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 CCDC27 148870 broad.mit.edu 37 1 3679887 3679887 + Silent SNP G A A rs141116417 byFrequency TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr1:3679887G>A uc001akv.2 + 7 1251 c.1170G>A c.(1168-1170)CCG>CCA p.P390P NM_152492 NP_689705 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 390 Glu-rich. skin(1) 1 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) gggagctgccggaggaagagg 0.368 37 27 --- --- --- --- PASS SLC2A5 6518 broad.mit.edu 37 1 9099965 9099965 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr1:9099965G>A uc001apo.2 - 7 1071 c.779C>T c.(778-780)GCG>GTG p.A260V SLC2A5_uc010nzy.1_Missense_Mutation_p.A201V|SLC2A5_uc010nzz.1_Missense_Mutation_p.A145V|SLC2A5_uc010oaa.1_Missense_Mutation_p.A216V|SLC2A5_uc010oab.1_Missense_Mutation_p.A260V NM_003039 NP_003030 P22732 GTR5_HUMAN solute carrier family 2 (facilitated 260 Cytoplasmic (Potential). carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity pancreas(2)|ovary(1) 3 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GATGAAGCCCGCGGCCTTCTC 0.677 28 47 --- --- --- --- PASS AHDC1 27245 broad.mit.edu 37 1 27877769 27877769 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr1:27877769C>A uc009vsy.2 - 6 1827 c.858G>T c.(856-858)CAG>CAT p.Q286H AHDC1_uc009vsz.1_Missense_Mutation_p.Q286H|AHDC1_uc001boh.1_Missense_Mutation_p.Q159H NM_001029882 NP_001025053 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 286 Pro-rich. DNA binding central_nervous_system(1) 1 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GCTCTAGTGCCTGCGGGTCCA 0.716 36 62 --- --- --- --- PASS SPOCD1 90853 broad.mit.edu 37 1 32262312 32262312 + Missense_Mutation SNP A G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr1:32262312A>G uc001bts.1 - 10 2208 c.2150T>C c.(2149-2151)CTG>CCG p.L717P SPOCD1_uc001btt.2_Missense_Mutation_p.L23P|SPOCD1_uc001btu.2_Missense_Mutation_p.L717P|SPOCD1_uc001btv.2_Missense_Mutation_p.L210P|SPOCD1_uc001btw.1_Missense_Mutation_p.L61P NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 717 TFIIS central. transcription, DNA-dependent ovary(5)|breast(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) AATGATATTCAGGCCCTGAAG 0.567 4 417 --- --- --- --- PASS SLC1A7 6512 broad.mit.edu 37 1 53555552 53555552 + Silent SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr1:53555552G>T uc001cuy.2 - 9 1449 c.1281C>A c.(1279-1281)CTC>CTA p.L427L SLC1A7_uc001cux.2_Silent_p.L80L NM_006671 NP_006662 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), 427 Helical; (Potential). integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity ovary(2)|large_intestine(1) 3 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) CCATGGTGACGAGGCCGGCCT 0.627 120 117 --- --- --- --- PASS SGIP1 84251 broad.mit.edu 37 1 67199524 67199524 + Silent SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr1:67199524C>A uc001dcr.2 + 21 2209 c.1992C>A c.(1990-1992)CCC>CCA p.P664P SGIP1_uc010opd.1_Silent_p.P264P|SGIP1_uc001dcs.2_Silent_p.P264P|SGIP1_uc001dct.2_Silent_p.P266P|SGIP1_uc009wat.2_Silent_p.P458P|SGIP1_uc001dcu.2_Silent_p.P169P NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 664 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 AACAAAAACCCCAGGCTACAT 0.358 97 118 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75055689 75055689 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr1:75055689C>T uc001dgg.2 - 12 2021 c.1802G>A c.(1801-1803)GGG>GAG p.G601E uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.G395E NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 601 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TTCCCTGTCCCCCACTGCAGA 0.433 89 67 --- --- --- --- PASS SORT1 6272 broad.mit.edu 37 1 109912202 109912202 + Missense_Mutation SNP C G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr1:109912202C>G uc001dxm.1 - 2 365 c.316G>C c.(316-318)GAT>CAT p.D106H SORT1_uc010ovi.1_5'UTR|SORT1_uc009wfb.2_5'UTR NM_002959 NP_002950 Q99523 SORT_HUMAN sortilin 1 preproprotein 106 Extracellular (Potential). endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled ovary(1) 1 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) CTGAGATCATCAAACACATGC 0.378 7 92 --- --- --- --- PASS TCHH 7062 broad.mit.edu 37 1 152080892 152080892 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr1:152080892C>T uc001ezp.2 - 2 4801 c.4801G>A c.(4801-4803)GAA>AAA p.E1601K TCHH_uc009wne.1_Missense_Mutation_p.E1601K NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1601 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGCTGCTGTTCGTCCTCCATG 0.562 6 254 --- --- --- --- PASS ARHGEF2 9181 broad.mit.edu 37 1 155927613 155927613 + Missense_Mutation SNP T C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr1:155927613T>C uc001fmt.2 - 13 1724 c.1606A>G c.(1606-1608)AAA>GAA p.K536E ARHGEF2_uc001fmr.2_Missense_Mutation_p.K508E|ARHGEF2_uc001fms.2_Missense_Mutation_p.K535E|ARHGEF2_uc001fmu.2_Missense_Mutation_p.K580E NM_001162383 NP_001155855 Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor 2 536 PH. actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding ovary(1) 1 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) AACATCCCTTTCTCCTGGTTG 0.552 24 109 --- --- --- --- PASS INSRR 3645 broad.mit.edu 37 1 156818779 156818779 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr1:156818779C>A uc010pht.1 - 7 1759 c.1505G>T c.(1504-1506)CGC>CTC p.R502L NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 502 Fibronectin type-III 1. 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) GCGCTCCCAGCGTAGCAGGAT 0.567 10 18 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158646059 158646059 + Silent SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr1:158646059C>T uc001fst.1 - 8 1183 c.984G>A c.(982-984)GAG>GAA p.E328E NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 328 Spectrin 4. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GTGTCAGCTTCTCTGCTTTAG 0.498 93 411 --- --- --- --- PASS DNM3 26052 broad.mit.edu 37 1 171958143 171958143 + Missense_Mutation SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr1:171958143G>T uc001gie.2 + 4 620 c.444G>T c.(442-444)CAG>CAT p.Q148H DNM3_uc001gid.3_Missense_Mutation_p.Q148H|DNM3_uc009wwb.2_Missense_Mutation_p.Q148H|DNM3_uc001gif.2_Missense_Mutation_p.Q148H NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN dynamin 3 isoform a 148 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding breast(1) 1 TGGGAGATCAGCCACCAGATA 0.413 18 17 --- --- --- --- PASS DNM3 26052 broad.mit.edu 37 1 172357850 172357850 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr1:172357850G>A uc001gie.2 + 20 2599 c.2423G>A c.(2422-2424)CGT>CAT p.R808H DNM3_uc001gif.2_Missense_Mutation_p.R804H|DNM3_uc001gih.1_Missense_Mutation_p.R164H NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN dynamin 3 isoform a 814 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding breast(1) 1 GTCCCATTCCGTCCAGGCCCA 0.647 17 29 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176709266 176709266 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr1:176709266G>A uc001gkz.2 + 14 5249 c.4085G>A c.(4084-4086)CGC>CAC p.R1362H PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1362 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 ACATCCTCCCGCATTGGTCTT 0.507 25 158 --- --- --- --- PASS IARS2 55699 broad.mit.edu 37 1 220315157 220315157 + Silent SNP A G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr1:220315157A>G uc001hmc.2 + 20 2531 c.2427A>G c.(2425-2427)GAA>GAG p.E809E IARS2_uc001hmd.2_Silent_p.E145E NM_018060 NP_060530 Q9NSE4 SYIM_HUMAN mitochondrial isoleucine tRNA synthetase 809 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) TCTATTGTGAAAAGGAAAATG 0.413 8 454 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21230881 21230881 + Silent SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:21230881G>A uc002red.2 - 26 8987 c.8859C>T c.(8857-8859)CCC>CCT p.P2953P NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2953 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AGGAAGTGAGGGGTCCTTCTA 0.423 67 469 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21231883 21231883 + Silent SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:21231883G>A uc002red.2 - 26 7985 c.7857C>T c.(7855-7857)GTC>GTT p.V2619V NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2619 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTGTTAGGGGGACTATAAAAT 0.413 84 261 --- --- --- --- PASS WDR43 23160 broad.mit.edu 37 2 29145784 29145784 + Splice_Site SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:29145784G>A uc002rmo.2 + 7 882 c.850_splice c.e7-1 p.P284_splice NM_015131 NP_055946 Q15061 WDR43_HUMAN WD repeat domain 43 nucleolus ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) TTTTCTTTTAGCCTGTCAAGT 0.363 20 59 --- --- --- --- PASS WDR43 23160 broad.mit.edu 37 2 29152477 29152477 + Silent SNP T C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:29152477T>C uc002rmo.2 + 11 1370 c.1338T>C c.(1336-1338)GAT>GAC p.D446D NM_015131 NP_055946 Q15061 WDR43_HUMAN WD repeat domain 43 446 nucleolus ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) GAGCAATGGATATAGACACAC 0.378 38 32 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 50463966 50463966 + Missense_Mutation SNP G C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:50463966G>C uc010fbp.2 - 2 1209 c.402C>G c.(400-402)GAC>GAG p.D134E NRXN1_uc002rxb.3_Missense_Mutation_p.D841E|NRXN1_uc010fbq.2_Missense_Mutation_p.D1209E|NRXN1_uc002rxe.3_Missense_Mutation_p.D1169E|NRXN1_uc002rxc.1_RNA NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 134 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CTGAAGAACTGTCCACTCGCA 0.418 65 76 --- --- --- --- PASS SPTBN1 6711 broad.mit.edu 37 2 54856622 54856622 + Missense_Mutation SNP A T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:54856622A>T uc002rxu.2 + 14 2600 c.2351A>T c.(2350-2352)AAG>ATG p.K784M SPTBN1_uc002rxv.1_Missense_Mutation_p.K784M|SPTBN1_uc002rxx.2_Missense_Mutation_p.K771M NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 784 Spectrin 5. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) TCTCTGGTCAAGAAACACAAG 0.567 102 313 --- --- --- --- PASS C2orf63 130162 broad.mit.edu 37 2 55436644 55436644 + Missense_Mutation SNP C G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:55436644C>G uc002ryi.2 - 7 1056 c.710G>C c.(709-711)AGA>ACA p.R237T C2orf63_uc002ryh.2_Intron|C2orf63_uc002ryj.2_Missense_Mutation_p.R115T NM_152385 NP_689598 Q8NHS4 CB063_HUMAN hypothetical protein LOC130162 isoform 1 237 binding ovary(2)|central_nervous_system(1) 3 LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189) TATCTGCAGTCTTTGATGACT 0.313 6 356 --- --- --- --- PASS MTHFD2 10797 broad.mit.edu 37 2 74437170 74437170 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:74437170C>T uc002skk.2 + 5 743 c.664C>T c.(664-666)CCC>TCC p.P222S MTHFD2_uc002skj.2_Missense_Mutation_p.P120S|MTHFD2_uc010yro.1_Missense_Mutation_p.P120S|MTHFD2_uc010ffb.2_Missense_Mutation_p.P181S|MTHFD2_uc010yrp.1_Missense_Mutation_p.P58S NM_006636 NP_006627 P13995 MTDC_HUMAN methylenetetrahydrofolate dehydrogenase 2 222 folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding 0 NADH(DB00157)|Tetrahydrofolic acid(DB00116) GCATGAACGTCCCGGAGGTAA 0.463 25 62 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80101302 80101302 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:80101302G>A uc010ysh.1 + 5 691 c.686G>A c.(685-687)CGC>CAC p.R229H CTNNA2_uc010yse.1_Missense_Mutation_p.R229H|CTNNA2_uc010ysf.1_Missense_Mutation_p.R229H|CTNNA2_uc010ysg.1_Missense_Mutation_p.R229H NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 229 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 GCATTTCTCCGCCACCCAGAT 0.572 13 116 --- --- --- --- PASS CD8B 926 broad.mit.edu 37 2 87085229 87085229 + Silent SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:87085229G>A uc002srz.2 - 2 404 c.354C>T c.(352-354)ATC>ATT p.I118I RMND5A_uc002srs.3_Intron|CD8B_uc002srw.2_Silent_p.I118I|CD8B_uc002srx.2_Silent_p.I118I|CD8B_uc002sry.2_Silent_p.I118I|CD8B_uc010fgt.2_Silent_p.I118I|CD8B_uc002ssa.2_Silent_p.I118I|CD8B_uc010yto.1_Silent_p.I118I NM_004931 NP_004922 P10966 CD8B_HUMAN CD8b antigen isoform 5 precursor 118 Ig-like V-type.|Extracellular (Potential). immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction early endosome|extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding upper_aerodigestive_tract(1)|skin(1) 2 GGCTCCCGACGATCATGCAGA 0.468 23 468 --- --- --- --- PASS C2orf55 343990 broad.mit.edu 37 2 99449396 99449396 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:99449396C>T uc002szf.1 - 4 598 c.304G>A c.(304-306)GGA>AGA p.G102R NM_207362 NP_997245 Q6NV74 CB055_HUMAN hypothetical protein LOC343990 102 0 GCGTCCTGTCCGGACTCAGGA 0.547 12 778 --- --- --- --- PASS EIF5B 9669 broad.mit.edu 37 2 99977788 99977788 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:99977788G>A uc002tab.2 + 4 608 c.424G>A c.(424-426)GAT>AAT p.D142N NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 142 Poly-Asp. regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 TGATGATGATGATTTTAACAA 0.333 14 318 --- --- --- --- PASS AFF3 3899 broad.mit.edu 37 2 100170874 100170874 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:100170874C>T uc002tag.2 - 23 3694 c.3458G>A c.(3457-3459)CGC>CAC p.R1153H AFF3_uc002taf.2_Missense_Mutation_p.R1178H NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 1153 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 CTGGTGGATGCGCTGTGGGAT 0.632 5 358 --- --- --- --- PASS GPR17 2840 broad.mit.edu 37 2 128408404 128408404 + Missense_Mutation SNP T C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:128408404T>C uc010yzn.1 + 4 790 c.179T>C c.(178-180)ATG>ACG p.M60T LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.M60T|GPR17_uc010yzo.1_Missense_Mutation_p.M32T|GPR17_uc002tpd.2_Missense_Mutation_p.M32T NM_001161415 NP_001154887 Q13304 GPR17_HUMAN G protein-coupled receptor 17 isoform a 60 Extracellular (Potential). integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled 0 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) ctggagaacatgctgttcgcc 0.154 OREG0014966 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 111 185 --- --- --- --- PASS LCT 3938 broad.mit.edu 37 2 136555660 136555660 + Missense_Mutation SNP T C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:136555660T>C uc002tuu.1 - 13 4926 c.4915A>G c.(4915-4917)AAT>GAT p.N1639D NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1639 Extracellular (Potential).|4.|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) ATCACCTCATTGTAATCTCCA 0.582 OREG0014998 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 97 145 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141526894 141526894 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:141526894C>A uc002tvj.1 - 35 6618 c.5646G>T c.(5644-5646)ATG>ATT p.M1882I NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1882 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GAACAGAGTACATAAGAAATG 0.383 TSP Lung(27;0.18) 35 50 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141625227 141625227 + Missense_Mutation SNP C G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:141625227C>G uc002tvj.1 - 27 5483 c.4511G>C c.(4510-4512)AGT>ACT p.S1504T LRP1B_uc010fnl.1_Missense_Mutation_p.S686T NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1504 Extracellular (Potential).|LDL-receptor class B 13. 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) CTGAATCACACTGACATTCTG 0.478 TSP Lung(27;0.18) 29 258 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141751623 141751623 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:141751623C>A uc002tvj.1 - 16 3557 c.2585G>T c.(2584-2586)TGG>TTG p.W862L LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 862 Extracellular (Potential).|LDL-receptor class A 3. 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) ATCACATTTCCACCGAGCTTG 0.428 TSP Lung(27;0.18) 52 135 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152500339 152500339 + Missense_Mutation SNP T A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:152500339T>A uc010fnx.2 - 57 8140 c.7949A>T c.