTCAC 0.453 20 64 --- --- --- --- PASS COL13A1 1305 broad.mit.edu 37 10 71690217 71690217 + Missense_Mutation SNP A G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr10:71690217A>G uc001jpr.1 + 28 2095 c.1559A>G c.(1558-1560)GAT>GGT p.D520G COL13A1_uc001jqj.1_Missense_Mutation_p.D520G|COL13A1_uc001jps.1_Missense_Mutation_p.D491G|COL13A1_uc001jpt.1_Missense_Mutation_p.D479G|COL13A1_uc001jpu.1_Missense_Mutation_p.D501G|COL13A1_uc001jpv.1_Missense_Mutation_p.D520G|COL13A1_uc001jpx.1_Missense_Mutation_p.D498G|COL13A1_uc001jpw.1_Missense_Mutation_p.D467G|COL13A1_uc001jpy.1_Missense_Mutation_p.D458G|COL13A1_uc001jpz.1_Missense_Mutation_p.D463G|COL13A1_uc001jqa.1_Missense_Mutation_p.D460G|COL13A1_uc001jqc.1_Missense_Mutation_p.D520G|COL13A1_uc001jqb.1_Missense_Mutation_p.D469G|COL13A1_uc001jql.2_Missense_Mutation_p.D520G|COL13A1_uc001jqd.1_Missense_Mutation_p.D508G|COL13A1_uc001jqe.1_Missense_Mutation_p.D503G|COL13A1_uc001jqf.1_Missense_Mutation_p.D501G|COL13A1_uc001jqg.1_Missense_Mutation_p.D498G|COL13A1_uc001jqh.1_Missense_Mutation_p.D520G|COL13A1_uc001jqi.1_Missense_Mutation_p.D520G|COL13A1_uc010qjf.1_Missense_Mutation_p.D310G NM_005203 NP_005194 Q5TAT6 CODA1_HUMAN alpha 1 type XIII collagen isoform 1 520 Extracellular (Potential).|Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding ovary(1) 1 Atorvastatin(DB01076)|Simvastatin(DB00641) CCAGGAAAGGATGGACCTCCA 0.567 5 9 --- --- --- --- PASS LRRC20 55222 broad.mit.edu 37 10 72100443 72100443 + Missense_Mutation SNP T A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr10:72100443T>A uc001jqx.1 - 3 320 c.98A>T c.(97-99)AAG>ATG p.K33M LRRC20_uc001jqy.1_Missense_Mutation_p.K33M|LRRC20_uc001jqz.1_Intron NM_207119 NP_997002 Q8TCA0 LRC20_HUMAN leucine rich repeat containing 20 isoform 1 33 0 GGAGACCAGCTTGCACTCGGC 0.547 8 36 --- --- --- --- PASS LRIT1 26103 broad.mit.edu 37 10 85993948 85993948 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr10:85993948C>A uc001kcz.1 - 3 798 c.776G>T c.(775-777)GGA>GTA p.G259V NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN retina specific protein PAL 259 Lumenal (Potential). integral to endoplasmic reticulum membrane 0 GCTGGCCACTCCTGGATGGAG 0.617 19 62 --- --- --- --- PASS SORBS1 10580 broad.mit.edu 37 10 97098986 97098986 + Silent SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr10:97098986C>A uc001kkp.2 - 27 2814 c.2769G>T c.(2767-2769)GTG>GTT p.V923V SORBS1_uc001kkk.2_Silent_p.V417V|SORBS1_uc001kkl.2_Silent_p.V525V|SORBS1_uc001kkn.2_Silent_p.V688V|SORBS1_uc001kkm.2_Silent_p.V723V|SORBS1_uc001kko.2_Silent_p.V945V|SORBS1_uc001kkq.2_Silent_p.V774V|SORBS1_uc001kkr.2_Silent_p.V629V|SORBS1_uc001kks.2_Silent_p.V573V|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Silent_p.V670V|SORBS1_uc001kkv.2_Silent_p.V705V|SORBS1_uc001kkw.2_Silent_p.V877V|SORBS1_uc010qoe.1_Silent_p.V638V NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 isoform 3 923 SH3 2. focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity breast(1) 1 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) TGATCACATCCACGTAGGTGA 0.562 5 68 --- --- --- --- PASS NRAP 4892 broad.mit.edu 37 10 115365986 115365986 + Missense_Mutation SNP C G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr10:115365986C>G uc001laj.2 - 33 3922 c.3758G>C c.(3757-3759)GGT>GCT p.G1253A NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.G1218A|NRAP_uc001lal.3_Missense_Mutation_p.G1253A NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 1253 Nebulin 33. 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) CTCGGGCAGACCCAGGGTCAT 0.438 9 33 --- --- --- --- PASS CASP7 840 broad.mit.edu 37 10 115486137 115486137 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr10:115486137C>A uc001lan.2 + 6 800 c.626C>A c.(625-627)CCT>CAT p.P209H CASP7_uc001lam.2_Missense_Mutation_p.L198I|CASP7_uc001lao.2_Missense_Mutation_p.P242H|CASP7_uc001lap.2_Missense_Mutation_p.P209H|CASP7_uc001laq.2_Missense_Mutation_p.P209H|CASP7_uc010qsa.1_Missense_Mutation_p.P294H|CASP7_uc010qsb.1_Missense_Mutation_p.P184H NM_033339 NP_203125 P55210 CASP7_HUMAN caspase 7 isoform alpha 209 activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm cysteine-type endopeptidase activity|protein binding ovary(1) 1 Colorectal(252;0.0946)|Breast(234;0.188) Epithelial(162;0.012)|all cancers(201;0.014) GATGCTAATCCTCGATACAAG 0.498 5 66 --- --- --- --- PASS KCNK18 338567 broad.mit.edu 37 10 118960727 118960727 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr10:118960727G>T uc010qsr.1 + 2 281 c.281G>T c.(280-282)TGG>TTG p.W94L NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 94 integral to membrane|plasma membrane upper_aerodigestive_tract(1) 1 Colorectal(252;0.19) all cancers(201;0.0211) AAGCCTCAGTGGTTTAACAGG 0.527 41 105 --- --- --- --- PASS CUZD1 50624 broad.mit.edu 37 10 124597003 124597003 + Missense_Mutation SNP C G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr10:124597003C>G uc001lgq.2 - 4 848 c.516G>C c.(514-516)AAG>AAC p.K172N CUZD1_uc001lgp.2_5'UTR|CUZD1_uc009yad.2_5'UTR|CUZD1_uc009yaf.2_Intron|CUZD1_uc001lgr.2_5'UTR|CUZD1_uc010qty.1_5'UTR|CUZD1_uc009yae.2_5'UTR|CUZD1_uc001lgs.2_Missense_Mutation_p.K172N|CUZD1_uc010qtz.1_Missense_Mutation_p.K172N NM_022034 NP_071317 Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 precursor 172 Extracellular (Potential).|CUB 2. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane ovary(1)|skin(1) 2 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) CAGGATGCGGCTTTGGGTAAT 0.443 24 59 --- --- --- --- PASS IKZF5 64376 broad.mit.edu 37 10 124758038 124758038 + Missense_Mutation SNP C T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr10:124758038C>T uc001lha.2 - 3 403 c.104G>A c.(103-105)GGG>GAG p.G35E NM_022466 NP_071911 Q9H5V7 IKZF5_HUMAN zinc finger protein, subfamily 1A, 5 35 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222) Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754) TTCTTTGTCCCCACTAACTGA 0.408 5 45 --- --- --- --- PASS MUC2 4583 broad.mit.edu 37 11 1093582 1093582 + Missense_Mutation SNP G C C rs55641679 TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:1093582G>C uc001lsx.1 + 31 12514 c.12487G>C c.(12487-12489)GCA>CCA p.A4163P NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 4163 P -> A (in Ref. 4). inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) tacGGTGACCGCAACCCCAAC 0.338 4 22 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1157747 1157747 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:1157747G>T uc009ycr.1 + 9 940 c.814G>T c.(814-816)GGC>TGC p.G272C NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 268 VWFD 1. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCTCCTGCACGGCCAGCTGTT 0.637 9 18 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1271174 1271174 + Missense_Mutation SNP C G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:1271174C>G uc009ycr.1 + 51 14609 c.14483C>G c.(14482-14484)TCC>TGC p.S4828C MUC5B_uc001ltb.2_Missense_Mutation_p.S4358C NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 4355 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CACCCCTCCTCCACTCCGGAG 0.657 26 51 --- --- --- --- PASS TRIM21 6737 broad.mit.edu 37 11 4408217 4408217 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:4408217C>A uc001lyy.1 - 5 852 c.739G>T c.(739-741)GTG>TTG p.V247L NM_003141 NP_003132 P19474 RO52_HUMAN tripartite motif protein 21 247 cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|lung(1) 4 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) ACAATTATCACCTCCTGAGGA 0.458 4 8 --- --- --- --- PASS OR52B2 255725 broad.mit.edu 37 11 6190909 6190909 + Silent SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:6190909G>T uc010qzy.1 - 1 648 c.648C>A c.(646-648)ATC>ATA p.I216I NM_001004052 NP_001004052 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, 216 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAGACACAGCGATGAGGATAA 0.512 20 37 --- --- --- --- PASS CTR9 9646 broad.mit.edu 37 11 10776627 10776627 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:10776627G>T uc001mja.2 + 3 416 c.267G>T c.(265-267)TTG>TTT p.L89F NM_014633 NP_055448 Q6PD62 CTR9_HUMAN SH2 domain binding protein 1 89 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck ovary(2) 2 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TGGATACATTGGCAGCGTATT 0.378 7 153 --- --- --- --- PASS HPS5 11234 broad.mit.edu 37 11 18303747 18303747 + Nonsense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:18303747C>A uc001mod.1 - 22 3357 c.3079G>T c.(3079-3081)GAG>TAG p.E1027* HPS5_uc001moe.1_Nonsense_Mutation_p.E913*|HPS5_uc001mof.1_Nonsense_Mutation_p.E913* NM_181507 NP_852608 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 isoform a 1027 cytosol ovary(1)|pancreas(1)|skin(1) 3 TTCCATTCCTCCACGGTCTCT 0.517 Hermansky-Pudlak_syndrome 5 53 --- --- --- --- PASS COMMD9 29099 broad.mit.edu 37 11 36296266 36296266 + Silent SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:36296266C>A uc001mwn.3 - 6 550 c.513G>T c.(511-513)GTG>GTT p.V171V COMMD9_uc009ykj.2_Silent_p.V129V|COMMD9_uc009yki.1_5'Flank NM_014186 NP_054905 Q9P000 COMD9_HUMAN COMM domain containing 9 isoform 1 171 COMM. ovary(1) 1 all_lung(20;0.211) all_hematologic(20;0.107) TGCTCAGCTCCACGGTGACAG 0.542 5 97 --- --- --- --- PASS LRP4 4038 broad.mit.edu 37 11 46900684 46900684 + Silent SNP C T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:46900684C>T uc001ndn.3 - 21 3143 c.2997G>A c.(2995-2997)CGG>CGA p.R999R NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 999 Extracellular (Potential). endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) CACCTGGGGGCCGGCGGCGGT 0.607 28 95 --- --- --- --- PASS OR4C13 283092 broad.mit.edu 37 11 49974260 49974260 + Missense_Mutation SNP A T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:49974260A>T uc010rhz.1 + 1 286 c.286A>T c.(286-288)ATG>TTG p.M96L NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, 96 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 CAATGGATGTATGACTCAAGT 0.413 25 49 --- --- --- --- PASS OR4A15 81328 broad.mit.edu 37 11 55135552 55135552 + Missense_Mutation SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:55135552G>A uc010rif.1 + 1 193 c.193G>A c.(193-195)GTG>ATG p.V65M NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 65 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AATCTACATGGTGACGATAAT 0.418 8 36 --- --- --- --- PASS OR4A15 81328 broad.mit.edu 37 11 55136373 55136373 + Silent SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:55136373G>A uc010rif.1 + 1 1014 c.1014G>A c.(1012-1014)GGG>GGA p.G338G NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 338 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GCTTAGCTGGGAAATGGCTGT 0.368 10 45 --- --- --- --- PASS OR5D18 219438 broad.mit.edu 37 11 55587161 55587161 + Nonsense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:55587161C>A uc010rin.1 + 1 56 c.56C>A c.(55-57)TCA>TAA p.S19* NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 19 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) TTGGGCTTCTCAGATTACCCA 0.428 21 27 --- --- --- --- PASS OR8H3 390152 broad.mit.edu 37 11 55890170 55890170 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:55890170G>T uc001nii.1 + 1 322 c.322G>T c.(322-324)GGT>TGT p.G108C NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 108 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) TGTCTTCTTGGGTACTGCTGA 0.453 9 238 --- --- --- --- PASS OR8H3 390152 broad.mit.edu 37 11 55890505 55890505 + Silent SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:55890505G>A uc001nii.1 + 1 657 c.657G>A c.(655-657)GTG>GTA p.V219V NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 219 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) CATCCTATGTGTCCATTCTCT 0.438 13 68 --- --- --- --- PASS OR5J2 282775 broad.mit.edu 37 11 55944289 55944289 + Missense_Mutation SNP C G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:55944289C>G uc010rjb.1 + 1 196 c.196C>G c.(196-198)CTT>GTT p.L66V NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 66 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) ACTCAGCTGTCTTTCATTTGT 0.443 23 87 --- --- --- --- PASS OR5T1 390155 broad.mit.edu 37 11 56043645 56043645 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:56043645C>A uc001nio.1 + 1 531 c.531C>A c.(529-531)AGC>AGA p.S177R NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 177 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) CTACATTTAGCCTGTCCTTCT 0.418 8 116 --- --- --- --- PASS OR4D6 219983 broad.mit.edu 37 11 59224488 59224488 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:59224488C>A uc010rku.1 + 1 55 c.55C>A c.(55-57)CGT>AGT p.R19S NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, 19 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GGAACTTACACGTTCCCGAGA 0.443 34 93 --- --- --- --- PASS TM7SF2 7108 broad.mit.edu 37 11 64880868 64880868 + Missense_Mutation SNP G C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:64880868G>C uc001oct.2 + 4 628 c.481G>C c.(481-483)GCA>CCA p.A161P TM7SF2_uc010rny.1_Missense_Mutation_p.A45P|TM7SF2_uc001ocu.2_Missense_Mutation_p.A161P|TM7SF2_uc001ocv.2_Missense_Mutation_p.A182P NM_003273 NP_003264 O76062 ERG24_HUMAN transmembrane 7 superfamily member 2 161 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane delta14-sterol reductase activity ovary(1) 1 TTCGGCCCTGGCACCTGGGGG 0.587 OREG0021072 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 81 --- --- --- --- PASS DPP3 10072 broad.mit.edu 37 11 66254031 66254031 + Silent SNP C T T rs76983925 by1000genomes TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:66254031C>T uc001oig.1 + 4 443 c.381C>T c.(379-381)ATC>ATT p.I127I DPP3_uc001oif.1_Silent_p.I127I|DPP3_uc010rpe.1_Silent_p.I116I NM_005700 NP_005691 Q9NY33 DPP3_HUMAN dipeptidyl peptidase III 127 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity ovary(1)|skin(1) 2 AACGGGTGATCCTAGGGAGTG 0.602 21 114 --- --- --- --- PASS RBM4 5936 broad.mit.edu 37 11 66411414 66411414 + Silent SNP A T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:66411414A>T uc009yrj.2 + 3 1394 c.906A>T c.(904-906)TCA>TCT p.S302S RBM4_uc009yrk.2_Silent_p.S277S|RBM4_uc001oiw.1_Silent_p.S302S|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Silent_p.S302S|RBM4_uc001oiz.1_Silent_p.S302S NM_002896 NP_002887 Q9BWF3 RBM4_HUMAN RNA binding motif protein 4 302 Interaction with TNPO3. circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade nuclear speck|nucleolus|stress granule miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding ovary(1) 1 Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266) ctTCCACTTCATATTACGGGC 0.438 8 28 --- --- --- --- PASS AIP 9049 broad.mit.edu 37 11 67258318 67258318 + Missense_Mutation SNP G C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:67258318G>C uc001olv.2 + 6 972 c.847G>C c.(847-849)GAG>CAG p.E283Q NM_003977 NP_003968 O00170 AIP_HUMAN aryl hydrocarbon receptor interacting protein 283 TPR 2. protein maturation by protein folding|protein targeting to mitochondrion nucleus signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding 0 GAATGCCCAGGAGGCCCAGGC 0.667 Familial_Isolated_Pituitary_Adenoma_ 4 25 --- --- --- --- PASS GAL 51083 broad.mit.edu 37 11 68453099 68453099 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:68453099G>T uc001oob.2 + 3 337 c.119G>T c.(118-120)GGC>GTC p.G40V NM_015973 NP_057057 P22466 GALA_HUMAN galanin preproprotein 40 growth hormone secretion|insulin secretion|neuropeptide signaling pathway|smooth muscle contraction extracellular region neuropeptide hormone activity 0 Esophageal squamous(3;7.33e-10) Melanoma(852;0.0749) LUAD - Lung adenocarcinoma(13;0.0514) Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154) AACAGCGCGGGCTACCTGCTG 0.632 6 60 --- --- --- --- PASS CPT1A 1374 broad.mit.edu 37 11 68574951 68574951 + Missense_Mutation SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:68574951G>A uc001oog.3 - 4 607 c.437C>T c.