(7948-7950)CAG>CTG p.Q2650L NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 2650 Nebulin 71. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CACATCGCTCTGGAGGTCATA 0.478 89 162 --- --- --- --- PASS CACNB4 785 broad.mit.edu 37 2 152727093 152727093 + Silent SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:152727093C>T uc002tya.2 - 8 719 c.651G>A c.(649-651)CCG>CCA p.P217P CACNB4_uc002txy.2_Silent_p.P183P|CACNB4_uc002txz.2_Silent_p.P199P|CACNB4_uc010fnz.2_Silent_p.P217P|CACNB4_uc002tyb.2_Silent_p.P183P NM_000726 NP_000717 O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 217 axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) GACGCATTGACGGTACAACAT 0.498 11 38 --- --- --- --- PASS GALNT13 114805 broad.mit.edu 37 2 154996876 154996876 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:154996876C>A uc002tyr.3 + 4 736 c.169C>A c.(169-171)CCA>ACA p.P57T GALNT13_uc002tyt.3_Missense_Mutation_p.P57T|GALNT13_uc010foc.1_5'UTR NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 57 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 CCAAGAAGGGCCAGGAGAAAT 0.358 6 108 --- --- --- --- PASS SLC4A10 57282 broad.mit.edu 37 2 162661006 162661006 + Missense_Mutation SNP A G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:162661006A>G uc002ubx.3 + 3 362 c.178A>G c.(178-180)AAA>GAA p.K60E SLC4A10_uc010fpa.1_Missense_Mutation_p.K72E|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.K60E|SLC4A10_uc010zcs.1_Missense_Mutation_p.K71E NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 60 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 GGGAGGAAGAAAAAGCCATCG 0.438 10 48 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170062966 170062966 + Missense_Mutation SNP T G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:170062966T>G uc002ues.2 - 39 7477 c.7264A>C c.(7264-7266)ATG>CTG p.M2422L NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2422 Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCTAGAGACATGACAGTTCTT 0.413 74 128 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179474028 179474028 + Nonsense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:179474028G>A uc010zfg.1 - 222 44529 c.44305C>T c.(44305-44307)CGA>TGA p.R14769* uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.R8464*|TTN_uc010zfi.1_Nonsense_Mutation_p.R8397*|TTN_uc010zfj.1_Nonsense_Mutation_p.R8272* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15696 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) AGAGAATCTCGGACGCGTAGC 0.453 21 30 --- --- --- --- PASS CCDC141 285025 broad.mit.edu 37 2 179736925 179736925 + Missense_Mutation SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:179736925G>T uc002unf.1 - 3 346 c.289C>A c.(289-291)CTT>ATT p.L97I NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 97 Potential. protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) GTGGCTTTAAGCTGCCATGCC 0.443 10 69 --- --- --- --- PASS DNAJC10 54431 broad.mit.edu 37 2 183608387 183608387 + Silent SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:183608387G>A uc002uow.1 + 14 1669 c.1254G>A c.(1252-1254)CCG>CCA p.P418P DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Silent_p.P372P|DNAJC10_uc010fro.1_RNA NM_018981 NP_061854 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 418 apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding ovary(1)|large_intestine(1)|breast(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TTTTTCAGCCGTCTCTAGCAG 0.333 11 233 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196681528 196681528 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:196681528C>A uc002utj.3 - 51 9686 c.9585G>T c.(9583-9585)AAG>AAT p.K3195N NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3195 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TGGTGTCAATCTTTTTCTCTG 0.418 16 132 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196729055 196729055 + Missense_Mutation SNP G C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:196729055G>C uc002utj.3 - 41 7425 c.7324C>G c.(7324-7326)CGC>GGC p.R2442G NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2442 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TCCCGCTGGCGATCTAACTGA 0.448 9 121 --- --- --- --- PASS MDH1B 130752 broad.mit.edu 37 2 207629992 207629992 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:207629992C>T uc002vbs.2 - 1 59 c.4G>A c.(4-6)GCC>ACC p.A2T MDH1B_uc010ziw.1_RNA|MDH1B_uc010fui.2_Missense_Mutation_p.A2T|MDH1B_uc010fuj.2_5'UTR|MDH1B_uc002vbt.2_RNA|FASTKD2_uc002vbu.2_5'Flank|FASTKD2_uc002vbv.2_5'Flank|FASTKD2_uc002vbx.2_5'Flank|FASTKD2_uc002vbw.1_5'Flank NM_001039845 NP_001034934 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 2 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity ovary(3)|kidney(1) 4 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) ACGAATTTGGCCATGGTCGAG 0.647 4 150 --- --- --- --- PASS XRCC5 7520 broad.mit.edu 37 2 216981498 216981498 + Missense_Mutation SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:216981498G>T uc002vfy.2 + 3 392 c.252G>T c.(250-252)ATG>ATT p.M84I XRCC5_uc002vfz.2_5'Flank NM_021141 NP_066964 P13010 XRCC5_HUMAN ATP-dependent DNA helicase II 84 double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding lung(1)|kidney(1) 2 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) GACATCTGATGCTACCAGATT 0.438 Direct_reversal_of_damage|NHEJ 122 227 --- --- --- --- PASS SPEG 10290 broad.mit.edu 37 2 220342650 220342650 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:220342650G>A uc010fwg.2 + 22 4850 c.4850G>A c.(4849-4851)CGC>CAC p.R1617H NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 1617 Protein kinase 1. 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) TACTTGCGGCGCATAGTGGAG 0.652 6 516 --- --- --- --- PASS ANO7 50636 broad.mit.edu 37 2 242149889 242149889 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:242149889C>T uc002wax.2 + 15 1730 c.1627C>T c.(1627-1629)CGC>TGC p.R543C NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 543 Extracellular (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 TTAGGCCTCTCGCATCGCCAG 0.637 50 104 --- --- --- --- PASS TADA3 10474 broad.mit.edu 37 3 9831550 9831550 + Missense_Mutation SNP T G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr3:9831550T>G uc003bsx.1 - 3 853 c.305A>C c.(304-306)AAG>ACG p.K102T TADA3_uc010hcn.1_Missense_Mutation_p.K102T|TADA3_uc003bsy.2_Missense_Mutation_p.K102T|ARPC4_uc003bsz.1_5'Flank|ARPC4_uc003bta.1_5'Flank|ARPC4_uc003btb.1_5'Flank|ARPC4_uc003btc.1_5'Flank NM_006354 NP_006345 O75528 TADA3_HUMAN transcriptional adaptor 3 isoform a 102 estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity 0 TTTCTGCTTCTTGGGCTTCCC 0.552 107 141 --- --- --- --- PASS SCN5A 6331 broad.mit.edu 37 3 38592834 38592834 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr3:38592834C>T uc003cio.2 - 28 5223 c.5029G>A c.(5029-5031)GCC>ACC p.A1677T SCN5A_uc003cin.2_Missense_Mutation_p.A1676T|SCN5A_uc003cil.3_Missense_Mutation_p.A1677T|SCN5A_uc010hhi.2_Missense_Mutation_p.A1659T|SCN5A_uc010hhk.2_Missense_Mutation_p.A1644T|SCN5A_uc011ayr.1_Missense_Mutation_p.A1623T NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 1677 Helical; Name=S5 of repeat IV; (Potential). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GCGAAGTTGGCCATGCCAAAG 0.552 7 891 --- --- --- --- PASS SCN10A 6336 broad.mit.edu 37 3 38740051 38740051 + Silent SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr3:38740051G>A uc003ciq.2 - 27 4660 c.4660C>T c.(4660-4662)CTG>TTG p.L1554L NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1554 IV.|Helical; Name=S3 of repeat IV; (Potential). sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GAAAAAATCAGGCCTTTAAAA 0.443 73 246 --- --- --- --- PASS ULK4 54986 broad.mit.edu 37 3 41439615 41439615 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr3:41439615C>A uc003ckv.3 - 35 3834 c.3633G>T c.(3631-3633)GAG>GAT p.E1211D NM_017886 NP_060356 Q96C45 ULK4_HUMAN unc-51-like kinase 4 1211 ATP binding|protein serine/threonine kinase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.214) CCTTTGGGTCCTCCTTGGATG 0.493 222 188 --- --- --- --- PASS RTP3 83597 broad.mit.edu 37 3 46542119 46542119 + Missense_Mutation SNP C G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr3:46542119C>G uc003cps.1 + 2 497 c.429C>G c.(427-429)ATC>ATG p.I143M NM_031440 NP_113628 Q9BQQ7 RTP3_HUMAN transmembrane protein 7 143 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) TCAAGGACATCTCTCTTGAAG 0.483 117 324 --- --- --- --- PASS CACNA1D 776 broad.mit.edu 37 3 53787697 53787697 + Silent SNP A T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr3:53787697A>T uc003dgv.3 + 29 3937 c.3774A>T c.(3772-3774)GCA>GCT p.A1258A CACNA1D_uc003dgu.3_Silent_p.A1278A|CACNA1D_uc003dgy.3_Silent_p.A1258A|CACNA1D_uc003dgw.3_Silent_p.A925A|CACNA1D_uc003dgx.1_Silent_p.A406A NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 1258 IV.|Helical; Name=S2 of repeat IV; (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) AAGTCATCGCATTTAAGCCTA 0.458 45 89 --- --- --- --- PASS ZBTB11 27107 broad.mit.edu 37 3 101390001 101390001 + Missense_Mutation SNP T A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr3:101390001T>A uc003dve.3 - 3 981 c.751A>T c.(751-753)AGT>TGT p.S251C ZBTB11_uc003dvf.2_3'UTR NM_014415 NP_055230 O95625 ZBT11_HUMAN zinc finger protein ZNF-U69274 251 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GCCTCATGACTGGAAACAGCT 0.368 26 143 --- --- --- --- PASS MYH15 22989 broad.mit.edu 37 3 108124257 108124257 + Missense_Mutation SNP A T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr3:108124257A>T uc003dxa.1 - 34 4781 c.4724T>A c.(4723-4725)CTT>CAT p.L1575H NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 1575 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 CAAGAGTTCAAGCTGGAAATG 0.318 26 59 --- --- --- --- PASS KIAA2018 205717 broad.mit.edu 37 3 113374483 113374483 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr3:113374483G>A uc003eam.2 - 7 6457 c.6046C>T c.(6046-6048)CTC>TTC p.L2016F KIAA2018_uc003eal.2_Missense_Mutation_p.L1960F NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 2016 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 CCAGTAGAGAGAGGAAGATGG 0.463 28 91 --- --- --- --- PASS PRKCI 5584 broad.mit.edu 37 3 170016900 170016900 + Splice_Site SNP T G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr3:170016900T>G uc003fgs.2 + 17 1941 c.1703_splice c.e17+2 p.D568_splice PRKCI_uc003fgt.2_Splice_Site_p.D123_splice NM_002740 NP_002731 P41743 KPCI_HUMAN protein kinase C, iota anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding lung(2)|ovary(1)|breast(1)|skin(1) 5 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) AGATGACGAGTAAGTAATTCT 0.323 18 197 --- --- --- --- PASS SPATA16 83893 broad.mit.edu 37 3 172642018 172642018 + Missense_Mutation SNP T C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr3:172642018T>C uc003fin.3 - 8 1476 c.1318A>G c.(1318-1320)ATT>GTT p.I440V NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 440 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding ovary(2)|skin(1) 3 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) GTGCTTCTAATAAAATCCAAT 0.348 11 440 --- --- --- --- PASS CCDC39 339829 broad.mit.edu 37 3 180366114 180366114 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr3:180366114C>A uc010hxe.2 - 10 1316 c.1201G>T c.(1201-1203)GTG>TTG p.V401L CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 401 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TTAAACAGCACACCTTTTATG 0.313 28 455 --- --- --- --- PASS ATP11B 23200 broad.mit.edu 37 3 182605445 182605445 + Missense_Mutation SNP T A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr3:182605445T>A uc003flb.2 + 24 3044 c.2787T>A c.(2785-2787)AGT>AGA p.S929R ATP11B_uc003flc.2_Missense_Mutation_p.S513R|ATP11B_uc011bqm.1_Missense_Mutation_p.S210T|ATP11B_uc010hxf.1_Missense_Mutation_p.S91R NM_014616 NP_055431 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 929 Helical; (Potential). aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) TGATATATAGTCTTTTGGAAC 0.343 27 517 --- --- --- --- PASS EIF4G1 1981 broad.mit.edu 37 3 184039421 184039421 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr3:184039421C>T uc003fnp.2 + 10 1247 c.1049C>T c.(1048-1050)CCT>CTT p.P350L EIF4G1_uc003fno.1_Missense_Mutation_p.P291L|EIF4G1_uc010hxw.1_Missense_Mutation_p.P186L|EIF4G1_uc003fnt.2_Missense_Mutation_p.P61L|EIF4G1_uc003fnq.2_Missense_Mutation_p.P263L|EIF4G1_uc003fnr.2_Missense_Mutation_p.P186L|EIF4G1_uc010hxx.2_Missense_Mutation_p.P357L|EIF4G1_uc003fns.2_Missense_Mutation_p.P310L|EIF4G1_uc010hxy.2_Missense_Mutation_p.P357L|EIF4G1_uc003fnv.3_Missense_Mutation_p.P350L|EIF4G1_uc003fnu.3_Missense_Mutation_p.P350L|EIF4G1_uc003fnw.2_Missense_Mutation_p.P357L|EIF4G1_uc003fnx.2_Missense_Mutation_p.P154L|EIF4G1_uc003fny.3_Missense_Mutation_p.P154L NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 350 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCTCCCACCCCTTTGGCATCT 0.532 77 832 --- --- --- --- PASS ATP13A4 84239 broad.mit.edu 37 3 193185167 193185167 + Missense_Mutation SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr3:193185167G>T uc003ftd.2 - 10 1160 c.1052C>A c.(1051-1053)ACA>AAA p.T351K ATP13A4_uc003fte.1_Missense_Mutation_p.T351K|ATP13A4_uc011bsr.1_5'UTR|ATP13A4_uc010hzi.2_RNA|ATP13A4_uc003ftf.3_Missense_Mutation_p.T57K NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 351 Extracellular (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) GATAACCTCTGTTCCACAGAA 0.493 29 324 --- --- --- --- PASS CLNK 116449 broad.mit.edu 37 4 10509582 10509582 + Splice_Site SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr4:10509582C>T uc003gmo.3 - 17 1121 c.984_splice c.e17+1 p.K328_splice NM_052964 NP_443196 Q7Z7G1 CLNK_HUMAN mast cell immunoreceptor signal transducer immune response|intracellular signal transduction intracellular SH3/SH2 adaptor activity ovary(1) 1 GAAGGCATTACCTTGTTCTCC 0.433 12 24 --- --- --- --- PASS BOD1L 259282 broad.mit.edu 37 4 13603126 13603126 + Nonsense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr4:13603126C>A uc003gmz.1 - 10 5515 c.5398G>T c.(5398-5400)GGA>TGA p.G1800* BOD1L_uc010idr.1_Nonsense_Mutation_p.G1137* NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1800 DNA binding ovary(5)|breast(1) 6 GGCCCCTCTCCATCTTCTGTT 0.502 207 317 --- --- --- --- PASS SHISA3 152573 broad.mit.edu 37 4 42403074 42403074 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr4:42403074C>A uc003gwp.2 + 2 541 c.323C>A c.(322-324)GCG>GAG p.A108E NM_001080505 NP_001073974 A0PJX4 SHSA3_HUMAN shisa homolog 3 precursor 108 Helical; (Potential). multicellular organismal development endoplasmic reticulum membrane|integral to membrane ovary(1)|skin(1) 2 ATCTTCATTGCGTTCATCATC 0.498 221 314 --- --- --- --- PASS ATP10D 57205 broad.mit.edu 37 4 47527587 47527587 + Missense_Mutation SNP A C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr4:47527587A>C uc003gxk.1 + 5 868 c.704A>C c.(703-705)GAT>GCT p.D235A ATP10D_uc003gxj.3_Missense_Mutation_p.D235A NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 235 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 TCTGAAGTTGATCCTGAGAAG 0.338 38 49 --- --- --- --- PASS SRD5A3 79644 broad.mit.edu 37 4 56225538 56225538 + Missense_Mutation SNP T C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr4:56225538T>C uc003hau.2 + 2 342 c.247T>C c.(247-249)TCA>CCA p.S83P NM_024592 NP_078868 Q9H8P0 PORED_HUMAN steroid 5 alpha-reductase 3 83 Helical; (Potential). androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process endoplasmic reticulum membrane|integral to membrane 3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor 0 all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.0179) TTATATCATCTCAGTGCTGTG 0.423 14 840 --- --- --- --- PASS CLOCK 9575 broad.mit.edu 37 4 56301641 56301641 + Missense_Mutation SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr4:56301641G>T uc003haz.1 - 24 3408 c.2482C>A c.(2482-2484)CAA>AAA p.Q828K CLOCK_uc003hba.1_Missense_Mutation_p.Q828K|CLOCK_uc010igu.1_RNA NM_004898 NP_004889 O15516 CLOCK_HUMAN clock 828 Poly-Gln. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) CGGCTGAGTTGCTGCTGTTGC 0.527 16 232 --- --- --- --- PASS POLR2B 5431 broad.mit.edu 37 4 57889495 57889495 + Splice_Site SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr4:57889495G>A uc003hcl.1 + 19 2559 c.2516_splice c.e19-1 p.G839_splice POLR2B_uc011cae.1_Splice_Site_p.G832_splice|POLR2B_uc011caf.1_Splice_Site_p.G764_splice|POLR2B_uc003hcm.1_Splice_Site_p.G332_splice NM_000938 NP_000929 P30876 RPB2_HUMAN DNA directed RNA polymerase II polypeptide B mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding ovary(2) 2 Glioma(25;0.08)|all_neural(26;0.181) TTTCCTCACAGGCATGAGGCA 0.438 44 113 --- --- --- --- PASS FAM175A 84142 broad.mit.edu 37 4 84391519 84391519 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr4:84391519G>A uc003hou.2 - 5 378 c.313C>T c.(313-315)CAT>TAT p.H105Y FAM175A_uc003hot.2_5'Flank|FAM175A_uc003hov.2_5'UTR NM_139076 NP_620775 Q6UWZ7 F175A_HUMAN coiled-coil domain containing 98 105 MPN-like. chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation BRCA1-A complex polyubiquitin binding kidney(1) 1 TGATCTGAATGACGACGGAAT 0.333 139 360 --- --- --- --- PASS TRAM1L1 133022 broad.mit.edu 37 4 118005478 118005478 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr4:118005478C>A uc003ibv.3 - 1 1259 c.1072G>T c.(1072-1074)GTA>TTA p.V358L NM_152402 NP_689615 Q8N609 TR1L1_HUMAN translocation associated membrane protein 1-like 358 Cytoplasmic (Potential). protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane central_nervous_system(1) 1 GGACAGTCTACTCTATTTGAA 0.383 191 334 --- --- --- --- PASS TRAM1L1 133022 broad.mit.edu 37 4 118005532 118005532 + Nonsense_Mutation SNP T A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr4:118005532T>A uc003ibv.3 - 1 1205 c.1018A>T c.(1018-1020)AGA>TGA p.R340* NM_152402 NP_689615 Q8N609 TR1L1_HUMAN translocation associated membrane protein 1-like 340 Cytoplasmic (Potential). protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane central_nervous_system(1) 1 TTAGAAGATCTCGACCGTTTC 0.398 216 320 --- --- --- --- PASS FBXW7 55294 broad.mit.edu 37 4 153247252 153247252 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr4:153247252C>T uc003ims.2 - 10 1699 c.1550G>A c.(1549-1551)GGA>GAA p.G517E FBXW7_uc011cii.1_Missense_Mutation_p.G517E|FBXW7_uc003imt.2_Missense_Mutation_p.G517E|FBXW7_uc011cih.1_Missense_Mutation_p.G341E|FBXW7_uc003imq.2_Missense_Mutation_p.G437E|FBXW7_uc003imr.2_Missense_Mutation_p.G399E NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 517 WD 4. 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) ATCATATGCTCCACTAACAAC 0.443 Mis|N|D|F colorectal|endometrial|T-ALL 99 145 --- --- --- --- PASS SLC6A3 6531 broad.mit.edu 37 5 1441537 1441537 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr5:1441537C>A uc003jck.2 - 3 476 c.355G>T c.(355-357)GCC>TCC p.A119S NM_001044 NP_001035 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter 119 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body ovary(3)|breast(2)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) TGGCCGAGGGCCAGCTCCATG 0.582 15 115 --- --- --- --- PASS CTNND2 1501 broad.mit.edu 37 5 11411724 11411724 + Silent SNP G T T rs143717087 TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr5:11411724G>T uc003jfa.1 - 5 508 c.363C>A c.(361-363)CTC>CTA p.L121L CTNND2_uc010itt.2_Silent_p.L30L|CTNND2_uc011cmy.1_Silent_p.L30L|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 121 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 CCACCAGCTCGAGACCTGTTG 0.368 25 139 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 21783478 21783478 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr5:21783478G>A uc010iuc.2 - 8 1840 c.1382C>T c.(1381-1383)GCG>GTG p.A461V CDH12_uc011cno.1_Missense_Mutation_p.A421V|CDH12_uc003jgk.2_Missense_Mutation_p.A461V NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 461 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 AACTTTACTCGCAATTATGGA 0.378 HNSCC(59;0.17) 32 295 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45262532 45262532 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr5:45262532G>A uc003jok.2 - 8 2189 c.2164C>T c.(2164-2166)CCC>TCC p.P722S NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 722 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 GAGGCGGTGGGGGAGGCATAG 0.453 36 55 --- --- --- --- PASS IPO11 51194 broad.mit.edu 37 5 61802098 61802098 + Nonsense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr5:61802098C>T uc003jtc.2 + 19 1886 c.1696C>T c.(1696-1698)CAG>TAG p.Q566* IPO11_uc011cqr.1_Nonsense_Mutation_p.Q606*|IPO11_uc003jtd.1_RNA NM_016338 NP_057422 Q9UI26 IPO11_HUMAN Ran binding protein 11 isoform 2 566 HEAT 7. cytoplasm|nucleus protein binding lung(2)|skin(2) 4 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) ACTACTTTTTCAGTTACTGCA 0.333 18 67 --- --- --- --- PASS SCAMP1 9522 broad.mit.edu 37 5 77771402 77771402 + Missense_Mutation SNP A T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr5:77771402A>T uc003kfl.2 + 11 1085 c.928A>T c.(928-930)AAC>TAC p.N310Y SCAMP1_uc010jaa.2_RNA|SCAMP1_uc011ctc.1_RNA|SCAMP1_uc011ctd.1_RNA|SCAMP1_uc003kfm.2_RNA|SCAMP1_uc003kfn.2_Missense_Mutation_p.N48Y NM_004866 NP_004857 O15126 SCAM1_HUMAN secretory carrier membrane protein 1 310 Cytoplasmic (Potential). post-Golgi vesicle-mediated transport|protein transport integral to membrane|recycling endosome membrane|trans-Golgi network protein binding 0 all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37) TGTGATGTCCAACAAAACTGT 0.458 4 21 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 89968522 89968522 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr5:89968522C>A uc003kju.2 + 22 5008 c.4912C>A c.(4912-4914)CCT>ACT p.P1638T GPR98_uc003kjt.2_5'UTR|GPR98_uc010jba.1_RNA NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 1638 Calx-beta 11.|Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TACATTCCTTCCTTGGCAGAG 0.378 81 194 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 89989705 89989705 + Splice_Site SNP A T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr5:89989705A>T uc003kju.2 + 33 7230 c.7134_splice c.e33-2 p.S2378_splice GPR98_uc003kjt.2_Splice_Site_p.S84_splice|GPR98_uc003kjv.2_5'Flank NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCCACATTTTAGCGGAGGGCA 0.398 10 21 --- --- --- --- PASS LNPEP 4012 broad.mit.edu 37 5 96358154 96358154 + Missense_Mutation SNP T C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr5:96358154T>C uc003kmv.1 + 14 3041 c.2527T>C c.(2527-2529)TTT>CTT p.F843L LNPEP_uc003kmw.1_Missense_Mutation_p.F829L NM_005575 NP_005566 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase isoform 1 843 Extracellular (Potential). cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) CATGAAACTGTTTGATGACTG 0.443 4 81 --- --- --- --- PASS PCDHGA5 56110 broad.mit.edu 37 5 140744389 140744389 + Silent SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr5:140744389G>T uc003lju.1 + 1 492 c.492G>T c.(490-492)GTG>GTT p.V164V 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_uc011das.1_Silent_p.V164V NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 164 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGTGGGTGTGAACTCTCTCC 0.517 21 67 --- --- --- --- PASS PCDHGB3 56102 broad.mit.edu 37 5 140751506 140751506 + Silent SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr5:140751506C>T uc003ljw.1 + 1 1545 c.1545C>T c.(1543-1545)TTC>TTT p.F515F 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|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Silent_p.F515F|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 515 Extracellular (Potential).|Cadherin 5. 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) GGGTGGTGTTCGCGCAGCGAG 0.672 37 100 --- --- --- --- PASS PCDHGC4 56098 broad.mit.edu 37 5 140865131 140865131 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr5:140865131C>T uc003lky.1 + 1 391 c.391C>T c.(391-393)CCC>TCC p.P131S 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_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.P131S NM_018928 NP_061751 Q9Y5F7 PCDGL_HUMAN protocadherin gamma subfamily C, 4 isoform 1 131 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGATCACGCCCCCCGTTTTCC 0.572 44 217 --- --- --- --- PASS RELL2 285613 broad.mit.edu 37 5 141019991 141019991 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr5:141019991C>A uc003lli.2 + 7 1740 c.892C>A c.(892-894)CAG>AAG p.Q298K RELL2_uc003llh.2_Missense_Mutation_p.Q298K|RELL2_uc003llg.2_Missense_Mutation_p.Q232K|RELL2_uc010jgf.2_Intron|FCHSD1_uc010jgg.2_3'UTR|FCHSD1_uc003llj.2_RNA|FCHSD1_uc003llk.2_3'UTR NM_001130029 NP_001123501 Q8NC24 RELL2_HUMAN RELT-like 2 298 integral to membrane|plasma membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCTCTACCACAGGGAGCAGG 0.517 39 180 --- --- --- --- PASS FAM71B 153745 broad.mit.edu 37 5 156592781 156592781 + Missense_Mutation SNP G C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr5:156592781G>C uc003lwn.2 - 1 499 c.399C>G c.(397-399)CAC>CAG p.H133Q NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 133 nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCTCATGATCGTGGATGGAGA 0.527 26 100 --- --- --- --- PASS EBF1 1879 broad.mit.edu 37 5 158250303 158250303 + Missense_Mutation SNP T C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr5:158250303T>C uc010jip.2 - 8 961 c.659A>G c.(658-660)AAT>AGT p.N220S EBF1_uc011ddw.1_Missense_Mutation_p.N87S|EBF1_uc011ddx.1_Missense_Mutation_p.N220S|EBF1_uc003lxl.3_Missense_Mutation_p.N197S NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 220 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCCATCCACATTGACTGTCGT 0.433 T HMGA2 lipoma 15 61 --- --- --- --- PASS PFN3 345456 broad.mit.edu 37 5 176827199 176827199 + Nonsense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr5:176827199C>A uc003mgl.2 - 1 439 c.379G>T c.(379-381)GAA>TAA p.E127* NM_001029886 NP_001025057 P60673 PROF3_HUMAN profilin 3 127 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin binding 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) CGTATGAGTTCGTGCACCGTC 0.711 5 48 --- --- --- --- PASS TBC1D9B 23061 broad.mit.edu 37 5 179297373 179297373 + Silent SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr5:179297373G>A uc003mlh.2 - 16 2644 c.2607C>T c.(2605-2607)GCC>GCT p.A869A TBC1D9B_uc003mli.2_Silent_p.A869A|TBC1D9B_uc003mlj.2_Silent_p.A869A|TBC1D9B_uc003mlg.2_Silent_p.A45A|TBC1D9B_uc011dgv.1_Silent_p.A45A|TBC1D9B_uc011dgw.1_Silent_p.A45A|TBC1D9B_uc003mlk.1_Silent_p.A27A NM_198868 NP_942568 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 869 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(1)|skin(1) 2 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTGTCAGGCTGGCAAAGAGTT 0.632 71 234 --- --- --- --- PASS CDKAL1 54901 broad.mit.edu 37 6 20955785 20955785 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr6:20955785C>T uc003ndc.1 + 10 1052 c.878C>T c.(877-879)ACA>ATA p.T293I CDKAL1_uc003ndd.1_Missense_Mutation_p.T293I|CDKAL1_uc003nde.1_Missense_Mutation_p.T223I NM_017774 NP_060244 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 293 RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity ovary(2) 2 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) CTTGGCATGACAAATCCGCCC 0.498 6 280 --- --- --- --- PASS DCDC2 51473 broad.mit.edu 37 6 24357739 24357739 + Missense_Mutation SNP G C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr6:24357739G>C uc003ndx.2 - 1 542 c.240C>G c.(238-240)ATC>ATG p.I80M DCDC2_uc003ndy.2_Missense_Mutation_p.I80M|KAAG1_uc003ndz.1_5'UTR NM_016356 NP_057440 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 80 Doublecortin 1. cellular defense response|intracellular signal transduction|neuron migration ovary(1) 1 Ovarian(999;0.101) CCCCGCTCTGGATCTGGTCTA 0.612 5 183 --- --- --- --- PASS OR2B6 26212 broad.mit.edu 37 6 27925954 27925954 + Silent SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr6:27925954G>A uc011dkx.1 + 1 936 c.936G>A c.(934-936)AAG>AAA p.K312K NM_012367 NP_036499 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, 312 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TCTTAATCAAGAAATAAGAAA 0.343 20 123 --- --- --- --- PASS MUC21 394263 broad.mit.edu 37 6 30955025 30955025 + Missense_Mutation SNP G A A rs55763085 TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr6:30955025G>A uc003nsh.2 + 2 1324 c.1073G>A c.(1072-1074)AGC>AAC p.S358N MUC21_uc003nsi.1_RNA NM_001010909 NP_001010909 Q5SSG8 MUC21_HUMAN mucin 21 precursor 358 Ser-rich.|28 X 15 AA approximate tandem repeats.|22.|Extracellular (Potential). integral to membrane|plasma membrane ovary(1)|skin(1) 2 AGTGGGGCCAGCACAGCCACC 0.642 5 443 --- --- --- --- PASS UHRF1BP1 54887 broad.mit.edu 37 6 34789719 34789719 + Missense_Mutation SNP A T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr6:34789719A>T uc003oju.3 + 3 467 c.233A>T c.(232-234)CAC>CTC p.H78L UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 78 ovary(3) 3 TTGAAGACACACCCTATTTGC 0.463 50 289 --- --- --- --- PASS DEF6 50619 broad.mit.edu 37 6 35277562 35277562 + Missense_Mutation SNP A G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr6:35277562A>G uc003okk.2 + 2 251 c.212A>G c.(211-213)TAC>TGC p.Y71C DEF6_uc010jvs.2_Missense_Mutation_p.Y71C|DEF6_uc010jvt.2_5'UTR NM_022047 NP_071330 Q9H4E7 DEFI6_HUMAN differentially expressed in FDCP 6 homolog 71 cytoplasm|nucleus|plasma membrane 0 TACATGCCCTACCTCAACAAG 0.582 44 94 --- --- --- --- PASS PPARD 5467 broad.mit.edu 37 6 35393786 35393786 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr6:35393786G>A uc003okm.2 + 8 1565 c.1256G>A c.(1255-1257)CGG>CAG p.R419Q PPARD_uc003okn.2_Missense_Mutation_p.R419Q|PPARD_uc011dtb.1_Missense_Mutation_p.R380Q|PPARD_uc011dtc.1_Missense_Mutation_p.R321Q NM_006238 NP_006229 Q03181 PPARD_HUMAN peroxisome proliferative activated receptor, 419 Ligand-binding. apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1) 1 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) ATGATGCAGCGGATCAAGAAG 0.607 13 170 --- --- --- --- PASS C6orf64 55776 broad.mit.edu 37 6 39073367 39073367 + Missense_Mutation SNP G C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr6:39073367G>C uc003ook.1 - 2 393 c.393C>G c.(391-393)TTC>TTG p.F131L C6orf64_uc011dty.1_RNA|C6orf64_uc003oom.1_RNA NM_018322 NP_060792 Q9NPB0 CF064_HUMAN hypothetical protein LOC55776 131 integral to membrane 0 ACATCCAATAGAACAAGGACA 0.502 78 525 --- --- --- --- PASS MEP1A 4224 broad.mit.edu 37 6 46800830 46800830 + Missense_Mutation SNP G C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr6:46800830G>C uc010jzh.1 + 11 1206 c.1164G>C c.(1162-1164)TGG>TGC p.W388C MEP1A_uc011dwg.1_Missense_Mutation_p.W110C|MEP1A_uc011dwh.1_Missense_Mutation_p.W416C|MEP1A_uc011dwi.1_Missense_Mutation_p.W288C NM_005588 NP_005579 Q16819 MEP1A_HUMAN meprin A alpha precursor 388 Extracellular (Potential).|MAM. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding pancreas(2)|ovary(1) 3 Lung(136;0.192) ACCACAATTGGAAAATTGCCC 0.368 43 299 --- --- --- --- PASS LGSN 51557 broad.mit.edu 37 6 63990933 63990933 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr6:63990933C>T uc003peh.2 - 4 557 c.523G>A c.(523-525)GTG>ATG p.V175M LGSN_uc003pei.2_Missense_Mutation_p.V175M NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase 175 glutamine biosynthetic process glutamate-ammonia ligase activity skin(2) 2 L-Glutamic Acid(DB00142) TCACCAGTCACAGTGAAGGTA 0.458 47 100 --- --- --- --- PASS RIMS1 22999 broad.mit.edu 37 6 73000538 73000538 + Silent SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr6:73000538G>A uc003pga.2 + 25 3788 c.3711G>A c.(3709-3711)TCG>TCA p.S1237S RIMS1_uc011dyb.1_Intron|RIMS1_uc003pgc.2_Intron|RIMS1_uc010kaq.2_Intron|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Intron|RIMS1_uc011dyd.1_Intron|RIMS1_uc003pgf.2_Intron|RIMS1_uc003pgg.2_Intron|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Intron|RIMS1_uc003pgd.2_Intron|RIMS1_uc003pge.2_Intron|RIMS1_uc011dye.1_Intron|RIMS1_uc011dyf.1_Intron NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1237 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) CTGGAGGGTCGGCGCCACCTT 0.552 15 39 --- --- --- --- PASS SCML4 256380 broad.mit.edu 37 6 108066209 108066209 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr6:108066209C>T uc010kdf.2 - 5 877 c.626G>A c.