(436-438)GCC>GTC p.A146V CPT1A_uc001oof.3_Missense_Mutation_p.A146V|CPT1A_uc009ysj.2_Missense_Mutation_p.A146V NM_001876 NP_001867 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A liver isoform 146 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity skin(2) 2 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) GATCTTGGTGGCACGACTCAT 0.597 5 93 --- --- --- --- PASS ANO1 55107 broad.mit.edu 37 11 70007429 70007429 + Missense_Mutation SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:70007429G>A uc001opj.2 + 17 2046 c.1741G>A c.(1741-1743)GAG>AAG p.E581K ANO1_uc001opk.1_Missense_Mutation_p.E523K|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.E290K NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 581 Helical; (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 CCTCCTGGACGAGGTGTATGG 0.463 19 245 --- --- --- --- PASS CTTN 2017 broad.mit.edu 37 11 70255985 70255985 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:70255985G>T uc001opv.3 + 5 416 c.210G>T c.(208-210)AAG>AAT p.K70N CTTN_uc001opu.2_Missense_Mutation_p.K70N|CTTN_uc001opw.3_Missense_Mutation_p.K70N NM_005231 NP_005222 Q14247 SRC8_HUMAN cortactin isoform a 70 cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) AGACCCTTAAGGAGAAGGAAC 0.463 12 925 --- --- --- --- PASS ARRB1 408 broad.mit.edu 37 11 74994459 74994459 + Missense_Mutation SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:74994459G>A uc001owe.1 - 5 448 c.226C>T c.(226-228)CGC>TGC p.R76C ARRB1_uc001owf.1_Missense_Mutation_p.R76C NM_004041 NP_004032 P49407 ARRB1_HUMAN arrestin beta 1 isoform A 76 Interaction with CHRM2 (By similarity).|Interaction with SRC (By similarity). G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding breast(2) 2 AGGTCCTTGCGAAAGGTCAGG 0.642 39 32 --- --- --- --- PASS ATM 472 broad.mit.edu 37 11 108224510 108224510 + Missense_Mutation SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:108224510G>A uc001pkb.1 + 60 9074 c.8689G>A c.(8689-8691)GGC>AGC p.G2897S ATM_uc009yxr.1_Missense_Mutation_p.G2897S|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.G1549S NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 2897 PI3K/PI4K. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TTTTGAACAGGGCAAAATCCT 0.408 D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 29 52 --- --- --- --- PASS CBL 867 broad.mit.edu 37 11 119155953 119155953 + Silent SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:119155953C>A uc001pwe.2 + 11 1756 c.1618C>A c.(1618-1620)CGA>AGA p.R540R NM_005188 NP_005179 P22681 CBL_HUMAN Cas-Br-M (murine) ecotropic retroviral 540 Pro-rich. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1) 149 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) TCCCACACTTCGAGATCTTCC 0.532 CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome OREG0021401 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 68 --- --- --- --- PASS IGSF9B 22997 broad.mit.edu 37 11 133805642 133805642 + Missense_Mutation SNP C G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:133805642C>G uc001qgx.3 - 7 1068 c.837G>C c.(835-837)AGG>AGC p.R279S IGSF9B_uc001qgy.1_Missense_Mutation_p.R121S NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 279 Extracellular (Potential).|Ig-like 3. integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GGATGCGCACCCTCAGCTTCA 0.632 5 7 --- --- --- --- PASS GLB1L2 89944 broad.mit.edu 37 11 134228991 134228991 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr11:134228991C>A uc001qhp.2 + 7 877 c.689C>A c.(688-690)ACT>AAT p.T230N GLB1L2_uc009zdg.1_RNA NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 precursor 230 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(1)|pancreas(1)|skin(1) 3 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) CTGCTCCTGACTTCAGACAAC 0.612 4 78 --- --- --- --- PASS C12orf5 57103 broad.mit.edu 37 12 4461510 4461510 + Nonsense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr12:4461510G>T uc001qmp.2 + 6 545 c.466G>T c.(466-468)GGA>TGA p.G156* NM_020375 NP_065108 Q9NQ88 TIGAR_HUMAN TP53-induced glycolysis and apoptosis regulator 156 intracellular fructose-2,6-bisphosphate 2-phosphatase activity skin(1) 1 all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206) GTTTTCCCAAGGATCTCCAAG 0.363 10 33 --- --- --- --- PASS ZNF705A 440077 broad.mit.edu 37 12 8329842 8329842 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr12:8329842G>T uc001qud.1 + 5 638 c.566G>T c.(565-567)CGG>CTG p.R189L FAM66C_uc001que.3_5'Flank|FAM66C_uc001quf.3_5'Flank|FAM66C_uc009zgc.2_5'Flank|FAM66C_uc001qug.3_5'Flank NM_001004328 NP_001004328 Q6ZN79 Z705A_HUMAN zinc finger protein 705A 189 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Kidney(36;0.0877) CGCCTTAGACGGCACAAGATG 0.393 37 74 --- --- --- --- PASS GUCY2C 2984 broad.mit.edu 37 12 14832636 14832636 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr12:14832636C>A uc001rcd.2 - 6 922 c.785G>T c.(784-786)CGA>CTA p.R262L GUCY2C_uc009zhz.2_Missense_Mutation_p.R262L NM_004963 NP_004954 P25092 GUC2C_HUMAN guanylate cyclase 2C precursor 262 Extracellular (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity ovary(4)|skin(2) 6 AGCCACTGCTCGGTCACCCTT 0.418 4 63 --- --- --- --- PASS WBP11 51729 broad.mit.edu 37 12 14947584 14947584 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr12:14947584G>T uc001rci.2 - 7 769 c.608C>A c.(607-609)CCC>CAC p.P203H NM_016312 NP_057396 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 203 Pro-rich. mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding ovary(1)|lung(1) 2 TGGACCAGGGGGAGGGCCAGG 0.512 7 162 --- --- --- --- PASS STK38L 23012 broad.mit.edu 37 12 27450705 27450705 + Missense_Mutation SNP C T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr12:27450705C>T uc001rhr.2 + 2 251 c.52C>T c.(52-54)CGG>TGG p.R18W STK38L_uc001rhs.2_RNA|STK38L_uc010sjm.1_Intron NM_015000 NP_055815 Q9Y2H1 ST38L_HUMAN serine/threonine kinase 38 like 18 intracellular protein kinase cascade|regulation of cellular component organization actin cytoskeleton|cytoplasm actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|kidney(1) 5 Colorectal(261;0.0847) CAACCATACCCGGGAAAGAGT 0.403 11 53 --- --- --- --- PASS NELL2 4753 broad.mit.edu 37 12 45173639 45173639 + Missense_Mutation SNP A T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr12:45173639A>T uc001rog.2 - 4 1097 c.502T>A c.(502-504)TGC>AGC p.C168S NELL2_uc001rof.3_Missense_Mutation_p.C167S|NELL2_uc001roh.2_Missense_Mutation_p.C168S|NELL2_uc009zkd.2_Missense_Mutation_p.C167S|NELL2_uc010skz.1_Missense_Mutation_p.C218S|NELL2_uc010sla.1_Missense_Mutation_p.C191S|NELL2_uc001roi.1_Missense_Mutation_p.C168S|NELL2_uc010slb.1_Missense_Mutation_p.C167S|NELL2_uc001roj.2_Missense_Mutation_p.C168S NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 168 TSP N-terminal. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TACTTATTGCAGTCAATGTGT 0.398 13 61 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49443771 49443771 + Missense_Mutation SNP G C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr12:49443771G>C uc001rta.3 - 11 3600 c.3600C>G c.(3598-3600)ATC>ATG p.I1200M NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1200 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TGTCGGATTTGATGAGAGTGG 0.592 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 16 41 --- --- --- --- PASS BIN2 51411 broad.mit.edu 37 12 51685860 51685860 + Missense_Mutation SNP C A A rs150210505 TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr12:51685860C>A uc001ryg.2 - 10 1082 c.1030G>T c.(1030-1032)GCC>TCC p.A344S BIN2_uc009zlz.2_Missense_Mutation_p.A312S|BIN2_uc001ryh.2_Missense_Mutation_p.A220S|BIN2_uc010sng.1_Missense_Mutation_p.A318S NM_016293 NP_057377 Q9UBW5 BIN2_HUMAN bridging integrator 2 344 cytoplasm protein binding ovary(1) 1 TGGGCCTGGGCGGGGCCATTG 0.577 3 22 --- --- --- --- PASS MIR616 693201 broad.mit.edu 37 12 57913018 57913018 + RNA SNP G C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr12:57913018G>C hsa-mir-616|MI0003629 - c.25G>C DDIT3_uc001soi.2_Intron|DDIT3_uc009zps.2_Intron|DDIT3_uc009zpt.2_Intron 0 gtcactgaagggttttgagtg 0.000 4 24 --- --- --- --- PASS FRS2 10818 broad.mit.edu 37 12 69968637 69968637 + Nonsense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr12:69968637G>T uc001suy.2 + 10 1939 c.1429G>T c.