(625-627)AGG>AAG p.R209K SCML4_uc003prz.3_Missense_Mutation_p.R151K|SCML4_uc011eam.1_Missense_Mutation_p.R209K|SCML4_uc003psa.3_Missense_Mutation_p.R180K NM_198081 NP_932347 Q8N228 SCML4_HUMAN sex comb on midleg-like 4 209 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) ACTGCAGCCCCTGGGGAAGGG 0.612 83 150 --- --- --- --- PASS HS3ST5 222537 broad.mit.edu 37 6 114378471 114378471 + Missense_Mutation SNP A G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr6:114378471A>G uc003pwg.3 - 2 1023 c.991T>C c.(991-993)TTT>CTT p.F331L uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.F331L NM_153612 NP_705840 Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 331 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding ovary(1)|pancreas(1) 2 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) TTTTGATTAAAAGGATGAAAG 0.413 44 239 --- --- --- --- PASS LATS1 9113 broad.mit.edu 37 6 150001043 150001043 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr6:150001043C>T uc003qmu.1 - 5 3109 c.2561G>A c.(2560-2562)AGA>AAA p.R854K LATS1_uc010kif.1_Missense_Mutation_p.R749K|LATS1_uc003qmv.1_Missense_Mutation_p.R854K NM_004690 NP_004681 O95835 LATS1_HUMAN LATS homolog 1 854 Protein kinase. cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) GTGTGTCCATCTGAAGCCAGT 0.289 29 130 --- --- --- --- PASS SLC29A4 222962 broad.mit.edu 37 7 5331402 5331402 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr7:5331402C>T uc003sod.2 + 5 655 c.494C>T c.(493-495)GCC>GTC p.A165V SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Missense_Mutation_p.A165V|SLC29A4_uc003soe.2_Missense_Mutation_p.P153S NM_153247 NP_694979 Q7RTT9 S29A4_HUMAN solute carrier family 29 (nucleoside 165 Cytoplasmic (Potential). nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity liver(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) CGGGACCAGGCCTACGCCATC 0.637 49 159 --- --- --- --- PASS DGKB 1607 broad.mit.edu 37 7 14661004 14661004 + Missense_Mutation SNP T C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr7:14661004T>C uc003ssz.2 - 14 1473 c.1286A>G c.(1285-1287)CAG>CGG p.Q429R DGKB_uc011jxt.1_Missense_Mutation_p.Q410R|DGKB_uc003sta.2_Missense_Mutation_p.Q429R|DGKB_uc011jxu.1_Missense_Mutation_p.Q428R NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 429 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) AAATCATACCTGCAGGCCTTG 0.363 17 29 --- --- --- --- PASS CPVL 54504 broad.mit.edu 37 7 29152388 29152388 + Missense_Mutation SNP A T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr7:29152388A>T uc003szv.2 - 3 339 c.220T>A c.(220-222)TAT>AAT p.Y74N CPVL_uc003szw.2_Missense_Mutation_p.Y74N|CPVL_uc003szx.2_Missense_Mutation_p.Y74N NM_031311 NP_112601 Q9H3G5 CPVL_HUMAN serine carboxypeptidase vitellogenic-like 74 proteolysis protein binding|serine-type carboxypeptidase activity ovary(2) 2 AAGCCGGCATAACTCTTCATG 0.453 41 125 --- --- --- --- PASS FAM188B 84182 broad.mit.edu 37 7 30868295 30868295 + Silent SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr7:30868295G>A uc003tbt.2 + 6 1151 c.1074G>A c.(1072-1074)AGG>AGA p.R358R FAM188B_uc010kwe.2_Silent_p.R329R NM_032222 NP_115598 Q4G0A6 F188B_HUMAN hypothetical protein LOC84182 358 0 TATTTTCCAGGAAAAATCAGT 0.408 135 404 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48522715 48522715 + Silent SNP T A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr7:48522715T>A uc003toq.2 + 47 13162 c.13137T>A c.(13135-13137)GCT>GCA p.A4379A ABCA13_uc010kys.1_Silent_p.A1454A|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Silent_p.A109A NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4379 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CCAGTGAAGCTGGAGGTGCAA 0.373 15 36 --- --- --- --- PASS HGF 3082 broad.mit.edu 37 7 81392130 81392130 + Silent SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr7:81392130G>A uc003uhl.2 - 2 312 c.147C>T c.(145-147)ACC>ACT p.T49T HGF_uc003uhm.2_Silent_p.T49T|HGF_uc003uhn.1_Silent_p.T49T|HGF_uc003uho.1_Silent_p.T49T|HGF_uc003uhp.2_Silent_p.T49T NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 49 PAN. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 TTTTGATTAGGGTAGTCTTTG 0.299 33 97 --- --- --- --- PASS SLC25A40 55972 broad.mit.edu 37 7 87477196 87477196 + Silent SNP T A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr7:87477196T>A uc003uje.2 - 7 780 c.429A>T c.(427-429)ATA>ATT p.I143I NM_018843 NP_061331 Q8TBP6 S2540_HUMAN mitochondrial carrier family protein 143 Helical; Name=3; (Potential).|Solcar 2. transmembrane transport integral to membrane|mitochondrial inner membrane binding haematopoietic_and_lymphoid_tissue(1) 1 Esophageal squamous(14;0.00202) CAACAATTGGTATGCAGGTTT 0.348 31 80 --- --- --- --- PASS TFPI2 7980 broad.mit.edu 37 7 93519463 93519463 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr7:93519463C>T uc003umy.1 - 2 332 c.257G>A c.(256-258)TGC>TAC p.C86Y GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Missense_Mutation_p.C86Y|TFPI2_uc003una.1_Missense_Mutation_p.C75Y|TFPI2_uc003unb.1_Missense_Mutation_p.C86Y|TFPI2_uc010lfg.1_Intron NM_006528 NP_006519 P48307 TFPI2_HUMAN tissue factor pathway inhibitor 2 precursor 86 BPTI/Kunitz inhibitor 1. blood coagulation proteinaceous extracellular matrix extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity pancreas(1) 1 all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) TATCCTCCAGCAAGCATCGTC 0.612 32 99 --- --- --- --- PASS COPS6 10980 broad.mit.edu 37 7 99688910 99688910 + Silent SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr7:99688910C>T uc003usu.2 + 8 730 c.699C>T c.(697-699)AGC>AGT p.S233S NM_006833 NP_006824 Q7L5N1 CSN6_HUMAN COP9 signalosome subunit 6 233 Interaction with Vpr. cullin deneddylation|interspecies interaction between organisms cytoplasm|signalosome protein binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) TGCTGCACAGCCGCGTCAAGC 0.587 6 727 --- --- --- --- PASS ACHE 43 broad.mit.edu 37 7 100491082 100491082 + Missense_Mutation SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr7:100491082G>T uc003uxd.2 - 1 928 c.772C>A c.(772-774)CTG>ATG p.L258M ACHE_uc003uxe.2_Missense_Mutation_p.L258M|ACHE_uc003uxf.2_Missense_Mutation_p.L258M|ACHE_uc003uxg.2_Missense_Mutation_p.L258M|ACHE_uc003uxh.2_Missense_Mutation_p.L258M|ACHE_uc003uxi.2_Missense_Mutation_p.L258M|ACHE_uc003uxj.1_Missense_Mutation_p.L377M NM_000665 NP_000656 P22303 ACES_HUMAN acetylcholinesterase isoform E4-E6 precursor 258 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity skin(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) CCGCTCTGCAGCACGGCCCTG 0.721 27 100 --- --- --- --- PASS PRKAR2B 5577 broad.mit.edu 37 7 106781375 106781375 + Silent SNP T G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr7:106781375T>G uc003vdx.2 + 5 739 c.564T>G c.(562-564)GGT>GGG p.G188G NM_002736 NP_002727 P31323 KAP3_HUMAN cAMP-dependent protein kinase, regulatory 188 cAMP 1. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity ovary(1) 1 GTGACGATGGTGACAACTTTT 0.338 66 151 --- --- --- --- PASS DOCK4 9732 broad.mit.edu 37 7 111638559 111638559 + Splice_Site SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr7:111638559C>T uc003vfx.2 - 4 432 c.163_splice c.e4-1 p.G55_splice DOCK4_uc003vfy.2_Splice_Site_p.G55_splice|DOCK4_uc003vga.1_Splice_Site|DOCK4_uc010ljt.1_Splice_Site_p.G55_splice|DOCK4_uc003vgb.1_Splice_Site NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) GAAATATACCCTGGAAAAGAA 0.393 5 5 --- --- --- --- PASS PDIA4 9601 broad.mit.edu 37 7 148702263 148702263 + Missense_Mutation SNP G C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr7:148702263G>C uc003wff.2 - 9 1774 c.1492C>G c.(1492-1494)CTC>GTC p.L498V NM_004911 NP_004902 P13667 PDIA4_HUMAN protein disulfide isomerase A4 precursor 498 cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity lung(5)|ovary(1) 6 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) AACTCGCGGAGGGTGTCAGAG 0.602 194 588 --- --- --- --- PASS AGAP3 116988 broad.mit.edu 37 7 150815341 150815341 + Missense_Mutation SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr7:150815341G>T uc003wjg.1 + 6 754 c.751G>T c.(751-753)GCC>TCC p.A251S AGAP3_uc003wje.1_Missense_Mutation_p.A23S|AGAP3_uc003wjf.1_Missense_Mutation_p.A251S|AGAP3_uc010lpy.1_Missense_Mutation_p.A251S|AGAP3_uc003wjh.1_Missense_Mutation_p.A431S NM_031946 NP_114152 Q96P47 AGAP3_HUMAN centaurin, gamma 3 isoform a 215 Small GTPase-like. 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 CGACAGCAGAGCCCGCAAGCT 0.597 104 287 --- --- --- --- PASS SH2D4A 63898 broad.mit.edu 37 8 19218777 19218777 + Missense_Mutation SNP A C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr8:19218777A>C uc003wzb.2 + 6 994 c.658A>C c.(658-660)AAG>CAG p.K220Q SH2D4A_uc011kym.1_Missense_Mutation_p.K175Q|SH2D4A_uc003wzc.2_Missense_Mutation_p.K220Q NM_022071 NP_071354 Q9H788 SH24A_HUMAN SH2 domain containing 4A 220 cytoplasm|nucleus protein binding 0 Colorectal(111;0.0732) AGAGAGAACGAAGCAGATTTG 0.348 22 35 --- --- --- --- PASS ENTPD4 9583 broad.mit.edu 37 8 23305380 23305380 + Silent SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr8:23305380G>A uc003xdl.2 - 4 389 c.225C>T c.(223-225)ACC>ACT p.T75T ENTPD4_uc011kzu.1_Silent_p.T75T|ENTPD4_uc003xdm.2_Silent_p.T75T|ENTPD4_uc011kzv.1_Silent_p.T75T|ENTPD4_uc011kzw.1_Silent_p.T41T NM_004901 NP_004892 Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 75 Lumenal (Potential). UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity ovary(1)|kidney(1) 2 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) CTTCAATGTCGGTAACTCGTG 0.433 6 225 --- --- --- --- PASS ESCO2 157570 broad.mit.edu 37 8 27657189 27657189 + Silent SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr8:27657189G>T uc003xgg.2 + 10 1712 c.1629G>T c.(1627-1629)CTG>CTT p.L543L ESCO2_uc010luy.1_RNA NM_001017420 NP_001017420 Q56NI9 ESCO2_HUMAN establishment of cohesion 1 homolog 2 543 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding central_nervous_system(1) 1 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) TTTTCAGACTGAAGAGAAGAA 0.448 SC_Phocomelia_syndrome 5 332 --- --- --- --- PASS NRG1 3084 broad.mit.edu 37 8 32616829 32616829 + Silent SNP C T T rs79631951 TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr8:32616829C>T uc003xiv.2 + 10 1453 c.936C>T c.(934-936)TAC>TAT p.Y312Y NRG1_uc011lbf.1_Silent_p.Y309Y|NRG1_uc010lvo.2_Silent_p.Y309Y|NRG1_uc003xiu.2_Silent_p.Y317Y|NRG1_uc003xiw.2_Silent_p.Y309Y|NRG1_uc003xit.2_Silent_p.Y312Y|NRG1_uc010lvr.2_Silent_p.Y54Y|NRG1_uc010lvs.2_Silent_p.Y54Y|NRG1_uc010lvp.2_Silent_p.Y266Y|NRG1_uc010lvq.2_Silent_p.Y249Y|NRG1_uc011lbg.1_Silent_p.Y158Y|NRG1_uc011lbh.1_Silent_p.Y155Y|NRG1_uc003xja.2_Silent_p.Y123Y NM_013964 NP_039258 Q02297 NRG1_HUMAN neuregulin 1 isoform HRG-alpha 312 Cytoplasmic (Potential). activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity 0 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) TCCAGCAATACGTATCTAAAA 0.383 34 116 --- --- --- --- PASS LETM2 137994 broad.mit.edu 37 8 38257893 38257893 + Missense_Mutation SNP A T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr8:38257893A>T uc003xlm.1 + 5 779 c.608A>T c.(607-609)GAT>GTT p.D203V LETM2_uc011lbn.1_Missense_Mutation_p.D47V|LETM2_uc003xll.1_Missense_Mutation_p.D155V|LETM2_uc003xln.1_Missense_Mutation_p.D47V|LETM2_uc003xlo.1_Missense_Mutation_p.D47V NM_144652 NP_653253 Q2VYF4 LETM2_HUMAN leucine zipper-EF-hand containing transmembrane 250 LETM1.|Mitochondrial matrix (Potential). integral to membrane|mitochondrial inner membrane 0 all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202) all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175) Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114) AAGATGGGCGATGCCTCTACA 0.438 95 316 --- --- --- --- PASS MCM4 4173 broad.mit.edu 37 8 48883428 48883428 + Missense_Mutation SNP A T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr8:48883428A>T uc003xqk.1 + 12 1887 c.1792A>T c.(1792-1794)ATT>TTT p.I598F MCM4_uc003xql.1_Missense_Mutation_p.I598F|MCM4_uc011ldi.1_Missense_Mutation_p.I585F NM_182746 NP_877423 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 598 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(2)|skin(2) 4 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) GACTCTGTCCATTGCAAAGGT 0.473 64 146 --- --- --- --- PASS ST18 9705 broad.mit.edu 37 8 53084631 53084631 + Missense_Mutation SNP C G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr8:53084631C>G uc003xqz.2 - 5 946 c.790G>C c.(790-792)GCA>CCA p.A264P ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.A229P|ST18_uc011lds.1_Missense_Mutation_p.A169P|ST18_uc003xra.2_Missense_Mutation_p.A264P|ST18_uc003xrb.2_Missense_Mutation_p.A264P NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 264 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) AGGGGTTCTGCGAGAGCATTC 0.488 76 238 --- --- --- --- PASS XKR4 114786 broad.mit.edu 37 8 56270299 56270299 + Missense_Mutation SNP A G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr8:56270299A>G uc003xsf.2 + 2 900 c.868A>G c.(868-870)AGG>GGG p.R290G NM_052898 NP_443130 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related 290 integral to membrane pancreas(2) 2 Epithelial(17;0.000117)|all cancers(17;0.000836) TGACAGATGGAGGTTTTACTG 0.433 60 170 --- --- --- --- PASS PREX2 80243 broad.mit.edu 37 8 68934349 68934349 + Missense_Mutation SNP A G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr8:68934349A>G uc003xxv.1 + 4 442 c.415A>G c.(415-417)ATA>GTA p.I139V PREX2_uc003xxu.1_Missense_Mutation_p.I139V|PREX2_uc011lez.1_Missense_Mutation_p.I74V NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 139 DH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 ACTCAACAAAATAAGAACAAT 0.328 20 65 --- --- --- --- PASS CA3 761 broad.mit.edu 37 8 86354334 86354334 + Nonsense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr8:86354334C>T uc003ydj.2 + 3 348 c.265C>T c.(265-267)CGA>TGA p.R89* CA3_uc011lfv.1_RNA NM_005181 NP_005172 P07451 CAH3_HUMAN carbonic anhydrase III 89 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding 0 TGGACCCTACCGACTTCGCCA 0.507 68 152 --- --- --- --- PASS TM7SF4 81501 broad.mit.edu 37 8 105361645 105361645 + Missense_Mutation SNP G C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr8:105361645G>C uc003ylx.1 + 2 914 c.865G>C c.(865-867)GAA>CAA p.E289Q NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 289 osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) GACTCCTAAAGAAAGGAAAAA 0.483 17 433 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113318395 113318395 + Missense_Mutation SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr8:113318395G>T uc003ynu.2 - 51 8071 c.7912C>A c.(7912-7914)CCA>ACA p.P2638T CSMD3_uc003yns.2_Missense_Mutation_p.P1840T|CSMD3_uc003ynt.2_Missense_Mutation_p.P2598T|CSMD3_uc011lhx.1_Missense_Mutation_p.P2534T NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2638 Extracellular (Potential).|Sushi 15. 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 CCATTTGTTGGAGCTTTAGGA 0.348 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 54 111 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113649179 113649179 + Missense_Mutation SNP G C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr8:113649179G>C uc003ynu.2 - 22 3741 c.3582C>G c.(3580-3582)ATC>ATG p.I1194M CSMD3_uc003yns.2_Missense_Mutation_p.I466M|CSMD3_uc003ynt.2_Missense_Mutation_p.I1154M|CSMD3_uc011lhx.1_Missense_Mutation_p.I1090M NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1194 Sushi 6.|Extracellular (Potential). 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 AGTTGAACCCGATTCGACTAC 0.468 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 90 210 --- --- --- --- PASS WDR67 93594 broad.mit.edu 37 8 124157029 124157029 + Missense_Mutation SNP A G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr8:124157029A>G uc003ypp.1 + 20 2998 c.2908A>G c.