(1429-1431)GAG>TAG p.E477* FRS2_uc001suz.2_Nonsense_Mutation_p.E477*|FRS2_uc009zrj.2_Nonsense_Mutation_p.E477*|FRS2_uc009zrk.2_Nonsense_Mutation_p.E477* NM_006654 NP_006645 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 477 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity prostate(1)|kidney(1) 2 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) GATAGACATCGAGAGAACTGC 0.493 5 113 --- --- --- --- PASS SLC41A2 84102 broad.mit.edu 37 12 105282956 105282956 + Splice_Site SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr12:105282956C>A uc001tla.2 - 4 903 c.736_splice c.e4-1 p.V246_splice NM_032148 NP_115524 Q96JW4 S41A2_HUMAN solute carrier family 41, member 2 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity ovary(1)|skin(1) 2 TTGCCTGAACCTAAAATTTTT 0.299 6 14 --- --- --- --- PASS IFT81 28981 broad.mit.edu 37 12 110656005 110656005 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr12:110656005G>T uc001tqi.2 + 19 2135 c.2005G>T c.(2005-2007)GGT>TGT p.G669C IFT81_uc001tqh.2_Missense_Mutation_p.G669C|IFT81_uc001tqj.2_RNA NM_001143779 NP_001137251 Q8WYA0 IFT81_HUMAN intraflagellar transport 81-like isoform 1 669 cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum ovary(1) 1 AATTCAGGAGGGTGGGGAGGA 0.388 18 56 --- --- --- --- PASS NOS1 4842 broad.mit.edu 37 12 117672370 117672370 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr12:117672370C>A uc001twm.1 - 21 3921 c.3235G>T c.(3235-3237)GGT>TGT p.G1079C NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 1079 FAD-binding FR-type. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GGAATGTTACCTAAAGCCGTG 0.592 5 29 --- --- --- --- PASS MPHOSPH8 54737 broad.mit.edu 37 13 20240600 20240600 + Silent SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr13:20240600C>A uc001umh.2 + 10 2064 c.2055C>A c.(2053-2055)CTC>CTA p.L685L MPHOSPH8_uc001umg.2_Silent_p.L685L NM_017520 NP_059990 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 685 ANK 3. cell cycle cytoplasm|nucleus 0 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) TCGTACGACTCGTAATTGAAT 0.443 6 259 --- --- --- --- PASS SOHLH2 54937 broad.mit.edu 37 13 36747888 36747888 + Missense_Mutation SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr13:36747888G>A uc001uvj.2 - 9 1030 c.941C>T c.(940-942)ACG>ATG p.T314M SOHLH2_uc010tei.1_Missense_Mutation_p.T391M NM_017826 NP_060296 Q9NX45 SOLH2_HUMAN spermatogenesis and oogenesis specific basic 314 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding 0 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) ATTCCAGCACGTATTAGTCAG 0.483 7 72 --- --- --- --- PASS COG3 83548 broad.mit.edu 37 13 46077414 46077414 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr13:46077414G>T uc001vak.2 + 14 1625 c.1524G>T c.(1522-1524)AAG>AAT p.K508N COG3_uc001vaj.1_Missense_Mutation_p.K508N|COG3_uc010tfv.1_Missense_Mutation_p.K345N|COG3_uc010aci.2_Missense_Mutation_p.K284N NM_031431 NP_113619 Q96JB2 COG3_HUMAN component of golgi transport complex 3 508 ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER cis-Golgi network|Golgi cisterna membrane|Golgi transport complex protein binding|protein transporter activity breast(1)|skin(1) 2 Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000124) AACAGAAGAAGGTACCTTCAG 0.378 5 50 --- --- --- --- PASS SLAIN1 122060 broad.mit.edu 37 13 78335084 78335084 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr13:78335084G>T uc010thy.1 + 6 1087 c.1044G>T c.(1042-1044)ATG>ATT p.M348I SLAIN1_uc001vkk.1_Missense_Mutation_p.M271I|SLAIN1_uc001vkl.1_Missense_Mutation_p.M227I|SLAIN1_uc010thz.1_Missense_Mutation_p.M226I|SLAIN1_uc010aex.1_Missense_Mutation_p.M113I|SLAIN1_uc010aey.1_Missense_Mutation_p.M113I|SLAIN1_uc001vkm.2_Missense_Mutation_p.M227I NM_144595 NP_653196 Q8ND83 SLAI1_HUMAN SLAIN motif family, member 1 B 490 ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0853) GCAGTAACATGCCTTTATCAA 0.522 16 43 --- --- --- --- PASS LIG4 3981 broad.mit.edu 37 13 108863508 108863508 + Nonsense_Mutation SNP T A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr13:108863508T>A uc001vqn.2 - 2 382 c.109A>T c.(109-111)AGA>TGA p.R37* LIG4_uc001vqo.2_Nonsense_Mutation_p.R37*|LIG4_uc010agg.1_5'UTR|LIG4_uc010agf.2_Nonsense_Mutation_p.R37*|LIG4_uc001vqp.2_Nonsense_Mutation_p.R37* NM_002312 NP_002303 P49917 DNLI4_HUMAN DNA ligase IV 37 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding 0 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) CTGAAGTGTCTGATTTTTTCT 0.363 NHEJ 10 17 --- --- --- --- PASS MYO16 23026 broad.mit.edu 37 13 109859134 109859134 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr13:109859134G>T uc001vqt.1 + 35 5653 c.5527G>T c.(5527-5529)GGG>TGG p.G1843W MYO16_uc010agk.1_Missense_Mutation_p.G1865W NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 1843 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GAAGCCGGAAGGGGCCTCCTG 0.582 21 14 --- --- --- --- PASS OR4M1 441670 broad.mit.edu 37 14 20248579 20248579 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr14:20248579C>A uc010tku.1 + 1 98 c.98C>A c.(97-99)TCC>TAC p.S33Y NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 33 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATATTTCTATCCTTCTATTTG 0.413 61 81 --- --- --- --- PASS RNASE12 493901 broad.mit.edu 37 14 21058511 21058511 + Silent SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr14:21058511G>T uc001vxt.2 - 1 472 c.372C>A c.(370-372)TCC>TCA p.S124S RNASE11_uc010ahv.2_5'Flank|RNASE11_uc010ahx.2_5'Flank|RNASE11_uc010ahw.2_5'Flank|RNASE11_uc001vxs.2_5'Flank|uc001vxu.1_5'Flank NM_001024822 NP_001019993 Q5GAN4 RNS12_HUMAN ribonuclease, RNase A family, 12 (non-active) 124 extracellular region nucleic acid binding|pancreatic ribonuclease activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(95;0.00238) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.013) CCTCTGTGGGGGAATAGTGGT 0.458 7 98 --- --- --- --- PASS CDH24 64403 broad.mit.edu 37 14 23519129 23519129 + Missense_Mutation SNP C T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr14:23519129C>T uc001wil.2 - 10 1761 c.1501G>A c.(1501-1503)GTG>ATG p.V501M CDH24_uc001wik.3_RNA|CDH24_uc010akf.2_Missense_Mutation_p.V463M NM_022478 NP_071923 Q86UP0 CAD24_HUMAN cadherin-like 24 isoform 1 501 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding central_nervous_system(1) 1 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) GCCACTTGCACGCGCGAGGCC 0.542 41 38 --- --- --- --- PASS PRKD1 5587 broad.mit.edu 37 14 30068938 30068938 + Missense_Mutation SNP C G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr14:30068938C>G uc001wqh.2 - 14 2172 c.1991G>C c.(1990-1992)GGA>GCA p.G664A NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 664 Protein kinase. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) CAGCATGTCTCCATGGAGTTT 0.378 9 39 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42357069 42357069 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr14:42357069C>A uc001wvm.2 + 3 2439 c.1241C>A c.(1240-1242)ACT>AAT p.T414N LRFN5_uc010ana.2_Missense_Mutation_p.T414N NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 414 Extracellular (Potential).|Fibronectin type-III. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) AATGGTGATACTAAATTGAGT 0.353 HNSCC(30;0.082) 9 16 --- --- --- --- PASS MIR329-1 574408 broad.mit.edu 37 14 101493144 101493144 + RNA SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr14:101493144G>T hsa-mir-329-1|MI0001725 + c.23G>T MIR329-2_hsa-mir-329-2|MI0001726_5'Flank|MIR494_hsa-mir-494|MI0003134_5'Flank|uc010txm.1_5'Flank 0 GAGGTTTTCTGGGTTTCTGTT 0.448 29 56 --- --- --- --- PASS GPR132 29933 broad.mit.edu 37 14 105518036 105518036 + Nonsense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr14:105518036G>T uc001yqd.2 - 4 1337 c.438C>A c.(436-438)TAC>TAA p.Y146* GPR132_uc001yqc.2_5'UTR|GPR132_uc001yqe.2_Nonsense_Mutation_p.Y137* NM_013345 NP_037477 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 146 Cytoplasmic (Potential). response to stress integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1) 3 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) TCTCCAGCGCGTACACCACGG 0.622 19 28 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106967470 106967470 + RNA SNP C T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr14:106967470C>T uc010tyt.1 - 201 c.8971G>A Parts of antibodies, mostly variable regions. 