(2908-2910)AGA>GGA p.R970G WDR67_uc011lig.1_Missense_Mutation_p.R874G|WDR67_uc011lih.1_Missense_Mutation_p.R860G|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.R604G|WDR67_uc003ypt.1_Missense_Mutation_p.R362G|WDR67_uc003ypu.1_Missense_Mutation_p.R362G NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 970 centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) AGATGCGTCTAGAAAGTGGTT 0.388 62 129 --- --- --- --- PASS ATAD2 29028 broad.mit.edu 37 8 124369834 124369834 + Missense_Mutation SNP A T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr8:124369834A>T uc003yqh.3 - 12 1633 c.1525T>A c.(1525-1527)TCT>ACT p.S509T ATAD2_uc011lii.1_Missense_Mutation_p.S300T|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.S509T NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 509 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) TGTCTTTCAGATTCTCCTACC 0.393 69 129 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139263206 139263206 + Silent SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr8:139263206C>A uc003yuy.2 - 6 591 c.420G>T c.(418-420)CTG>CTT p.L140L FAM135B_uc003yux.2_Silent_p.L41L|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 140 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GGTGGAAGTGCAGGCCAAGCG 0.602 HNSCC(54;0.14) 145 361 --- --- --- --- PASS ZNF623 9831 broad.mit.edu 37 8 144732305 144732305 + Missense_Mutation SNP T G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr8:144732305T>G uc003yzd.2 + 1 352 c.263T>G c.(262-264)ATC>AGC p.I88S ZNF623_uc011lkp.1_Missense_Mutation_p.I48S|ZNF623_uc003yzc.2_Missense_Mutation_p.I48S NM_014789 NP_055604 O75123 ZN623_HUMAN zinc finger protein 623 isoform 1 88 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CATTGGAAGATCCAGACAGGA 0.522 8 383 --- --- --- --- PASS EPPK1 83481 broad.mit.edu 37 8 144946303 144946303 + Silent SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr8:144946303G>T uc003zaa.1 - 1 1132 c.1119C>A c.(1117-1119)TCC>TCA p.S373S NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 373 Plectin 8. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGGGGATTTGGGAGCCACTGA 0.662 5 18 --- --- --- --- PASS RFX3 5991 broad.mit.edu 37 9 3330505 3330505 + Silent SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr9:3330505C>A uc003zhr.2 - 5 540 c.228G>T c.(226-228)ACG>ACT p.T76T RFX3_uc010mhd.2_Silent_p.T76T|RFX3_uc003zhs.1_Silent_p.T76T|RFX3_uc003zht.1_Silent_p.T76T|RFX3_uc010mhe.1_Silent_p.T76T NM_134428 NP_602304 P48380 RFX3_HUMAN regulatory factor X3 isoform b 76 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) TGTAAGGATACGTTGTTGTTC 0.353 141 93 --- --- --- --- PASS TESK1 7016 broad.mit.edu 37 9 35609289 35609289 + Silent SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr9:35609289G>A uc003zxa.2 + 10 1767 c.1431G>A c.(1429-1431)CCG>CCA p.P477P TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Silent_p.P317P NM_006285 NP_006276 Q15569 TESK1_HUMAN testis-specific protein kinase 1 477 cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1) 7 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GCCCTGAGCCGGAACCTCCAG 0.667 25 234 --- --- --- --- PASS NPR2 4882 broad.mit.edu 37 9 35802240 35802240 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr9:35802240G>A uc003zyd.2 + 10 1670 c.1670G>A c.(1669-1671)CGC>CAC p.R557H NPR2_uc010mlb.2_Missense_Mutation_p.R557H NM_003995 NP_003986 P20594 ANPRB_HUMAN natriuretic peptide receptor B precursor 557 Protein kinase.|Cytoplasmic (Potential). intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity ovary(2)|stomach(1) 3 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) AATAAGAAGCGCATTGAGCTG 0.433 79 240 --- --- --- --- PASS FOXB2 442425 broad.mit.edu 37 9 79634612 79634612 + Silent SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr9:79634612G>T uc004ako.1 + 1 42 c.42G>T c.(40-42)CCG>CCT p.P14P NM_001013735 NP_001013757 Q5VYV0 FOXB2_HUMAN forkhead box B2 14 Fork-head. brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 ACCAAAAACCGCCCTACTCTT 0.632 8 33 --- --- --- --- PASS ZNF462 58499 broad.mit.edu 37 9 109689781 109689781 + Silent SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr9:109689781G>A uc004bcz.2 + 3 3877 c.3588G>A c.(3586-3588)CAG>CAA p.Q1196Q ZNF462_uc010mto.2_Silent_p.Q1044Q|ZNF462_uc004bda.2_Silent_p.Q1044Q NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 1196 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 TCTTTTGCCAGCACTGTGATT 0.547 6 901 --- --- --- --- PASS IKBKAP 8518 broad.mit.edu 37 9 111656244 111656244 + Missense_Mutation SNP T C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr9:111656244T>C uc004bdm.3 - 26 3359 c.2839A>G c.(2839-2841)ATT>GTT p.I947V IKBKAP_uc004bdl.2_Missense_Mutation_p.I598V|IKBKAP_uc011lwc.1_Missense_Mutation_p.I833V|IKBKAP_uc010mtq.2_Missense_Mutation_p.I598V|IKBKAP_uc004bdk.2_5'Flank|IKBKAP_uc010mtp.2_5'Flank NM_003640 NP_003631 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene 947 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 7 AGGTGGCCAATGGCTTTTTCA 0.269 118 75 --- --- --- --- PASS TNC 3371 broad.mit.edu 37 9 117853217 117853217 + Missense_Mutation SNP T A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr9:117853217T>A uc004bjj.3 - 2 443 c.81A>T c.(79-81)AAA>AAT p.K27N TNC_uc010mvf.2_Missense_Mutation_p.K27N NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 27 cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 GCCGGATGACTTTCTTGAGGA 0.567 80 67 --- --- --- --- PASS OLFML2A 169611 broad.mit.edu 37 9 127572626 127572626 + Missense_Mutation SNP G C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr9:127572626G>C uc004bov.2 + 8 2007 c.1894G>C c.(1894-1896)GAG>CAG p.E632Q OLFML2A_uc004bow.2_Missense_Mutation_p.E418Q NM_182487 NP_872293 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A precursor 632 Olfactomedin-like. 0 CAACCCCAAGGAGCGGGTGCT 0.647 4 203 --- --- --- --- PASS C10orf18 54906 broad.mit.edu 37 10 5799602 5799602 + Missense_Mutation SNP A G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr10:5799602A>G uc001iij.2 + 17 7477 c.6852A>G c.(6850-6852)ATA>ATG p.I2284M C10orf18_uc001iik.2_Missense_Mutation_p.I1128M NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 2284 ovary(1)|central_nervous_system(1) 2 GCTTTGTGATATCAGATGACA 0.418 11 624 --- --- --- --- PASS CACNB2 783 broad.mit.edu 37 10 18828262 18828262 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr10:18828262G>A uc001ipr.2 + 14 1652 c.1592G>A c.(1591-1593)CGC>CAC p.R531H CACNB2_uc009xjz.1_Missense_Mutation_p.R281H|CACNB2_uc001ips.2_Missense_Mutation_p.R507H|CACNB2_uc001ipt.2_Missense_Mutation_p.R493H|CACNB2_uc001ipu.2_Missense_Mutation_p.R503H|CACNB2_uc001ipv.2_Missense_Mutation_p.R479H|CACNB2_uc009xka.1_Missense_Mutation_p.R465H|CACNB2_uc001ipw.2_Missense_Mutation_p.R438H|CACNB2_uc001ipx.2_Missense_Mutation_p.R476H|CACNB2_uc001ipz.2_Missense_Mutation_p.R453H|CACNB2_uc001ipy.2_Missense_Mutation_p.R477H|CACNB2_uc010qco.1_Missense_Mutation_p.R445H|CACNB2_uc001iqa.2_Missense_Mutation_p.R483H|NSUN6_uc001iqb.2_Intron NM_201596 NP_963890 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 531 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity large_intestine(1)|central_nervous_system(1)|skin(1) 3 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TCCCAGCACCGCTCTTCCTCC 0.557 53 135 --- --- --- --- PASS MLLT10 8028 broad.mit.edu 37 10 22021982 22021982 + Silent SNP G C C rs150645153 TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr10:22021982G>C uc001iqs.2 + 19 2769 c.2421G>C c.(2419-2421)CCG>CCC p.P807P MLLT10_uc001iqt.2_Silent_p.P791P|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Silent_p.P791P|MLLT10_uc001ira.2_Silent_p.P248P|MLLT10_uc001irb.2_RNA NM_004641 NP_004632 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia 807 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(1)|skin(1) 2 ATCCTAGTCCGTCTCATCAAA 0.338 T MLL|PICALM|CDK6 AL 4 161 --- --- --- --- PASS GPR158 57512 broad.mit.edu 37 10 25886855 25886855 + Missense_Mutation SNP G T T rs145808794 by1000genomes TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr10:25886855G>T uc001isj.2 + 11 2360 c.2300G>T c.(2299-2301)CGG>CTG p.R767L GPR158_uc001isk.2_Missense_Mutation_p.R142L NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 767 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 ACAGTCAGCCGGCAGTGCTCT 0.572 62 181 --- --- --- --- PASS GAD2 2572 broad.mit.edu 37 10 26581459 26581459 + Silent SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr10:26581459C>T uc001isp.2 + 14 1955 c.1452C>T c.(1450-1452)ATC>ATT p.I484I GAD2_uc001isq.2_Silent_p.I484I NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 484 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) TATACAACATCATAAAAAACC 0.403 95 185 --- --- --- --- PASS CTNNA3 29119 broad.mit.edu 37 10 67680123 67680123 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr10:67680123C>A uc009xpn.1 - 18 2776 c.2653G>T c.(2653-2655)GTC>TTC p.V885F CTNNA3_uc001jmw.2_Missense_Mutation_p.V885F NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 885 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 TCACTCATGACTTGCAATGGA 0.403 41 156 --- --- --- --- PASS ADAMTS14 140766 broad.mit.edu 37 10 72518000 72518000 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr10:72518000C>T uc001jrh.2 + 21 3137 c.3137C>T c.(3136-3138)CCA>CTA p.P1046L ADAMTS14_uc001jrg.2_Missense_Mutation_p.P1049L NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 1046 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|upper_aerodigestive_tract(1) 6 CAGTGGGTGCCACAATCTGAA 0.517 47 183 --- --- --- --- PASS SORCS3 22986 broad.mit.edu 37 10 107022249 107022249 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr10:107022249G>A uc001kyi.1 + 26 3831 c.3604G>A c.(3604-3606)GGA>AGA p.G1202R NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 1202 Cytoplasmic (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GCGGGTCATAGGTACATGCTC 0.547 22 61 --- --- --- --- PASS TECTB 6975 broad.mit.edu 37 10 114063031 114063031 + Missense_Mutation SNP C G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr10:114063031C>G uc001kzr.1 + 10 951 c.951C>G c.(949-951)CAC>CAG p.H317Q NM_058222 NP_478129 Q96PL2 TECTB_HUMAN tectorin beta precursor 317 anchored to membrane|plasma membrane|proteinaceous extracellular matrix 0 Colorectal(252;0.198) Epithelial(162;0.0143)|all cancers(201;0.0242) ATGTTCTCCACCACCTCATCA 0.512 11 226 --- --- --- --- PASS CHST15 51363 broad.mit.edu 37 10 125804267 125804267 + Missense_Mutation SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr10:125804267G>T uc001lhl.2 - 2 1228 c.715C>A c.(715-717)CAC>AAC p.H239N CHST15_uc001lhm.2_Missense_Mutation_p.H239N|CHST15_uc001lhn.2_Missense_Mutation_p.H239N|CHST15_uc010que.1_Missense_Mutation_p.H239N|CHST15_uc001lho.2_Missense_Mutation_p.H239N NM_015892 NP_056976 Q7LFX5 CHSTF_HUMAN B cell RAG associated protein 239 Lumenal (Potential). hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity ovary(1) 1 TGCGCCAGGTGGCCCCAGAAG 0.652 7 83 --- --- --- --- PASS OR51F2 119694 broad.mit.edu 37 11 4842752 4842752 + Missense_Mutation SNP G C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr11:4842752G>C uc010qyn.1 + 1 137 c.137G>C c.(136-138)TGT>TCT p.C46S NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, 46 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ATCCCTTTTTGTCTCCTATAT 0.478 178 485 --- --- --- --- PASS OR51M1 390059 broad.mit.edu 37 11 5411101 5411101 + Missense_Mutation SNP T C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr11:5411101T>C uc010qzc.1 + 1 473 c.473T>C c.(472-474)CTA>CCA p.L158P HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, 158 integral to membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGAGCAGGCCTAATTGTCATC 0.537 5 631 --- --- --- --- PASS OR51I1 390063 broad.mit.edu 37 11 5462437 5462437 + Missense_Mutation SNP A T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr11:5462437A>T uc010qze.1 - 1 308 c.308T>A c.(307-309)ATG>AAG p.M103K HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001005288 NP_001005288 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, 103 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GATGAAGAACATCTGGACCAG 0.448 38 91 --- --- --- --- PASS OR51I1 390063 broad.mit.edu 37 11 5462447 5462447 + Silent SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr11:5462447G>A uc010qze.1 - 1 298 c.298C>T c.(298-300)CTG>TTG p.L100L HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001005288 NP_001005288 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, 100 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATCTGGACCAGGCAAGCATTA 0.453 48 85 --- --- --- --- PASS LDHC 3948 broad.mit.edu 37 11 18467792 18467792 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr11:18467792C>T uc001mon.3 + 7 858 c.746C>T c.(745-747)TCT>TTT p.S249F LDHC_uc001mom.3_Missense_Mutation_p.S249F|LDHC_uc009yhp.2_Intron|LDHC_uc001moo.3_Missense_Mutation_p.S133F|LDHC_uc009yhq.2_RNA|LDHC_uc009yhr.2_Intron NM_017448 NP_059144 P07864 LDHC_HUMAN L-lactate dehydrogenase C 249 glycolysis cytoplasm binding|L-lactate dehydrogenase activity 0 NADH(DB00157) GGGTATACCTCTTGGGCTATT 0.373 96 282 --- --- --- --- PASS OR5D13 390142 broad.mit.edu 37 11 55541396 55541396 + Silent SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr11:55541396C>A uc010ril.1 + 1 483 c.483C>A c.(481-483)CTC>CTA p.L161L NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 161 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) CCCTGATACTCACATATTTTC 0.413 102 271 --- --- --- --- PASS OR5L2 26338 broad.mit.edu 37 11 55594807 55594807 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr11:55594807C>T uc001nhy.1 + 1 113 c.113C>T c.(112-114)ACG>ATG p.T38M NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 38 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) TATGGAGTCACGTTGTTAGCC 0.502 HNSCC(27;0.073) 165 431 --- --- --- --- PASS OR8H2 390151 broad.mit.edu 37 11 55873016 55873016 + Missense_Mutation SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr11:55873016G>T uc010riy.1 + 1 498 c.498G>T c.(496-498)TTG>TTT p.L166F NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 166 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) TGAGCAGATTGCATTTCTACG 0.423 HNSCC(53;0.14) 5 320 --- --- --- --- PASS OR5R1 219479 broad.mit.edu 37 11 56185240 56185240 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr11:56185240G>A uc010rji.1 - 1 469 c.469C>T c.(469-471)CTC>TTC p.L157F NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, 157 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GTGTGGAAGAGGGCAACCAGG 0.458 59 179 --- --- --- --- PASS OR10W1 81341 broad.mit.edu 37 11 58035120 58035120 + Missense_Mutation SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr11:58035120G>T uc001nmq.1 - 1 613 c.211C>A c.(211-213)CAT>AAT p.H71N NM_207374 NP_997257 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, 71 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) GCCAGGATATGGGGCACCACC 0.512 42 123 --- --- --- --- PASS OR5B21 219968 broad.mit.edu 37 11 58274929 58274929 + Missense_Mutation SNP A T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr11:58274929A>T uc010rki.1 - 1 650 c.650T>A c.(649-651)TTC>TAC p.F217Y NM_001005218 NP_001005218 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, 217 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) GATGCATATGAAGAAGTAAGA 0.478 25 69 --- --- --- --- PASS OR10V1 390201 broad.mit.edu 37 11 59480685 59480685 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr11:59480685G>A uc001nof.1 - 1 634 c.634C>T c.(634-636)CTC>TTC p.L212F NM_001005324 NP_001005324 Q8NGI7 O10V1_HUMAN olfactory receptor, family 10, subfamily V, 212 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATCAATGAGAGGGGGATGCTA 0.522 39 117 --- --- --- --- PASS TCN1 6947 broad.mit.edu 37 11 59631502 59631502 + Nonsense_Mutation SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr11:59631502G>T uc001noj.2 - 2 235 c.137C>A c.(136-138)TCA>TAA p.S46* NM_001062 NP_001053 P20061 TCO1_HUMAN transcobalamin I precursor 46 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding ovary(2) 2 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GTTATAGTTTGACTGGATCAT 0.413 41 410 --- --- --- --- PASS MS4A14 84689 broad.mit.edu 37 11 60164080 60164080 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr11:60164080C>A uc001npj.2 + 1 594 c.29C>A c.