0 AGAAGACCCTCCAGGTCCAGT 0.498 36 51 --- --- --- --- PASS PYGO1 26108 broad.mit.edu 37 15 55838299 55838299 + Silent SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr15:55838299G>T uc010bfl.1 - 3 1238 c.1182C>A c.(1180-1182)ACC>ACA p.T394T PYGO1_uc002adf.1_Silent_p.T394T NM_015617 NP_056432 Q9Y3Y4 PYGO1_HUMAN pygopus homolog 1 394 PHD-type. Wnt receptor signaling pathway nucleus zinc ion binding ovary(1)|skin(1) 2 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) CAGCCATACAGGTATCACAGC 0.443 13 51 --- --- --- --- PASS ALDH1A2 8854 broad.mit.edu 37 15 58256106 58256106 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr15:58256106G>T uc002aex.2 - 9 1121 c.1063C>A c.(1063-1065)CCC>ACC p.P355T ALDH1A2_uc002aey.2_Missense_Mutation_p.P317T|ALDH1A2_uc010ugv.1_Missense_Mutation_p.P334T|ALDH1A2_uc010ugw.1_Missense_Mutation_p.P326T|ALDH1A2_uc002aew.2_Missense_Mutation_p.P259T NM_003888 NP_003879 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1A2 isoform 1 355 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TCAGTGGTGGGGTCAAAGGGA 0.527 21 32 --- --- --- --- PASS CILP 8483 broad.mit.edu 37 15 65489533 65489533 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr15:65489533C>A uc002aon.2 - 9 3272 c.3091G>T c.(3091-3093)GGC>TGC p.G1031C NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 1031 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 CGGCAGCTGCCCTGGGGGATG 0.577 13 32 --- --- --- --- PASS TLE3 7090 broad.mit.edu 37 15 70347520 70347520 + Silent SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr15:70347520G>A uc002asm.2 - 15 2574 c.1455C>T c.(1453-1455)CAC>CAT p.H485H TLE3_uc002ask.2_Silent_p.H412H|TLE3_uc002asl.2_Silent_p.H485H|TLE3_uc010ukd.1_Silent_p.H475H|TLE3_uc010bik.1_Silent_p.H66H|TLE3_uc010bil.1_Silent_p.H482H|TLE3_uc002asn.2_Silent_p.H473H|TLE3_uc002asp.2_Silent_p.H477H|TLE3_uc002aso.2_Silent_p.H480H NM_005078 NP_005069 Q04726 TLE3_HUMAN transducin-like enhancer protein 3 isoform a 485 WD 1. organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|protein binding lung(2) 2 CCACCTCCCCGTGGCTGAGTG 0.662 16 37 --- --- --- --- PASS FLYWCH2 114984 broad.mit.edu 37 16 2946558 2946558 + Silent SNP C T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr16:2946558C>T uc002csa.2 + 3 479 c.108C>T c.(106-108)CCC>CCT p.P36P FLYWCH2_uc010uwj.1_Silent_p.P36P|FLYWCH2_uc010uwk.1_Silent_p.P36P NM_138439 NP_612448 Q96CP2 FWCH2_HUMAN FLYWCH family member 2 36 0 CCAGGAAGCCCAGAAAGTTCT 0.642 15 75 --- --- --- --- PASS CIITA 4261 broad.mit.edu 37 16 10996609 10996609 + Nonsense_Mutation SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr16:10996609G>A uc002dai.3 + 8 856 c.723G>A c.(721-723)TGG>TGA p.W241* CIITA_uc002daj.3_Nonsense_Mutation_p.W242*|CIITA_uc002dak.3_Nonsense_Mutation_p.W192*|CIITA_uc002dag.2_Nonsense_Mutation_p.W241*|CIITA_uc002dah.2_Nonsense_Mutation_p.W193*|CIITA_uc010bup.1_Nonsense_Mutation_p.W241* NM_000246 NP_000237 P33076 C2TA_HUMAN class II transactivator 241 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1) 1 ATGGGCTCTGGCAAATCTCTG 0.582 T FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75 PMBL|Hodgkin Lymphona| 10 51 --- --- --- --- PASS RRN3 54700 broad.mit.edu 37 16 15180227 15180227 + Missense_Mutation SNP T C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr16:15180227T>C uc002dde.2 - 4 405 c.337A>G c.(337-339)ATA>GTA p.I113V PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_Missense_Mutation_p.I14V|RRN3_uc010uzq.1_Intron|RRN3_uc002ddf.1_Missense_Mutation_p.I113V NM_018427 NP_060897 Q9NYV6 RRN3_HUMAN RRN3 RNA polymerase I transcription factor 113 regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm ovary(1) 1 CTTACTAATATAATACTGATA 0.299 12 40 --- --- --- --- PASS ANKS4B 257629 broad.mit.edu 37 16 21245162 21245162 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr16:21245162C>A uc010bwp.1 + 1 147 c.104C>A c.(103-105)CCT>CAT p.P35H NM_145865 NP_665872 Q8N8V4 ANS4B_HUMAN harmonin-interacting ankyrin-repeat containing 35 ANK 1. ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0565) GGCATGACTCCTACTCTCTTG 0.463 7 168 --- --- --- --- PASS PLK1 5347 broad.mit.edu 37 16 23695281 23695281 + Nonsense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr16:23695281G>T uc002dlz.1 + 5 960 c.907G>T c.(907-909)GAG>TAG p.E303* NM_005030 NP_005021 P53350 PLK1_HUMAN polo-like kinase 1 303 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding lung(1)|skin(1) 2 GBM - Glioblastoma multiforme(48;0.0156) GCTTAATGACGAGTTCTTTAC 0.567 6 280 --- --- --- --- PASS SRCAP 10847 broad.mit.edu 37 16 30745064 30745064 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr16:30745064C>A uc002dze.1 + 29 6824 c.6439C>A c.(6439-6441)CAG>AAG p.Q2147K SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.Q1942K NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 2147 Helicase C-terminal. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) CATGGATGCTCAGGCCCAGGA 0.527 15 50 --- --- --- --- PASS FAM192A 80011 broad.mit.edu 37 16 57207687 57207687 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr16:57207687C>A uc010vhk.1 - 2 339 c.80G>T c.(79-81)AGG>ATG p.R27M FAM192A_uc002ekz.3_Missense_Mutation_p.R27M|FAM192A_uc002ekv.3_Translation_Start_Site|FAM192A_uc002ekw.3_Missense_Mutation_p.R27M|FAM192A_uc002ekx.3_Missense_Mutation_p.R27M|FAM192A_uc002eky.3_Missense_Mutation_p.R27M|FAM192A_uc010ccx.2_Missense_Mutation_p.R27M NM_024946 NP_079222 Q9GZU8 F192A_HUMAN NEFA-interacting nuclear protein NIP30 27 nucleus 0 TTCTTGCCTCCTTTTGCGCCG 0.363 7 80 --- --- --- --- PASS JPH3 57338 broad.mit.edu 37 16 87723839 87723839 + Missense_Mutation SNP C T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr16:87723839C>T uc002fkd.2 + 4 2127 c.1873C>T c.(1873-1875)CCC>TCC p.P625S JPH3_uc010vou.1_RNA NM_020655 NP_065706 Q8WXH2 JPH3_HUMAN junctophilin 3 625 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding ovary(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0287) GGAGACGCATCCCCAGAAAAG 0.657 4 8 --- --- --- --- PASS NLRP1 22861 broad.mit.edu 37 17 5421068 5421068 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr17:5421068G>T uc002gci.2 - 15 4610 c.4055C>A c.(4054-4056)CCA>CAA p.P1352Q NLRP1_uc002gcg.1_Missense_Mutation_p.P1356Q|NLRP1_uc002gck.2_Missense_Mutation_p.P1308Q|NLRP1_uc002gcj.2_Missense_Mutation_p.P1322Q|NLRP1_uc002gcl.2_Missense_Mutation_p.P1278Q|NLRP1_uc002gch.3_Missense_Mutation_p.P1308Q NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 1352 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) GGATTTACCTGGTTTCACCAA 0.398 5 69 --- --- --- --- PASS NEURL4 84461 broad.mit.edu 37 17 7224163 7224163 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr17:7224163C>A uc002gga.1 - 21 3447 c.3440G>T c.(3439-3441)GGG>GTG p.G1147V NEURL4_uc002gfy.1_5'Flank|GPS2_uc002gfz.1_5'Flank|NEURL4_uc002ggb.1_Missense_Mutation_p.G1145V NM_032442 NP_115818 Q96JN8 NEUL4_HUMAN neuralized homolog 4 isoform 1 1147 NHR 6. protein binding upper_aerodigestive_tract(1)|ovary(1) 2 CGTACGGTTCCCATTAGACAA 0.562 7 150 --- --- --- --- PASS EIF4A1 1973 broad.mit.edu 37 17 7480801 7480801 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr17:7480801G>T uc002gho.1 + 15 2089 c.764G>T c.(763-765)CGA>CTA p.R255L EIF4A1_uc002ghr.1_Missense_Mutation_p.R255L|EIF4A1_uc002ghq.1_Missense_Mutation_p.R255L|EIF4A1_uc002ghp.1_Missense_Mutation_p.R255L|SNORA67_uc010cml.1_5'Flank|CD68_uc002ghv.2_5'Flank|CD68_uc002ghu.2_5'Flank NM_001416 NP_001407 P60842 IF4A1_HUMAN eukaryotic translation initiation factor 4A 255 Helicase C-terminal. nuclear-transcribed mRNA poly(A) tail shortening cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity ovary(1) 1 AACGTGGAACGAGAGGTGGGG 0.557 4 39 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578407 7578407 + Missense_Mutation SNP G C C rs138729528 TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr17:7578407G>C uc002gim.2 - 5 717 c.523C>G c.