(28-30)GCA>GAA p.A10E MS4A14_uc001npi.2_Intron|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.A10E|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 10 integral to membrane receptor activity breast(1) 1 GACAGAAGGGCAACTCACGTC 0.458 21 65 --- --- --- --- PASS MS4A14 84689 broad.mit.edu 37 11 60164081 60164081 + Silent SNP A T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr11:60164081A>T uc001npj.2 + 1 595 c.30A>T c.(28-30)GCA>GCT p.A10A MS4A14_uc001npi.2_Intron|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Silent_p.A10A|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 10 integral to membrane receptor activity breast(1) 1 ACAGAAGGGCAACTCACGTCA 0.458 21 66 --- --- --- --- PASS SLC3A2 6520 broad.mit.edu 37 11 62656110 62656110 + Missense_Mutation SNP G C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr11:62656110G>C uc001nwd.2 + 12 2062 c.1838G>C c.(1837-1839)CGC>CCC p.R613P SLC3A2_uc001nwb.2_Missense_Mutation_p.R644P|SLC3A2_uc001nwc.2_Missense_Mutation_p.R614P|SLC3A2_uc001nwe.2_Missense_Mutation_p.R582P|SLC3A2_uc001nwf.2_Missense_Mutation_p.R551P|SLC3A2_uc001nwg.2_Missense_Mutation_p.R512P NM_002394 NP_002385 P08195 4F2_HUMAN solute carrier family 3, member 2 isoform c 613 Extracellular (Potential). blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding 0 GAGCTGGAACGCCTGAAACTG 0.657 66 187 --- --- --- --- PASS KAT5 10524 broad.mit.edu 37 11 65482308 65482308 + Missense_Mutation SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr11:65482308G>T uc001ofi.2 + 9 1107 c.857G>T c.(856-858)CGA>CTA p.R286L KAT5_uc001ofj.2_Missense_Mutation_p.R234L|KAT5_uc001ofk.2_Missense_Mutation_p.R319L|KAT5_uc010roo.1_Missense_Mutation_p.R267L|KAT5_uc001ofl.2_Missense_Mutation_p.R75L NM_006388 NP_006379 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 isoform 2 286 androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity 0 TGTGACCTACGACATCCTCCA 0.542 121 320 --- --- --- --- PASS CTSF 8722 broad.mit.edu 37 11 66333633 66333633 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr11:66333633C>T uc001oip.2 - 6 817 c.727G>A c.(727-729)GAG>AAG p.E243K NM_003793 NP_003784 Q9UBX1 CATF_HUMAN cathepsin F precursor 243 proteolysis lysosome cysteine-type endopeptidase activity 0 GTGCGGAACTCCTCCTCTGCG 0.567 20 448 --- --- --- --- PASS CTTN 2017 broad.mit.edu 37 11 70281197 70281197 + Missense_Mutation SNP G C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr11:70281197G>C uc001opv.3 + 18 1788 c.1582G>C c.(1582-1584)GGC>CGC p.G528R CTTN_uc001opu.2_Missense_Mutation_p.G491R|CTTN_uc001opw.3_Missense_Mutation_p.G491R|CTTN_uc010rqm.1_Missense_Mutation_p.G212R|CTTN_uc001opx.2_Missense_Mutation_p.G212R NM_005231 NP_005222 Q14247 SRC8_HUMAN cortactin isoform a 528 SH3. 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) GATTGACGACGGCTGGTGGCG 0.612 63 195 --- --- --- --- PASS UCP3 7352 broad.mit.edu 37 11 73716885 73716885 + Missense_Mutation SNP A C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr11:73716885A>C uc001our.2 - 4 786 c.431T>G c.(430-432)TTT>TGT p.F144C UCP3_uc001ous.2_Missense_Mutation_p.F144C NM_003356 NP_003347 P55916 UCP3_HUMAN uncoupling protein 3 isoform UCP3L 144 Solcar 2. mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane binding pancreas(1) 1 Breast(11;2.08e-05) GCTGGCCTGAAATCGGACCTT 0.612 50 174 --- --- --- --- PASS PRKRIR 5612 broad.mit.edu 37 11 76062405 76062405 + Missense_Mutation SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr11:76062405G>T uc001oxh.1 - 5 1789 c.1789C>A c.(1789-1791)CAG>AAG p.Q597K PRKRIR_uc010rrz.1_Missense_Mutation_p.Q422K NM_004705 NP_004696 O43422 P52K_HUMAN protein-kinase, interferon-inducible double 597 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity ovary(2)|pancreas(1) 3 TTGAGGTGCTGTTCTGAGAAT 0.413 80 210 --- --- --- --- PASS ME3 10873 broad.mit.edu 37 11 86157526 86157526 + Missense_Mutation SNP G C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr11:86157526G>C uc001pbz.2 - 12 1638 c.1384C>G c.(1384-1386)CGA>GGA p.R462G ME3_uc001pca.2_Missense_Mutation_p.R462G|ME3_uc009yvk.2_Missense_Mutation_p.R462G NM_001014811 NP_001014811 Q16798 MAON_HUMAN mitochondrial malic enzyme 3 precursor 462 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding ovary(1) 1 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) AAAATCCCTCGGCCCTGGAGG 0.473 10 69 --- --- --- --- PASS TECTA 7007 broad.mit.edu 37 11 120983873 120983873 + Silent SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr11:120983873G>T uc010rzo.1 + 4 579 c.579G>T c.(577-579)GCG>GCT p.A193A NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 193 NIDO. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CGGGGACGGCGAGTGGCGGCG 0.572 OREG0021430 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 86 --- --- --- --- PASS OR10S1 219873 broad.mit.edu 37 11 123847930 123847930 + Nonsense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr11:123847930C>A uc001pzm.1 - 1 469 c.469G>T c.(469-471)GAA>TAA p.E157* NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, 157 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CCAGCCATTTCTGCACACATC 0.562 43 101 --- --- --- --- PASS ADAMTS8 11095 broad.mit.edu 37 11 130297558 130297558 + Silent SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr11:130297558C>T uc001qgg.3 - 1 982 c.624G>A c.(622-624)ACG>ACA p.T208T NM_007037 NP_008968 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 208 negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) TGGTCCTACTCGTGGCCCCCA 0.662 6 16 --- --- --- --- PASS DCP1B 196513 broad.mit.edu 37 12 2061719 2061719 + Missense_Mutation SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr12:2061719G>T uc001qjx.1 - 7 1467 c.1387C>A c.(1387-1389)CAG>AAG p.Q463K DCP1B_uc010sdy.1_Missense_Mutation_p.Q361K NM_152640 NP_689853 Q8IZD4 DCP1B_HUMAN decapping enzyme Dcp1b 463 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(31;0.00193) TGCAGCTGCTGCTCCTGCTGT 0.537 5 252 --- --- --- --- PASS NCAPD2 9918 broad.mit.edu 37 12 6637954 6637954 + Silent SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr12:6637954C>T uc001qoo.2 + 26 3455 c.3409C>T c.(3409-3411)CTG>TTG p.L1137L NCAPD2_uc010sfd.1_Silent_p.L1092L NM_014865 NP_055680 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 1137 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding ovary(2)|lung(1)|breast(1)|kidney(1) 5 GATGGCGGTGCTGCTCATCGA 0.602 50 96 --- --- --- --- PASS KLRF1 51348 broad.mit.edu 37 12 9984949 9984949 + Silent SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr12:9984949G>T uc010sgw.1 + 2 187 c.123G>T c.(121-123)CTG>CTT p.L41L KLRF1_uc009zgw.2_Silent_p.L41L|KLRF1_uc009zgx.2_RNA|KLRF1_uc001qwm.2_RNA|KLRF1_uc009zgy.2_RNA|KLRF1_uc009zgz.2_Silent_p.L41L|KLRF1_uc009zha.2_RNA NM_016523 NP_057607 Q9NZS2 KLRF1_HUMAN killer cell lectin-like receptor subfamily F, 41 Helical; Signal-anchor for type II membrane protein; (Potential). cell surface receptor linked signaling pathway integral to plasma membrane MHC class I receptor activity|sugar binding large_intestine(1) 1 AAATCTTACTGGGAATATCTG 0.328 57 97 --- --- --- --- PASS GRIN2B 2904 broad.mit.edu 37 12 13769390 13769390 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr12:13769390C>T uc001rbt.2 - 5 1506 c.1327G>A c.(1327-1329)GAG>AAG p.E443K NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 443 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATGCCATACTCAGTGACTATG 0.527 34 96 --- --- --- --- PASS ITPR2 3709 broad.mit.edu 37 12 26775339 26775339 + Splice_Site SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr12:26775339C>T uc001rhg.2 - 25 3540 c.3123_splice c.e25-1 p.R1041_splice NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) TTTTTCTTTTCTATAAAACCA 0.358 17 38 --- --- --- --- PASS PRPH 5630 broad.mit.edu 37 12 49690694 49690694 + Missense_Mutation SNP G C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr12:49690694G>C uc001rtu.2 + 4 800 c.725G>C c.(724-726)AGT>ACT p.S242T NM_006262 NP_006253 P41219 PERI_HUMAN peripherin 242 Linker 2.|Rod. structural molecule activity 0 CTGCAGGTGAGTGTGGAGAGC 0.647 OREG0021790 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 47 --- --- --- --- PASS KRT84 3890 broad.mit.edu 37 12 52775270 52775270 + Missense_Mutation SNP C G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr12:52775270C>G uc001sah.1 - 5 1000 c.952G>C c.(952-954)GTC>CTC p.V318L NM_033045 NP_149034 Q9NSB2 KRT84_HUMAN keratin, hair, basic, 4 318 Rod.|Linker 12. keratin filament structural constituent of epidermis skin(1) 1 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) TTCACAATGACCGACGTCTCT 0.542 186 540 --- --- --- --- PASS WIF1 11197 broad.mit.edu 37 12 65456338 65456338 + Missense_Mutation SNP C G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr12:65456338C>G uc001ssk.2 - 7 894 c.749G>C c.(748-750)TGC>TCC p.C250S NM_007191 NP_009122 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 precursor 250 EGF-like 3. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity ovary(2)|lung(1)|skin(1) 4 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) TCCATTAAAGCAGGTGGTTGA 0.423 T HMGA2 pleomorphic salivary gland adenoma 7 18 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78598727 78598727 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr12:78598727C>T uc001syp.2 + 39 7020 c.6847C>T c.(6847-6849)CGC>TGC p.R2283C NAV3_uc001syo.2_Missense_Mutation_p.R2261C|NAV3_uc010sub.1_Missense_Mutation_p.R1740C|NAV3_uc009zsf.2_Missense_Mutation_p.R1092C NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 2283 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GTATGGGAAACGCACACCATG 0.448 HNSCC(70;0.22) 33 78 --- --- --- --- PASS ACSS3 79611 broad.mit.edu 37 12 81647378 81647378 + Silent SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr12:81647378C>T uc001szl.1 + 15 2015 c.1924C>T c.(1924-1926)CTA>TTA p.L642L ACSS3_uc001szm.1_Silent_p.L641L|ACSS3_uc001szn.1_Silent_p.L324L NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 642 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 TGTCAAACAGCTACCCAAAAC 0.423 55 137 --- --- --- --- PASS ALDH1L2 160428 broad.mit.edu 37 12 105464489 105464489 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr12:105464489C>A uc001tlc.2 - 3 414 c.287G>T c.(286-288)AGA>ATA p.R96I ALDH1L2_uc009zup.2_RNA NM_001034173 NP_001029345 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 96 GART. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding skin(1) 1 ACCCACGGATCTGTAGGCTTC 0.483 31 232 --- --- --- --- PASS PTPN11 5781 broad.mit.edu 37 12 112915507 112915507 + Silent SNP A G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr12:112915507A>G uc001ttx.2 + 8 1286 c.906A>G c.(904-906)TCA>TCG p.S302S PTPN11_uc001ttw.1_Silent_p.S302S NM_002834 NP_002825 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 302 Tyrosine-protein phosphatase. axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1) 392 AGCCTGTTTCAGATTACATCA 0.398 Mis JMML|AML|MDS Noonan Syndrome Noonan_syndrome 4 340 --- --- --- --- PASS TPCN1 53373 broad.mit.edu 37 12 113710465 113710465 + Missense_Mutation SNP T G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr12:113710465T>G uc001tuw.2 + 8 1048 c.751T>G c.(751-753)TTC>GTC p.F251V TPCN1_uc001tux.2_Missense_Mutation_p.F323V|TPCN1_uc010syt.1_Missense_Mutation_p.F183V NM_017901 NP_060371 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 isoform 2 251 Helical; Name=S5 of repeat I; (Potential). endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity skin(2)|ovary(1) 3 ACTTCTAGGTTTCTACTTGTT 0.468 168 702 --- --- --- --- PASS PITPNM2 57605 broad.mit.edu 37 12 123481956 123481956 + Missense_Mutation SNP T C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr12:123481956T>C uc001uej.1 - 10 1527 c.1388A>G c.(1387-1389)CAC>CGC p.H463R PITPNM2_uc001uek.1_Missense_Mutation_p.H463R NM_020845 NP_065896 Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, 463 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) GCTGGGGTAGTGCACGCGCAT 0.672 51 259 --- --- --- --- PASS ZNF10 7556 broad.mit.edu 37 12 133733022 133733022 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr12:133733022G>A uc009zzb.2 + 5 1637 c.1190G>A c.(1189-1191)AGA>AAA p.R397K ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.R397K NM_015394 NP_056209 P21506 ZNF10_HUMAN zinc finger protein 10 397 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) CTGCATCAGAGAACCCATGTG 0.438 192 292 --- --- --- --- PASS C1QTNF9B 387911 broad.mit.edu 37 13 24466031 24466031 + Silent SNP A G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr13:24466031A>G uc010tcw.1 - 3 399 c.399T>C c.(397-399)ACT>ACC p.T133T MIPEP_uc001uox.3_5'Flank|PCOTH_uc001uoy.2_Silent_p.P95P|PCOTH_uc009zzx.2_Silent_p.P104P|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.1_Silent_p.T133T NM_001007537 NP_001007538 B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B 133 Collagen-like 2. collagen 0 CCTCAGGACCAGTGGGACCCA 0.637 19 62 --- --- --- --- PASS GTF3A 2971 broad.mit.edu 37 13 28009633 28009633 + Missense_Mutation SNP A G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr13:28009633A>G uc001ure.2 + 9 1191 c.997A>G c.(997-999)AGG>GGG p.R333G GTF3A_uc001urf.2_Missense_Mutation_p.R151G|GTF3A_uc001urg.2_RNA NM_002097 NP_002088 Q92664 TF3A_HUMAN transcription factor IIIA 333 regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter nucleoplasm DNA binding|protein binding|RNA binding|zinc ion binding 0 Lung SC(185;0.0156) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158) CCCTCCCAAAAGGAAACAAGG 0.438 24 24 --- --- --- --- PASS PCDH17 27253 broad.mit.edu 37 13 58207462 58207462 + Missense_Mutation SNP T A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr13:58207462T>A uc001vhq.1 + 1 1674 c.782T>A c.(781-783)GTG>GAG p.V261E PCDH17_uc010aec.1_Missense_Mutation_p.V261E NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 261 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CTGGGTACAGTGGTCATCGAT 0.582 70 141 --- --- --- --- PASS LTB4R2 56413 broad.mit.edu 37 14 24780888 24780888 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr14:24780888C>T uc001woq.1 + 1 2728 c.1111C>T c.(1111-1113)CGC>TGC p.R371C CIDEB_uc001woo.2_5'Flank|CIDEB_uc001wop.2_5'Flank|LTB4R2_uc001wor.2_Missense_Mutation_p.R340C|LTB4R_uc001wos.2_5'UTR|LTB4R_uc010alp.2_5'Flank NM_019839 NP_062813 Q9NPC1 LT4R2_HUMAN leukotriene B4 receptor 2 371 Cytoplasmic (Potential). chemotaxis|negative regulation of adenylate cyclase activity integral to plasma membrane 0 GBM - Glioblastoma multiforme(265;0.018) GGGGCAGGGCCGCGGCAATGG 0.657 166 113 --- --- --- --- PASS C14orf166 51637 broad.mit.edu 37 14 52471216 52471216 + Silent SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr14:52471216G>A uc010aod.2 + 8 847 c.717G>A c.(715-717)CTG>CTA p.L239L C14orf166_uc001wzm.3_Silent_p.L105L|C14orf166_uc001wzn.3_Silent_p.L101L NM_016039 NP_057123 Q9Y224 CN166_HUMAN homeobox prox 1 239 microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex identical protein binding 0 Breast(41;0.0639)|all_epithelial(31;0.101) ACCACAGACTGGGAAAAGTTG 0.433 53 112 --- --- --- --- PASS CGRRF1 10668 broad.mit.edu 37 14 54997721 54997721 + Missense_Mutation SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr14:54997721G>T uc001xay.2 + 4 614 c.523G>T c.(523-525)GCG>TCG p.A175S CGRRF1_uc010tra.1_Missense_Mutation_p.A175S|CGRRF1_uc001xaz.2_RNA NM_006568 NP_006559 Q99675 CGRF1_HUMAN cell growth regulator with ring finger domain 1 175 cell cycle arrest|negative regulation of cell proliferation|response to stress zinc ion binding ovary(1) 1 TCCATTGGTAGCGCTATTGAC 0.343 28 43 --- --- --- --- PASS RGS6 9628 broad.mit.edu 37 14 72943476 72943476 + Silent SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr14:72943476C>T uc001xna.3 + 11 1243 c.720C>T c.(718-720)TCC>TCT p.S240S RGS6_uc010ttn.1_Silent_p.S240S|RGS6_uc001xmx.3_Silent_p.S240S|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Silent_p.S240S|RGS6_uc010ttp.1_Silent_p.S171S|RGS6_uc001xmz.1_Silent_p.S101S NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 240 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) CTGAAGAGTCCCAGGCACAGA 0.373 8 87 --- --- --- --- PASS LTBP2 4053 broad.mit.edu 37 14 74972770 74972770 + Silent SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr14:74972770G>A uc001xqa.2 - 28 4545 c.4158C>T c.(4156-4158)TGC>TGT p.C1386C NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 1386 EGF-like 16; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CCCGTGGGCGGCAGTGCCCCT 0.627 6 357 --- --- --- --- PASS PROX2 283571 broad.mit.edu 37 14 75330330 75330330 + Missense_Mutation SNP T C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr14:75330330T>C uc001xqr.1 - 1 208 c.208A>G c.(208-210)ACC>GCC p.T70A PROX2_uc001xqq.1_5'UTR NM_001080408 NP_001073877 Q3B8N5 PROX2_HUMAN prospero homeobox 2 70 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) CGGACAATGGTCTCCACTCTG 0.607 12 41 --- --- --- --- PASS ADCK1 57143 broad.mit.edu 37 14 78399617 78399617 + Silent SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr14:78399617C>T uc001xui.2 + 11 1554 c.1455C>T c.(1453-1455)AGC>AGT p.S485S ADCK1_uc001xuj.2_Silent_p.S417S|ADCK1_uc001xul.2_Silent_p.S192S NM_020421 NP_065154 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 isoform a 492 extracellular region ATP binding|protein serine/threonine kinase activity stomach(2)|ovary(1) 3 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) TCTCTTTCAGCGAGGCCTTCA 0.408 49 229 --- --- --- --- PASS NRXN3 9369 broad.mit.edu 37 14 79933711 79933711 + Missense_Mutation SNP C G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr14:79933711C>G uc001xun.2 + 13 2782 c.2291C>G c.(2290-2292)GCT>GGT p.A764G NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.A132G|NRXN3_uc010asw.2_Missense_Mutation_p.A132G|NRXN3_uc001xur.3_Missense_Mutation_p.A132G NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 1137 Extracellular (Potential).|Laminin G-like 6. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) ATCGACAGTGCTCCAGGACTT 0.557 75 123 --- --- --- --- PASS DIO2 1734 broad.mit.edu 37 14 80669493 80669493 + Nonsense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr14:80669493C>A uc010tvq.1 - 3 763 c.361G>T c.(361-363)GAG>TAG p.E121* DIO2_uc010tvp.1_Nonsense_Mutation_p.E157*|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_3'UTR|DIO2_uc010tvr.1_Nonsense_Mutation_p.E121*|DIO2_uc010asy.2_Nonsense_Mutation_p.E121* NM_000793 NP_000784 Q92813 IOD2_HUMAN deiodinase, iodothyronine, type II isoform a 121 hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0281) AGTGGGCGCTCAGGGCTGGCA 0.562 OREG0022848 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 36 --- --- --- --- PASS FLRT2 23768 broad.mit.edu 37 14 86089404 86089404 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr14:86089404G>A uc001xvr.2 + 2 2313 c.1546G>A c.(1546-1548)GCC>ACC p.A516T FLRT2_uc010atd.2_Missense_Mutation_p.A516T NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 516 Extracellular (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) CACCACCCATGCCTCCTATCT 0.572 68 154 --- --- --- --- PASS KCNK10 54207 broad.mit.edu 37 14 88651981 88651981 + Silent SNP C T T rs141080520 by1000genomes TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr14:88651981C>T uc001xwo.2 - 7 1972 c.1515G>A c.(1513-1515)ACG>ACA p.T505T KCNK10_uc001xwm.2_Silent_p.T510T|KCNK10_uc001xwn.2_Silent_p.T510T NM_021161 NP_066984 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 505 Cytoplasmic (Potential). signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(2)|pancreas(1) 5 GGATACAGTCCGTCAGCATGG 0.507 54 275 --- --- --- --- PASS GPR68 8111 broad.mit.edu 37 14 91700654 91700654 + Silent SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr14:91700654C>T uc001xzg.2 - 2 1082 c.741G>A c.(739-741)TTG>TTA p.L247L GPR68_uc001xzh.2_Silent_p.L257L NM_003485 NP_003476 Q15743 OGR1_HUMAN G protein-coupled receptor 68 247 Helical; Name=6; (Potential). inflammatory response integral to plasma membrane G-protein coupled receptor activity kidney(1) 1 all_cancers(154;0.0555) COAD - Colon adenocarcinoma(157;0.21) GCACCAGCAGCAACACGTGGT 0.637 4 11 --- --- --- --- PASS CATSPERB 79820 broad.mit.edu 37 14 92105440 92105440 + Silent SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr14:92105440C>T uc001xzs.1 - 16 1727 c.1587G>A c.(1585-1587)CAG>CAA p.Q529Q CATSPERB_uc010aub.1_Silent_p.Q51Q NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN cation channel, sperm-associated, beta 529 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(2)|skin(2)|ovary(1) 5 all_cancers(154;0.0663)|all_epithelial(191;0.236) ATATACTGACCTGTCCAAAAA 0.383 19 85 --- --- --- --- PASS TRIP11 9321 broad.mit.edu 37 14 92482168 92482168 + Missense_Mutation SNP T C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr14:92482168T>C uc001xzy.2 - 6 1483 c.695A>G c.(694-696)CAT>CGT p.H232R TRIP11_uc010auf.1_5'UTR NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 232 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) TTCATGTTGATGGTCATCAAT 0.303 T PDGFRB AML 11 65 --- --- --- --- PASS SERPINA3 12 broad.mit.edu 37 14 95080939 95080939 + Missense_Mutation SNP T G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr14:95080939T>G uc001ydp.2 + 2 240 c.161T>G c.(160-162)GTG>GGG p.V54G SERPINA3_uc001ydo.3_Missense_Mutation_p.V79G|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.V54G|SERPINA3_uc001yds.2_Missense_Mutation_p.V54G|SERPINA3_uc010avg.2_Missense_Mutation_p.V54G NM_001085 NP_001076 P01011 AACT_HUMAN serpin peptidase inhibitor, clade A, member 3 54 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1) 6 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) TCCGCCAACGTGGACTTCGCT 0.567 83 217 --- --- --- --- PASS PPP2R5C 5527 broad.mit.edu 37 14 102378761 102378761 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr14:102378761G>A uc001yko.2 + 12 1417 c.1277G>A c.(1276-1278)CGG>CAG p.R426Q PPP2R5C_uc010txr.1_Missense_Mutation_p.R457Q|PPP2R5C_uc001ykk.2_Missense_Mutation_p.R481Q|PPP2R5C_uc001ykn.2_Missense_Mutation_p.R426Q|PPP2R5C_uc001ykp.2_Missense_Mutation_p.R426Q|PPP2R5C_uc001ykq.2_3'UTR NM_002719 NP_002710 Q13362 2A5G_HUMAN gamma isoform of regulatory subunit B56, protein 426 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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction chromosome, centromeric region|nucleus|protein phosphatase type 2A complex protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity ovary(1)|breast(1) 2 ATGAAAGAACGGGAAGAAGCA 0.393 7 226 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106207942 106207942 + RNA SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr14:106207942G>T uc010tyt.1 - 3628 c.59175C>A uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Missense_Mutation_p.F153L|uc001ysf.2_Missense_Mutation_p.F153L Parts of antibodies, mostly variable regions. 0 TGTAGAGGAAGAAGGAGCCGT 0.592 182 356 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106926231 106926231 + RNA SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr14:106926231C>A uc010tyt.1 - 235 c.10324G>T uc010tyu.1_Intron Parts of antibodies, mostly variable regions. 0 AGTTCTCAGACTGTTCATTTG 0.493 98 467 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 15 20643996 20643996 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr15:20643996C>A uc001ytg.2 - 23 3483 c.2774G>T c.(2773-2775)GGC>GTC p.G925V uc010tyx.1_RNA|uc001yth.3_Missense_Mutation_p.G925V RecName: Full=Putative HERC2-like protein 3; ACCATCGATGCCTCCAACCAC 0.582 19 55 --- --- --- --- PASS C15orf2 23742 broad.mit.edu 37 15 24921807 24921807 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr15:24921807C>A uc001ywo.2 + 1 1267 c.793C>A c.(793-795)CCA>ACA p.P265T NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 265 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) GCCCCCTGAGCCAGCCGTTGG 0.637 15 110 --- --- --- --- PASS C15orf41 84529 broad.mit.edu 37 15 36946308 36946308 + Silent SNP T C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr15:36946308T>C uc001zje.3 + 4 472 c.222T>C c.(220-222)AAT>AAC p.N74N C15orf41_uc001zjd.2_Silent_p.N74N|C15orf41_uc010bbb.1_5'UTR|C15orf41_uc001zjf.2_5'UTR|C15orf41_uc010uci.1_5'UTR NM_001130010 NP_001123482 Q9Y2V0 CO041_HUMAN hypothetical protein LOC84529 isoform 1 74 protein binding pancreas(1) 1 all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222) all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11) GGTACCTGAATGGAGTGGTGA 0.453 4 24 --- --- --- --- PASS SLC28A2 9153 broad.mit.edu 37 15 45556870 45556870 + Silent SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr15:45556870G>A uc001zva.2 + 7 671 c.606G>A c.(604-606)GTG>GTA p.V202V NM_004212 NP_004203 O43868 S28A2_HUMAN solute carrier family 28 (sodium-coupled 202 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity ovary(4) 4 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) GGAGGACAGTGTTTTCGGGCC 0.433 89 172 --- --- --- --- PASS COPS2 9318 broad.mit.edu 37 15 49425984 49425984 + Missense_Mutation SNP C G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr15:49425984C>G uc001zxf.2 - 9 998 c.919G>C c.(919-921)GAA>CAA p.E307Q COPS2_uc001zxh.2_Missense_Mutation_p.E314Q|COPS2_uc010ufa.1_Missense_Mutation_p.E243Q NM_004236 NP_004227 P61201 CSN2_HUMAN COP9 constitutive photomorphogenic homolog 307 PCI. cullin deneddylation|transcription from RNA polymerase II promoter cytoplasm|signalosome protein binding|signal transducer activity lung(1) 1 all_lung(180;0.0428) all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05) GCTAAAATTTCTGGATCATTT 0.259 6 52 --- --- --- --- PASS ATP8B4 79895 broad.mit.edu 37 15 50366359 50366359 + Missense_Mutation SNP T A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr15:50366359T>A uc001zxu.2 - 3 194 c.52A>T c.(52-54)AAT>TAT p.N18Y ATP8B4_uc010ber.2_5'UTR|ATP8B4_uc010ufd.1_5'UTR|ATP8B4_uc010ufe.1_RNA NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 18 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TCACGGTCATTGGCTTTCACT 0.363 100 148 --- --- --- --- PASS MYO1E 4643 broad.mit.edu 37 15 59519708 59519708 + Missense_Mutation SNP T C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr15:59519708T>C uc002aga.2 - 7 964 c.592A>G c.(592-594)AGG>GGG p.R198G NM_004998 NP_004989 Q12965 MYO1E_HUMAN myosin IE 198 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity central_nervous_system(3) 3 all cancers(107;0.207) ATCACCACCCTAGATTTTTCC 0.438 97 133 --- --- --- --- PASS CELF6 60677 broad.mit.edu 37 15 72582591 72582591 + Nonsense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr15:72582591G>A uc002auh.2 - 4 710 c.400C>T c.(400-402)CGA>TGA p.R134* uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010biw.2_Nonsense_Mutation_p.R21*|CELF6_uc010ukl.1_Nonsense_Mutation_p.R19*|CELF6_uc010ukm.1_Nonsense_Mutation_p.R134*|CELF6_uc002aui.2_Nonsense_Mutation_p.R240*|CELF6_uc002auj.2_Nonsense_Mutation_p.R21* NM_052840 NP_443072 Q96J87 CELF6_HUMAN bruno-like 6, RNA binding protein 134 RRM 2. mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus nucleotide binding|RNA binding p.R134*(1) large_intestine(1)|central_nervous_system(1)|skin(1) 3 AACAGCTTTCGGTCCTCTGGG 0.602 10 61 --- --- --- --- PASS TARSL2 123283 broad.mit.edu 37 15 102261359 102261359 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr15:102261359G>A uc002bxm.2 - 3 591 c.536C>T c.(535-537)ACA>ATA p.T179I TARSL2_uc010usi.1_RNA NM_152334 NP_689547 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 179 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity ovary(2) 2 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GTAAGGCGTTGTTTTCCAGAC 0.413 299 409 --- --- --- --- PASS PDZD9 255762 broad.mit.edu 37 16 21995838 21995838 + Missense_Mutation SNP A G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr16:21995838A>G uc002dka.1 - 5 676 c.359T>C c.(358-360)ATC>ACC p.I120T NM_173806 NP_776167 Q8IXQ8 PDZD9_HUMAN hypothetical protein LOC255762 182 pancreas(1) 1 GTCTCTGGAGATGGATATTGG 0.368 8 282 --- --- --- --- PASS PALB2 79728 broad.mit.edu 37 16 23619309 23619309 + Missense_Mutation SNP G C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr16:23619309G>C uc002dlx.1 - 12 3426 c.3226C>G c.(3226-3228)CAT>GAT p.H1076D NM_024675 NP_078951 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 1076 Interaction with RAD51 and BRCA2.|WD 5. double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1) 11 GBM - Glioblastoma multiforme(48;0.0167) GCACAGGGATGACTCAGGACA 0.443 F|N|Mis Wilms tumor|medulloblastoma|AML ,breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of 20 111 --- --- --- --- PASS MAPK3 5595 broad.mit.edu 37 16 30128291 30128291 + Missense_Mutation SNP T A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr16:30128291T>A uc002dws.2 - 7 1041 c.941A>T c.(940-942)AAC>ATC p.N314I uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_Missense_Mutation_p.N200I|MAPK3_uc002dwv.3_Missense_Mutation_p.N270I|MAPK3_uc002dwt.2_Missense_Mutation_p.N314I|MAPK3_uc002dwu.2_RNA|MAPK3_uc010bzp.2_RNA NM_002746 NP_002737 P27361 MK03_HUMAN mitogen-activated protein kinase 3 isoform 1 314 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter cytosol|nucleoplasm ATP binding|MAP kinase activity|phosphatase binding 0 Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605) TTTATTGGGGTTAAAGGTTAA 0.582 102 537 --- --- --- --- PASS ZNF668 79759 broad.mit.edu 37 16 31073463 31073463 + Silent SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr16:31073463C>T uc010caf.2 - 3 1143 c.786G>A c.(784-786)ACG>ACA p.T262T ZNF668_uc002eao.2_Silent_p.T262T NM_024706 NP_078982 Q96K58 ZN668_HUMAN zinc finger protein 668 262 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4) 4 AACTGAGCTGCGTGAAGCCCT 0.687 22 142 --- --- --- --- PASS ZNF646 9726 broad.mit.edu 37 16 31092149 31092149 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr16:31092149G>A uc002eap.2 + 2 4793 c.4504G>A c.(4504-4506)GAC>AAC p.D1502N NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 1502 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 CCACGCTGGTGACTGCCAGCT 0.572 6 148 --- --- --- --- PASS VPS35 55737 broad.mit.edu 37 16 46712999 46712999 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr16:46712999C>A uc002eef.3 - 6 675 c.576G>T c.(574-576)AAG>AAT p.K192N VPS35_uc002eed.2_Missense_Mutation_p.K13N|VPS35_uc002eee.2_Missense_Mutation_p.K153N NM_018206 NP_060676 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 192 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding 0 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GCACCCAGAGCTTGTTCATTT 0.408 17 78 --- --- --- --- PASS ZNF423 23090 broad.mit.edu 37 16 49671045 49671045 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr16:49671045G>A uc002efs.2 - 5 2316 c.2018C>T c.(2017-2019)TCC>TTC p.S673F ZNF423_uc010vgn.1_Missense_Mutation_p.S556F NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 673 C2H2-type 15. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) GGACTCCTGGGAGTCAAAGTC 0.562 33 201 --- --- --- --- PASS CDH16 1014 broad.mit.edu 37 16 66947036 66947036 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr16:66947036G>A uc002eql.2 - 9 1125 c.1052C>T c.(1051-1053)CCA>CTA p.P351L CDH16_uc010cdy.2_Missense_Mutation_p.P351L|CDH16_uc002eqm.2_Missense_Mutation_p.P254L NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 351 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) TAGCTCACCTGGTGGACTGAG 0.577 29 737 --- --- --- --- PASS TRADD 8717 broad.mit.edu 37 16 67188649 67188649 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr16:67188649G>A uc002eri.1 - 5 922 c.842C>T c.(841-843)ACG>ATG p.T281M TRADD_uc002erh.1_Missense_Mutation_p.T221M NM_003789 NP_003780 Q15628 TRADD_HUMAN TNFRSF1A-associated via death domain 281 Interaction with KRT14 and KRT18.|Death. activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway cytoskeleton|cytosol|receptor complex binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity lung(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) GCGCTGCAGCGTGGCGCGGCG 0.697 5 39 --- --- --- --- PASS FUK 197258 broad.mit.edu 37 16 70508827 70508827 + Missense_Mutation SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr16:70508827G>T uc002eyy.2 + 18 2348 c.2290G>T c.