(523-525)CGC>GGC p.R175G TP53_uc002gig.1_Missense_Mutation_p.R175G|TP53_uc002gih.2_Missense_Mutation_p.R175G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43G|TP53_uc010cng.1_Missense_Mutation_p.R43G|TP53_uc002gii.1_Missense_Mutation_p.R43G|TP53_uc010cnh.1_Missense_Mutation_p.R175G|TP53_uc010cni.1_Missense_Mutation_p.R175G|TP53_uc002gij.2_Missense_Mutation_p.R175G|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82G|TP53_uc002gio.2_Missense_Mutation_p.R43G|TP53_uc010vug.1_Missense_Mutation_p.R136G NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (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.R175H(721)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(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) TGGGGGCAGCGCCTCACAACC 0.657 111 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 25 --- --- --- --- PASS SCO1 6341 broad.mit.edu 37 17 10596167 10596167 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr17:10596167C>A uc002gmr.3 - 3 537 c.476G>T c.(475-477)TGG>TTG p.W159L SCO1_uc002gms.3_Intron NM_004589 NP_004580 O75880 SCO1_HUMAN cytochrome oxidase deficient homolog 1 159 cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly mitochondrial inner membrane copper ion binding 0 AATCAATAACCACTGACCCAA 0.458 5 56 --- --- --- --- PASS MYO15A 51168 broad.mit.edu 37 17 18023401 18023401 + Missense_Mutation SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr17:18023401G>A uc010vxh.1 + 2 1625 c.1287G>A c.(1285-1287)ATG>ATA p.M429I NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 429 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) CCCACGCCATGGATGACATCG 0.652 17 21 --- --- --- --- PASS CCDC144NL 339184 broad.mit.edu 37 17 20799191 20799191 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr17:20799191C>A uc002gyf.2 - 1 263 c.143G>T c.(142-144)GGC>GTC p.G48V uc002gyg.1_Intron|uc002gyh.1_Intron NM_001004306 NP_001004306 Q6NUI1 C144L_HUMAN coiled-coil domain containing 144 family, 48 0 GTAGGAGAAGCCCAAGGACCA 0.617 19 64 --- --- --- --- PASS MMP28 79148 broad.mit.edu 37 17 34100371 34100371 + Silent SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr17:34100371C>A uc002hjy.1 - 4 676 c.417G>T c.(415-417)CTG>CTT p.L139L MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA NM_024302 NP_077278 Q9H239 MMP28_HUMAN matrix metalloproteinase 28 isoform 1 139 proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GCCAGTTCACCAGGCGGTAGG 0.637 5 2 --- --- --- --- PASS GGNBP2 79893 broad.mit.edu 37 17 34937844 34937844 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr17:34937844G>T uc002hnb.2 + 9 1340 c.1091G>T c.(1090-1092)CGA>CTA p.R364L GGNBP2_uc002hna.2_Missense_Mutation_p.R364L|GGNBP2_uc002hnc.1_Missense_Mutation_p.R193L NM_024835 NP_079111 Q9H3C7 GGNB2_HUMAN zinc finger protein 403 364 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) GAAGAGGAACGAGTAAGAGAA 0.368 4 83 --- --- --- --- PASS KRT9 3857 broad.mit.edu 37 17 39724766 39724766 + Silent SNP G T T rs139934315 TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr17:39724766G>T uc002hxe.3 - 5 1230 c.1164C>A c.(1162-1164)CTC>CTA p.L388L JUP_uc010wfs.1_Intron NM_000226 NP_000217 P35527 K1C9_HUMAN keratin 9 388 Rod.|Coil 2. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|pancreas(1) 3 Breast(137;0.000307) CAACCTTGCTGAGCTGAGACT 0.552 7 239 --- --- --- --- PASS AARSD1 80755 broad.mit.edu 37 17 41103875 41103875 + Missense_Mutation SNP C G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr17:41103875C>G uc002icc.2 - 11 1048 c.1045G>C c.(1045-1047)GGT>CGT p.G349R AARSD1_uc002icd.2_Missense_Mutation_p.G462R|AARSD1_uc002ice.2_Missense_Mutation_p.G432R|AARSD1_uc002icf.2_Missense_Mutation_p.G523R|AARSD1_uc010whg.1_Missense_Mutation_p.G523R NM_025267 NP_079543 Q9BTE6 AASD1_HUMAN alanyl-tRNA synthetase domain containing 1 349 alanyl-tRNA aminoacylation cytoplasm alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding 0 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) AGTCCACCACCTTTCTCATCG 0.522 15 19 --- --- --- --- PASS OR4D2 124538 broad.mit.edu 37 17 56247485 56247485 + Missense_Mutation SNP A C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr17:56247485A>C uc010wnp.1 + 1 469 c.469A>C c.(469-471)ATT>CTT p.I157L NM_001004707 NP_001004707 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, 157 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 TGTCCACTCTATTGTCCAGCT 0.567 14 54 --- --- --- --- PASS TBC1D16 125058 broad.mit.edu 37 17 77925290 77925290 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr17:77925290G>T uc002jxj.2 - 5 1164 c.1048C>A c.(1048-1050)CAG>AAG p.Q350K TBC1D16_uc002jxh.2_5'Flank|TBC1D16_uc002jxi.2_5'Flank|TBC1D16_uc002jxk.1_5'Flank NM_019020 NP_061893 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 350 intracellular Rab GTPase activator activity 0 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) TTCCACTGCTGGAACACGTCA 0.632 5 79 --- --- --- --- PASS METTL4 64863 broad.mit.edu 37 18 2539011 2539011 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr18:2539011C>A uc002klh.3 - 9 2187 c.1407G>T c.(1405-1407)GAG>GAT p.E469D METTL4_uc010dkj.2_3'UTR NM_022840 NP_073751 Q8N3J2 METL4_HUMAN methyltransferase like 4 469 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process methyltransferase activity|nucleic acid binding kidney(1)|skin(1) 2 AGCTTCCAGACTCCACAGCAA 0.353 14 40 --- --- --- --- PASS KLHL14 57565 broad.mit.edu 37 18 30350180 30350180 + Silent SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr18:30350180C>A uc002kxm.1 - 2 763 c.375G>T c.(373-375)CTG>CTT p.L125L NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN kelch-like 14 125 BTB. cytosol|endoplasmic reticulum membrane ovary(1) 1 CCTGCAGCACCAGGTTGTTGA 0.567 5 64 --- --- --- --- PASS DTNA 1837 broad.mit.edu 37 18 32438301 32438301 + Missense_Mutation SNP C G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr18:32438301C>G uc010dmn.1 + 15 1505 c.1504C>G c.(1504-1506)CAG>GAG p.Q502E DTNA_uc010xbx.1_Missense_Mutation_p.Q252E|DTNA_uc002kxv.3_Missense_Mutation_p.Q445E|DTNA_uc002kxw.2_Missense_Mutation_p.Q445E|DTNA_uc010dmj.2_Missense_Mutation_p.Q442E|DTNA_uc002kxz.2_Missense_Mutation_p.Q442E|DTNA_uc002kxy.2_Missense_Mutation_p.Q442E|DTNA_uc010dml.2_Missense_Mutation_p.Q442E|DTNA_uc002kyb.3_Missense_Mutation_p.Q499E|DTNA_uc010dmm.2_Missense_Mutation_p.Q502E|DTNA_uc010xby.1_Missense_Mutation_p.Q192E|DTNA_uc010dmo.2_Missense_Mutation_p.Q124E|DTNA_uc002kyd.3_Missense_Mutation_p.Q124E|DTNA_uc010xbz.1_Missense_Mutation_p.Q211E|DTNA_uc010xca.1_Missense_Mutation_p.Q154E|DTNA_uc002kye.2_Missense_Mutation_p.Q150E NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 502 Potential. neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 ACAAGCTTCTCAGCCCACGCC 0.512 20 22 --- --- --- --- PASS ALPK2 115701 broad.mit.edu 37 18 56149153 56149153 + Nonsense_Mutation SNP T A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr18:56149153T>A uc002lhj.3 - 13 6629 c.6415A>T c.(6415-6417)AAA>TAA p.K2139* NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 2139 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 TGCTTCTGTTTCTGGTTGTTG 0.428 15 41 --- --- --- --- PASS CDH20 28316 broad.mit.edu 37 18 59174738 59174738 + Missense_Mutation SNP C A A rs148517362 TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr18:59174738C>A uc010dps.1 + 5 974 c.962C>A c.(961-963)GCC>GAC p.A321D CDH20_uc002lif.2_Missense_Mutation_p.A315D NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 321 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) GGTGCAGATGCCTTTGACATT 0.423 12 33 --- --- --- --- PASS SAFB2 9667 broad.mit.edu 37 19 5621405 5621405 + Silent SNP C T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr19:5621405C>T uc002mcd.2 - 2 401 c.189G>A c.(187-189)GCG>GCA p.A63A SAFB_uc010xiq.1_5'Flank|SAFB_uc002mcf.2_5'Flank|SAFB_uc002mcg.2_5'Flank|SAFB_uc002mce.3_5'Flank|SAFB_uc010xir.1_5'Flank|SAFB_uc010xis.1_5'Flank|SAFB_uc010xit.1_5'Flank|SAFB_uc010xiu.1_5'Flank|SAFB2_uc010xio.1_Silent_p.A63A|SAFB2_uc010xip.1_RNA NM_014649 NP_055464 Q14151 SAFB2_HUMAN scaffold attachment factor B2 63 SAP. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding 0 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) CTTCTTTAACCGCCTATTAGG 0.443 13 397 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9026256 9026256 + Nonsense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr19:9026256C>A uc002mkp.2 - 14 36934 c.36730G>T c.(36730-36732)GAG>TAG p.E12244* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12246 SEA 2.|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 ATGTCCTCCTCGTACTGCAGG 0.532 6 180 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9072230 9072230 + Silent SNP G C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr19:9072230G>C uc002mkp.2 - 3 15420 c.15216C>G c.(15214-15216)CTC>CTG p.L5072L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5074 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 GGCCAGAGGTGAGAAGTGAAG 0.478 28 98 --- --- --- --- PASS ZNF625 90589 broad.mit.edu 37 19 12256633 12256633 + Missense_Mutation SNP A C C TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr19:12256633A>C uc002mth.2 - 4 750 c.400T>G c.(400-402)TTG>GTG p.L134V ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Missense_Mutation_p.L168V NM_145233 NP_660276 Q96I27 ZN625_HUMAN zinc finger protein 625 134 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGACACATCAAGGCTTTCCCA 0.408 39 41 --- --- --- --- PASS FBXW9 84261 broad.mit.edu 37 19 12800824 12800824 + Silent SNP G A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr19:12800824G>A uc010dyx.2 - 6 1044 c.1044C>T c.(1042-1044)ACC>ACT p.T348T FBXW9_uc010xmp.1_RNA|uc002mul.1_3'UTR|FBXW9_uc002mum.1_Silent_p.T328T|FBXW9_uc002mun.1_Silent_p.T165T NM_032301 NP_115677 Q5XUX1 FBXW9_HUMAN F-box and WD-40 domain protein 9 358 WD 4. protein binding ovary(1) 1 CCACCACCAGGGTGTGGTCCT 0.682 9 18 --- --- --- --- PASS OR7A17 26333 broad.mit.edu 37 19 14991543 14991543 + Missense_Mutation SNP C G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr19:14991543C>G uc010xob.1 - 1 625 c.625G>C c.(625-627)GGT>CGT p.G209R NM_030901 NP_112163 O14581 OR7AH_HUMAN olfactory receptor, family 7, subfamily A, 209 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Ovarian(108;0.203) ACAAGGGGACCACCAGCCAGC 0.483 14 50 --- --- --- --- PASS LPAR2 9170 broad.mit.edu 37 19 19735130 19735130 + Nonsense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr19:19735130C>A uc002nnb.3 - 3 1130 c.991G>T c.(991-993)GGA>TGA p.G331* LPAR2_uc002nna.3_Nonsense_Mutation_p.G331*|LPAR2_uc002nnc.3_Nonsense_Mutation_p.G331* NM_004720 NP_004711 Q9HBW0 LPAR2_HUMAN lysophosphatidic acid receptor 2 331 Cytoplasmic (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration cell surface|integral to plasma membrane LIM domain binding|lipid binding ovary(1)|breast(1) 2 CTGGCACCTCCCTGGGCAGAG 0.622 6 106 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 30935742 30935742 + Missense_Mutation SNP A T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr19:30935742A>T uc002nsu.1 + 2 1411 c.1273A>T c.(1273-1275)AAC>TAC p.N425Y ZNF536_uc010edd.1_Missense_Mutation_p.N425Y NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 425 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GGCCCACGCCAACCTGTACTC 0.637 8 21 --- --- --- --- PASS SPTBN4 57731 broad.mit.edu 37 19 41071430 41071430 + Missense_Mutation SNP G C C rs139699793 byFrequency TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr19:41071430G>C uc002ony.2 + 28 6103 c.6017G>C c.(6016-6018)CGA>CCA p.R2006P SPTBN4_uc002onz.2_Missense_Mutation_p.R2006P|SPTBN4_uc010egx.2_Missense_Mutation_p.R749P NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 2006 Spectrin 17. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGCTGGGGCGATCTCTGCTG 0.632 10 8 --- --- --- --- PASS ZNF234 10780 broad.mit.edu 37 19 44660428 44660428 + Nonsense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr19:44660428G>T uc002oym.2 + 6 566 c.259G>T c.(259-261)GAG>TAG p.E87* ZNF234_uc002oyl.3_Nonsense_Mutation_p.E87* NM_006630 NP_006621 Q14588 ZN234_HUMAN zinc finger protein 234 87 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0435) AAGTGAGGTGGAGACTGTTCC 0.428 6 116 --- --- --- --- PASS POLD1 5424 broad.mit.edu 37 19 50909578 50909578 + Missense_Mutation SNP A T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr19:50909578A>T uc002psb.3 + 11 1438 c.1382A>T c.(1381-1383)CAG>CTG p.Q461L POLD1_uc002psc.3_Missense_Mutation_p.Q461L|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.Q461L NM_002691 NP_002682 P28340 DPOD1_HUMAN DNA-directed DNA polymerase delta 1 461 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) GACATGCTGCAGGTATGGGCG 0.662 DNA_polymerases_(catalytic_subunits) 5 18 --- --- --- --- PASS SIGLEC6 946 broad.mit.edu 37 19 52023372 52023372 + Silent SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr19:52023372G>T uc002pwy.2 - 8 1488 c.1326C>A c.(1324-1326)ACC>ACA p.T442T SIGLEC6_uc002pwz.2_Silent_p.T426T|SIGLEC6_uc002pxa.2_3'UTR|SIGLEC6_uc010ydb.1_Silent_p.T379T|SIGLEC6_uc010ydc.1_3'UTR|SIGLEC6_uc010eoz.1_3'UTR NM_001245 NP_001236 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 isoform 1 442 Cytoplasmic (Potential). cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus ovary(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) ACTCAGTGTCGGTGACCTTTG 0.473 38 65 --- --- --- --- PASS GP6 51206 broad.mit.edu 37 19 55539070 55539070 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr19:55539070C>A uc002qik.2 - 4 514 c.486G>T c.(484-486)AGG>AGT p.R162S GP6_uc002qil.2_Missense_Mutation_p.R162S|GP6_uc010esq.2_Missense_Mutation_p.R162S|RDH13_uc010esr.1_RNA NM_016363 NP_057447 Q9HCN6 GPVI_HUMAN glycoprotein VI (platelet) isoform 2 162 Ig-like C2-type 2.|Extracellular (Potential). enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation integral to plasma membrane collagen binding|transmembrane receptor activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.156) GBM - Glioblastoma multiforme(193;0.0515) GAAAACTAGCCCTGTACCATC 0.572 16 44 --- --- --- --- PASS NRSN2 80023 broad.mit.edu 37 20 333854 333854 + Missense_Mutation SNP A G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr20:333854A>G uc002wdi.3 + 4 728 c.190A>G c.(190-192)ATC>GTC p.I64V NRSN2_uc002wdj.2_RNA|NRSN2_uc002wdl.2_Intron NM_024958 NP_079234 Q9GZP1 NRSN2_HUMAN neurensin 2 64 integral to membrane|plasma membrane|transport vesicle 0 all_cancers(10;0.0834) TTCTCCCTAGATCAGCCTGTC 0.622 8 44 --- --- --- --- PASS XRN2 22803 broad.mit.edu 37 20 21367572 21367572 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr20:21367572G>T uc002wsf.1 + 29 2810 c.2715G>T c.(2713-2715)CAG>CAT p.Q905H XRN2_uc002wsg.1_Missense_Mutation_p.Q829H|XRN2_uc010zsk.1_Missense_Mutation_p.Q851H|XRN2_uc002wsh.1_Missense_Mutation_p.Q43H NM_012255 NP_036387 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 905 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding skin(1) 1 CAGCCTTCCAGCCAAACCAGT 0.527 4 49 --- --- --- --- PASS PREX1 57580 broad.mit.edu 37 20 47269940 47269940 + Missense_Mutation SNP C G G TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr20:47269940C>G uc002xtw.1 - 20 2328 c.2305G>C c.(2305-2307)GAG>CAG p.E769Q PREX1_uc002xtv.1_Missense_Mutation_p.E66Q NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 769 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) TGGAAGTGCTCCAGGACCTCA 0.597 49 94 --- --- --- --- PASS ZNF512B 57473 broad.mit.edu 37 20 62595205 62595205 + Silent SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr20:62595205G>T uc002yhl.1 - 9 1596 c.1542C>A c.(1540-1542)ACC>ACA p.T514T NM_020713 NP_065764 Q96KM6 Z512B_HUMAN zinc finger protein 512B 514 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) CCACGTTGCAGGTGGGGCAGA 0.652 6 86 --- --- --- --- PASS TUBA8 51807 broad.mit.edu 37 22 18609318 18609318 + Silent SNP C A A rs150232320 TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr22:18609318C>A uc002znv.1 + 4 646 c.573C>A c.(571-573)ACC>ACA p.T191T TUBA8_uc002znr.2_Silent_p.T125T|TUBA8_uc002znw.1_Silent_p.T215T|TUBA8_uc002znx.1_Silent_p.T38T NM_018943 NP_061816 Q9NY65 TBA8_HUMAN tubulin, alpha 8 191 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 TCCTGACCACCCACACCACAC 0.527 6 108 --- --- --- --- PASS CLDN5 7122 broad.mit.edu 37 22 19511188 19511188 + Silent SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr22:19511188G>T uc002zpu.2 - 2 1061 c.846C>A c.(844-846)CCC>CCA p.P282P CLDN5_uc010grr.2_Silent_p.P282P NM_003277 NP_003268 O00501 CLD5_HUMAN claudin 5 197 Cytoplasmic (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity 0 Colorectal(54;0.0993) AGTACTTCACGGGGAAGCTGA 0.711 3 5 --- --- --- --- PASS MYH9 4627 broad.mit.edu 37 22 36681312 36681312 + Silent SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr22:36681312G>T uc003apg.2 - 38 5569 c.5338C>A c.(5338-5340)CGG>AGG p.R1780R NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1780 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 AGCTGCTGCCGAGCATTCTCG 0.592 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 4 87 --- --- --- --- PASS SSTR3 6753 broad.mit.edu 37 22 37603528 37603528 + Silent SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr22:37603528G>T uc003ara.2 - 2 377 c.315C>A c.(313-315)GCC>GCA p.A105A SSTR3_uc003arb.2_Silent_p.A105A NM_001051 NP_001042 P32745 SSR3_HUMAN somatostatin receptor 3 105 Extracellular (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity lung(1) 1 AGTAGGACAGGGCGTTCTGGG 0.622 8 46 --- --- --- --- PASS RANGAP1 5905 broad.mit.edu 37 22 41652071 41652071 + Missense_Mutation SNP C T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr22:41652071C>T uc003azs.2 - 9 2497 c.1027G>A c.(1027-1029)GAG>AAG p.E343K RANGAP1_uc003azt.2_Missense_Mutation_p.E343K|RANGAP1_uc003azu.2_Missense_Mutation_p.E343K|RANGAP1_uc011aoz.1_Missense_Mutation_p.E288K NM_002883 NP_002874 P46060 RAGP1_HUMAN Ran GTPase activating protein 1 343 LRR 6. mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity 0 TCCAGCACCTCCTGAAGCTGT 0.607 9 38 --- --- --- --- PASS SMC1B 27127 broad.mit.edu 37 22 45795000 45795000 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr22:45795000C>A uc003bgc.2 - 6 1140 c.1088G>T c.(1087-1089)CGA>CTA p.R363L SMC1B_uc003bgd.2_Missense_Mutation_p.R363L|SMC1B_uc003bge.1_Missense_Mutation_p.R146L NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN SMC1 structural maintenance of chromosomes 363 Potential. chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding ovary(2) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TTCAATGTCTCGCTTTTTATG 0.353 4 81 --- --- --- --- PASS EDA2R 60401 broad.mit.edu 37 X 65824983 65824983 + Missense_Mutation SNP C A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chrX:65824983C>A uc004dwq.2 - 2 184 c.173G>T c.(172-174)TGT>TTT p.C58F EDA2R_uc004dwr.2_Missense_Mutation_p.C58F|EDA2R_uc004dws.2_Missense_Mutation_p.C58F|EDA2R_uc011mpb.1_RNA|EDA2R_uc011mpc.1_Intron|EDA2R_uc010nkt.1_Missense_Mutation_p.C58F|EDA2R_uc004dwt.1_Missense_Mutation_p.C58F NM_021783 NP_068555 Q9HAV5 TNR27_HUMAN X-linked ectodysplasin receptor 58 Extracellular (Potential).|TNFR-Cys 2. cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane tumor necrosis factor receptor activity upper_aerodigestive_tract(1) 1 GCAACTCTGACATCTGTGGTG 0.542 3 9 --- --- --- --- PASS IL1RAPL2 26280 broad.mit.edu 37 X 104440271 104440271 + Missense_Mutation SNP C A A rs146735893 TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chrX:104440271C>A uc004elz.1 + 3 953 c.197C>A c.(196-198)ACG>AAG p.T66K NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 66 Ig-like C2-type 1.|Extracellular (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 AACTATAGCACGGCCCAGAGC 0.468 9 17 --- --- --- --- PASS HTR2C 3358 broad.mit.edu 37 X 114141492 114141492 + Missense_Mutation SNP G T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chrX:114141492G>T uc004epu.1 + 6 1619 c.891G>T c.(889-891)AGG>AGT p.R297S HTR2C_uc010nqc.1_Missense_Mutation_p.R297S|HTR2C_uc004epv.1_3'UTR NM_000868 NP_000859 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C 297 Cytoplasmic (By similarity). cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity ovary(3) 3 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) GACGTCCTAGGGGCACCATGC 0.468 46 50 --- --- --- --- PASS SELT 51714 broad.mit.edu 37 3 150340184 150340184 + Frame_Shift_Del DEL T - - TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr3:150340184delT uc011bnx.1 + 3 234 c.150delT c.(148-150)GGTfs p.G50fs NM_016275 NP_057359 P62341 SELT_HUMAN selenoprotein T precursor 50 cell redox homeostasis|selenocysteine incorporation selenium binding 0 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TTTCCTGAGGTTATAGGCGGG 0.383 4 2 --- --- --- --- RASA1 5921 broad.mit.edu 37 5 86679568 86679570 + In_Frame_Del DEL TGA - - TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr5:86679568_86679570delTGA uc003kiw.2 + 21 2847_2849 c.2729_2731delTGA c.(2728-2733)CTGAAT>CAT p.910_911LN>H RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_In_Frame_Del_p.733_734LN>H|RASA1_uc011ctv.1_In_Frame_Del_p.743_744LN>H|RASA1_uc011ctw.1_In_Frame_Del_p.744_745LN>H|RASA1_uc010jaw.2_In_Frame_Del_p.732_733LN>H NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 910_911 Ras-GAP. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) CCTGCCATCCTGAATCCACGGAT 0.296 16 9 --- --- --- --- PSORS1C1 170679 broad.mit.edu 37 6 31107683 31107683 + Frame_Shift_Del DEL C - - TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr6:31107683delC uc003nsl.1 + 6 707 c.433delC c.(433-435)CCTfs p.P145fs PSORS1C1_uc010jsj.1_Frame_Shift_Del_p.P94fs|PSORS1C1_uc003nsn.1_RNA|PSORS1C2_uc003nso.3_5'Flank NM_014068 NP_054787 Q9UIG5 PS1C1_HUMAN SEEK1 protein 145 ovary(1) 1 CTCCCATTCTCCTTTTGGTCT 0.448 68 38 --- --- --- --- DTX3 196403 broad.mit.edu 37 12 58001040 58001040 + Frame_Shift_Del DEL C - - TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr12:58001040delC uc001sow.1 + 5 731 c.394delC c.(394-396)CCCfs p.P132fs DTX3_uc001sov.1_Frame_Shift_Del_p.P125fs|DTX3_uc001sox.1_Frame_Shift_Del_p.P125fs|DTX3_uc001soy.1_Frame_Shift_Del_p.P125fs|GEFT_uc009zpy.2_5'Flank NM_178502 NP_848597 Q8N9I9 DTX3_HUMAN deltex homolog 3 132 Pro-rich. Notch signaling pathway cytoplasm zinc ion binding breast(1)|central_nervous_system(1) 2 Melanoma(17;0.122) CCCACTTCTGCCCCCAGGAGC 0.547 5 5 --- --- --- --- Unknown 0 broad.mit.edu 37 12 65938069 65938069 + RNA DEL C - - TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr12:65938069delC uc010ssu.1 - 3 c.674delG Homo sapiens, clone IMAGE:5172510, mRNA. GAAAGACTGGCCTCAACTTCT 0.463 4 2 --- --- --- --- PHF11 51131 broad.mit.edu 37 13 50102723 50102723 + Frame_Shift_Del DEL A - - TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr13:50102723delA uc001vdb.2 + 10 1255 c.918delA c.(916-918)TTAfs p.L306fs PHF11_uc001vdc.2_Frame_Shift_Del_p.L267fs|PHF11_uc001vdd.2_RNA NM_001040443 NP_001035533 Q9UIL8 PHF11_HUMAN PHD finger protein 11 isoform a 306 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding 0 Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.38e-09) TTCAGGACTTAAAACAAACCT 0.343 32 23 --- --- --- --- OXGR1 27199 broad.mit.edu 37 13 97639814 97639815 + Frame_Shift_Ins INS - T T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr13:97639814_97639815insT uc001vmx.1 - 4 443_444 c.199_200insA c.(199-201)AGCfs p.S67fs OXGR1_uc010afr.1_Frame_Shift_Ins_p.S67fs NM_080818 NP_543008 Q96P68 OXGR1_HUMAN oxoglutarate (alpha-ketoglutarate) receptor 1 67 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1)|skin(1) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.186) GATGGTGCTGCTCTTCCAAGGT 0.470 13 13 --- --- --- --- CCDC57 284001 broad.mit.edu 37 17 80091962 80091963 + Frame_Shift_Ins INS - A A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 43be1a37-b18e-4e96-89e6-ed6ee1d8e65a 701bf715-e029-45b5-9c93-4f4a6c8e564d g.chr17:80091962_80091963insA uc002kdy.2 - 2 162_163 c.148_149insT c.(148-150)CATfs p.H50fs CCDC57_uc002kdx.1_Intron Q2TAC2 CCD57_HUMAN SubName: Full=cDNA FLJ23754 fis, clone HEP17288; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ovary(2) 2 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) AGATGTAAAATGGGGCTGCACC 0.500 4 2 --- --- --- ---