(2290-2292)GTG>TTG p.V764L FUK_uc010cft.2_Missense_Mutation_p.V796L|FUK_uc002eyz.2_Missense_Mutation_p.V255L NM_145059 NP_659496 Q8N0W3 FUK_HUMAN fucokinase 764 cytoplasm ATP binding|fucokinase activity ovary(1) 1 Ovarian(137;0.0694) GTGGCTGGCGGTGGGGCCTCG 0.701 9 7 --- --- --- --- PASS CNTNAP4 85445 broad.mit.edu 37 16 76528905 76528905 + Missense_Mutation SNP G C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr16:76528905G>C uc002feu.1 + 16 2564 c.2179G>C c.(2179-2181)GAG>CAG p.E727Q CNTNAP4_uc002fev.1_Missense_Mutation_p.E591Q|CNTNAP4_uc010chb.1_Missense_Mutation_p.E654Q|CNTNAP4_uc002fex.1_Missense_Mutation_p.E730Q|CNTNAP4_uc002few.2_Missense_Mutation_p.E702Q NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 727 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 TTGTGGATTAGAGGGAAACTG 0.408 5 251 --- --- --- --- PASS MBTPS1 8720 broad.mit.edu 37 16 84132744 84132744 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr16:84132744G>A uc002fhi.2 - 3 837 c.335C>T c.(334-336)GCG>GTG p.A112V NM_003791 NP_003782 Q14703 MBTP1_HUMAN membrane-bound transcription factor site-1 112 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity ovary(2) 2 TAGCAGCCCCGCTTTCTGTTT 0.423 24 372 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr17:7578263G>A uc002gim.2 - 6 780 c.586C>T c.(586-588)CGA>TGA p.R196* TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.2_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.1_Nonsense_Mutation_p.R157* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 196 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (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.R196*(125)|p.R196P(12)|p.0?(7)|p.R196R(5)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.R196Q(3)|p.K164_P219del(1)|p.R196L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.R64*(1)|p.I195fs*12(1)|p.R103*(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) CCTTCCACTCGGATAAGATGC 0.552 111 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) 55 71 --- --- --- --- PASS NCOR1 9611 broad.mit.edu 37 17 16068475 16068475 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr17:16068475C>A uc002gpo.2 - 5 676 c.436G>T c.(436-438)GAT>TAT p.D146Y NCOR1_uc002gpn.2_Missense_Mutation_p.D146Y|NCOR1_uc002gpp.1_Missense_Mutation_p.D37Y|NCOR1_uc002gpr.2_Missense_Mutation_p.D37Y|NCOR1_uc002gps.1_Missense_Mutation_p.D146Y|NCOR1_uc010coz.1_5'UTR|NCOR1_uc010cpb.1_Missense_Mutation_p.D146Y|NCOR1_uc010cpa.1_Missense_Mutation_p.D146Y|NCOR1_uc002gpu.2_Missense_Mutation_p.D146Y NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 146 Interaction with ZBTB33 and HEXIM1. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) AATGCTGGATCCTTTAGAGAA 0.393 45 266 --- --- --- --- PASS ZNF624 57547 broad.mit.edu 37 17 16526936 16526936 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr17:16526936C>A uc010cpi.1 - 6 1347 c.1264G>T c.(1264-1266)GGG>TGG p.G422W NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 422 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) AAGGCTTTCCCACAATCATCA 0.388 63 96 --- --- --- --- PASS NF1 4763 broad.mit.edu 37 17 29661984 29661984 + Missense_Mutation SNP A G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr17:29661984A>G uc002hgg.2 + 40 6274 c.5941A>G c.(5941-5943)ATG>GTG p.M1981V NF1_uc002hgh.2_Missense_Mutation_p.M1960V|NF1_uc010cso.2_Missense_Mutation_p.M169V|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 1981 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GCTGATAACAATGACCATCAA 0.373 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 46 110 --- --- --- --- PASS KRT13 3860 broad.mit.edu 37 17 39658985 39658985 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr17:39658985C>T uc002hwu.1 - 5 1040 c.977G>A c.(976-978)CGC>CAC p.R326H KRT13_uc002hwv.1_Missense_Mutation_p.R326H|KRT13_uc002hww.2_Missense_Mutation_p.R219H|KRT13_uc010wfr.1_Missense_Mutation_p.R219H|KRT13_uc010cxo.2_Missense_Mutation_p.R326H|KRT13_uc002hwx.1_Missense_Mutation_p.R314H NM_153490 NP_705694 P13646 K1C13_HUMAN keratin 13 isoform a 326 Rod.|Coil 2. epidermis development intermediate filament structural molecule activity ovary(2)|skin(2)|pancreas(1) 5 Breast(137;0.000286) TTGGAGCGTGCGCCTGAGCTC 0.577 7 850 --- --- --- --- PASS HOXB8 3218 broad.mit.edu 37 17 46690838 46690838 + Missense_Mutation SNP T C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr17:46690838T>C uc002inw.2 - 2 693 c.458A>G c.(457-459)TAC>TGC p.Y153C HOXB7_uc002inv.2_5'Flank NM_024016 NP_076921 P17481 HXB8_HUMAN homeobox B8 153 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GTAGCGGCTGTAGGTCTGTCG 0.532 60 118 --- --- --- --- PASS GNA13 10672 broad.mit.edu 37 17 63010730 63010730 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr17:63010730C>T uc002jfc.2 - 4 988 c.779G>A c.(778-780)CGA>CAA p.R260Q GNA13_uc010wqh.1_Missense_Mutation_p.R165Q NM_006572 NP_006563 Q14344 GNA13_HUMAN guanine nucleotide binding protein (G protein), 260 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex|melanosome D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding 0 ATTGGTCAGTCGATCTTCCAT 0.388 16 248 --- --- --- --- PASS ABCA10 10349 broad.mit.edu 37 17 67145042 67145042 + Missense_Mutation SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr17:67145042G>T uc010dfa.1 - 40 5437 c.4558C>A c.(4558-4560)CAG>AAG p.Q1520K ABCA10_uc002jhz.2_RNA|ABCA10_uc010wqs.1_Missense_Mutation_p.Q512K|ABCA10_uc010wqt.1_RNA NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 1520 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) CCCAGCTCCTGCTCTTTACAG 0.363 51 120 --- --- --- --- PASS ABCA10 10349 broad.mit.edu 37 17 67145043 67145043 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr17:67145043C>A uc010dfa.1 - 40 5436 c.4557G>T c.(4555-4557)GAG>GAT p.E1519D ABCA10_uc002jhz.2_RNA|ABCA10_uc010wqs.1_Missense_Mutation_p.E511D|ABCA10_uc010wqt.1_RNA NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 1519 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) CCAGCTCCTGCTCTTTACAGA 0.368 50 120 --- --- --- --- PASS RPTOR 57521 broad.mit.edu 37 17 78796099 78796099 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr17:78796099G>A uc002jyt.1 + 8 1794 c.989G>A c.(988-990)CGG>CAG p.R330Q RPTOR_uc002jys.2_Missense_Mutation_p.R330Q|RPTOR_uc010wuf.1_Missense_Mutation_p.R145Q|RPTOR_uc010wug.1_Missense_Mutation_p.R330Q NM_020761 NP_065812 Q8N122 RPTOR_HUMAN raptor isoform 1 330 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding lung(4)|urinary_tract(1)|ovary(1) 6 GTGCTCCCCCGGGGTGAGGCG 0.647 178 312 --- --- --- --- PASS TBCD 6904 broad.mit.edu 37 17 80828207 80828207 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr17:80828207C>T uc002kfz.2 + 14 1556 c.1426C>T c.(1426-1428)CGT>TGT p.R476C TBCD_uc002kfx.1_Missense_Mutation_p.R459C|TBCD_uc002kfy.1_Missense_Mutation_p.R476C NM_005993 NP_005984 Q9BTW9 TBCD_HUMAN beta-tubulin cofactor D 476 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity 0 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) GGCCTTCGCGCGTGCCTATGA 0.652 39 73 --- --- --- --- PASS TXNL1 9352 broad.mit.edu 37 18 54291628 54291628 + Missense_Mutation SNP C G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr18:54291628C>G uc002lgg.2 - 3 509 c.260G>C c.(259-261)AGA>ACA p.R87T TXNL1_uc010xdz.1_RNA|TXNL1_uc002lgh.2_RNA|TXNL1_uc002lgi.2_Missense_Mutation_p.R87T|TXNL1_uc002lgj.1_Missense_Mutation_p.R87T NM_004786 NP_004777 O43396 TXNL1_HUMAN thioredoxin-like 1 87 Thioredoxin. cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport cytoplasm electron carrier activity|protein disulfide oxidoreductase activity 0 READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211) TTGATCAATTCTCACTTTGTT 0.378 4 626 --- --- --- --- PASS TMIGD2 126259 broad.mit.edu 37 19 4294666 4294666 + Missense_Mutation SNP C A A rs143069562 byFrequency TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:4294666C>A uc002lzx.1 - 4 506 c.460G>T c.(460-462)GTG>TTG p.V154L TMIGD2_uc010dtv.1_Missense_Mutation_p.V154L NM_144615 NP_653216 Q96BF3 TMIG2_HUMAN transmembrane and immunoglobulin domain 154 Helical; (Potential). integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) CCCAGCAGCACGAAGAGGAAT 0.642 26 618 --- --- --- --- PASS FSD1 79187 broad.mit.edu 37 19 4317224 4317224 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:4317224G>A uc002lzy.2 + 8 899 c.746G>A c.(745-747)TGT>TAT p.C249Y FSD1_uc002lzz.2_Missense_Mutation_p.C249Y|FSD1_uc002maa.2_Missense_Mutation_p.C62Y NM_024333 NP_077309 Q9BTV5 FSD1_HUMAN fibronectin type III and SPRY domain containing 249 Fibronectin type-III. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) GTGAAGGCCTGTAACAAGGCA 0.502 6 367 --- --- --- --- PASS DPP9 91039 broad.mit.edu 37 19 4694679 4694679 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:4694679C>A uc002mba.2 - 13 1768 c.1510G>T c.(1510-1512)GGG>TGG p.G504W DPP9_uc002mbb.2_Missense_Mutation_p.G504W|DPP9_uc002mbc.2_3'UTR NM_139159 NP_631898 Q86TI2 DPP9_HUMAN dipeptidylpeptidase 9 475 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) TCACCTTCCCCGGGGCTGAAG 0.552 11 37 --- --- --- --- PASS FEM1A 55527 broad.mit.edu 37 19 4792611 4792611 + Missense_Mutation SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:4792611G>T uc002mbf.2 + 1 884 c.745G>T c.(745-747)GCT>TCT p.A249S uc002mbg.1_RNA NM_018708 NP_061178 Q9BSK4 FEM1A_HUMAN fem-1 homolog a 249 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) AGGGGGAGAGGCTCAGCCTGG 0.687 47 103 --- --- --- --- PASS FUT6 2528 broad.mit.edu 37 19 5831575 5831575 + Missense_Mutation SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:5831575G>T uc002mdf.1 - 4 1530 c.1004C>A c.(1003-1005)GCT>GAT p.A335D FUT6_uc002mdg.1_Missense_Mutation_p.A335D|FUT6_uc002mdh.1_Missense_Mutation_p.A335D|FUT6_uc010dul.1_Missense_Mutation_p.A335D NM_001040701 NP_001035791 P51993 FUT6_HUMAN fucosyltransferase 6 335 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity 0 CTTGCAGAAAGCGAGTGCCCA 0.647 56 206 --- --- --- --- PASS FUT3 2525 broad.mit.edu 37 19 5843815 5843815 + Missense_Mutation SNP G C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:5843815G>C uc002mdk.2 - 2 1133 c.1036C>G c.(1036-1038)CAG>GAG p.Q346E FUT3_uc002mdm.2_Missense_Mutation_p.Q346E|FUT3_uc002mdj.2_Missense_Mutation_p.Q346E|FUT3_uc002mdl.2_Missense_Mutation_p.Q346E NM_001097641 NP_001091110 P21217 FUT3_HUMAN fucosyltransferase 3 346 Lumenal (Potential). protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity 0 CTGGATTCCTGCTGCAGTTTC 0.647 16 246 --- --- --- --- PASS INSR 3643 broad.mit.edu 37 19 7168106 7168106 + Splice_Site SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:7168106C>A uc002mgd.1 - 7 1593 c.1484_splice c.e7-1 p.C495_splice INSR_uc002mge.1_Splice_Site_p.C495_splice|INSR_uc002mgf.2_Splice_Site_p.C495_splice NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCATTTTCACCTGGAAAAGTT 0.383 22 68 --- --- --- --- PASS RFX1 5989 broad.mit.edu 37 19 14104451 14104451 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:14104451C>T uc002mxv.2 - 2 477 c.205G>A c.(205-207)GGT>AGT p.G69S RFX1_uc010dzi.2_Missense_Mutation_p.G69S NM_002918 NP_002909 P22670 RFX1_HUMAN regulatory factor X1 69 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity lung(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) TTCTGGCCACCCGGTggctgt 0.353 35 49 --- --- --- --- PASS UNC13A 23025 broad.mit.edu 37 19 17758177 17758177 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:17758177C>A uc002nhd.2 - 17 2205 c.2205G>T c.(2203-2205)GAG>GAT p.E735D NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 647 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 CCGCGAAGATCTCCTGGATGA 0.602 37 67 --- --- --- --- PASS ARRDC2 27106 broad.mit.edu 37 19 18121409 18121409 + Silent SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:18121409C>T uc002nhv.2 + 7 1184 c.1041C>T c.(1039-1041)GCC>GCT p.A347A ARRDC2_uc002nhu.2_Silent_p.A342A NM_015683 NP_056498 Q8TBH0 ARRD2_HUMAN arrestin domain containing 2 isoform 1 347 pancreas(1) 1 AGGTGGTAGCCGACACTGAGG 0.642 6 225 --- --- --- --- PASS PIK3R2 5296 broad.mit.edu 37 19 18278092 18278092 + Missense_Mutation SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:18278092G>T uc002nia.1 + 13 2224 c.1712G>T c.(1711-1713)CGC>CTC p.R571L PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA NM_005027 NP_005018 O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 571 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1) 6 ATGCAGCTGCGCAAGATCCGA 0.617 44 115 --- --- --- --- PASS GMIP 51291 broad.mit.edu 37 19 19749075 19749075 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:19749075G>A uc002nnd.2 - 9 799 c.682C>T c.(682-684)CGG>TGG p.R228W GMIP_uc010xrb.1_Missense_Mutation_p.R228W|GMIP_uc010xrc.1_Missense_Mutation_p.R228W NM_016573 NP_057657 Q9P107 GMIP_HUMAN GEM interacting protein 228 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity ovary(1) 1 GAGCGTGCCCGCAGGTCCTCG 0.716 8 60 --- --- --- --- PASS ZNF676 163223 broad.mit.edu 37 19 22363001 22363001 + Silent SNP T C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:22363001T>C uc002nqs.1 - 3 1836 c.1518A>G c.(1516-1518)AAA>AAG p.K506K NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 506 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) ATTCTTCACATTTGTAGCGTT 0.388 5 232 --- --- --- --- PASS ZNF676 163223 broad.mit.edu 37 19 22363757 22363757 + Silent SNP T C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:22363757T>C uc002nqs.1 - 3 1080 c.762A>G c.(760-762)AAA>AAG p.K254K NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 254 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) ATTCTTCACATTTGTAGGGTT 0.383 12 275 --- --- --- --- PASS UBA2 10054 broad.mit.edu 37 19 34945384 34945384 + Missense_Mutation SNP A T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:34945384A>T uc002nvk.2 + 12 1238 c.1168A>T c.(1168-1170)ACT>TCT p.T390S UBA2_uc010xrx.1_Missense_Mutation_p.T263S|UBA2_uc002nvl.2_Missense_Mutation_p.T294S NM_005499 NP_005490 Q9UBT2 SAE2_HUMAN SUMO-1 activating enzyme subunit 2 390 protein sumoylation nucleus ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity ovary(1) 1 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) TATTGCTACTACTAATGCAGT 0.343 14 45 --- --- --- --- PASS ZNF569 148266 broad.mit.edu 37 19 37904971 37904971 + Missense_Mutation SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:37904971G>T uc002ogi.2 - 6 1147 c.589C>A c.(589-591)CAG>AAG p.Q197K ZNF569_uc002ogh.2_Missense_Mutation_p.Q38K|ZNF569_uc002ogj.2_Missense_Mutation_p.Q221K NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN zinc finger protein 569 197 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCCAAAGTCTGATTGAAGCCT 0.373 7 173 --- --- --- --- PASS SNRPA 6626 broad.mit.edu 37 19 41268920 41268920 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:41268920C>T uc002ooz.2 + 4 1076 c.541C>T c.(541-543)CCA>TCA p.P181S SNRPA_uc002opa.2_Missense_Mutation_p.P131S NM_004596 NP_004587 P09012 SNRPA_HUMAN small nuclear ribonucleoprotein polypeptide A 181 Pro-rich. nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding skin(2)|ovary(1)|central_nervous_system(1) 4 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) TGGCCAGATCCCACCAGGGGC 0.642 9 106 --- --- --- --- PASS PSG5 5673 broad.mit.edu 37 19 43680143 43680143 + Silent SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:43680143G>A uc002ovu.2 - 3 719 c.588C>T c.(586-588)CCC>CCT p.P196P PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Intron|PSG5_uc002ovx.2_Silent_p.P196P|PSG5_uc002ovv.2_Silent_p.P289P|PSG5_uc002ovw.2_Intron NM_002781 NP_002772 Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 196 Ig-like C2-type 1. female pregnancy extracellular region skin(3) 3 Prostate(69;0.00899) TGTTTTCAATGGGTCGCTTTA 0.498 144 283 --- --- --- --- PASS ZNF222 7673 broad.mit.edu 37 19 44537128 44537128 + Missense_Mutation SNP A G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:44537128A>G uc002oyc.2 + 4 1484 c.1301A>G c.(1300-1302)TAC>TGC p.Y434C ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Missense_Mutation_p.Y474C|ZNF222_uc002oyd.2_Missense_Mutation_p.Y380C NM_013360 NP_037492 Q9UK12 ZN222_HUMAN zinc finger protein 222 isoform 2 434 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Prostate(69;0.0435) GGGAAGCGCTACAAGAGGCGC 0.303 54 106 --- --- --- --- PASS ZNF234 10780 broad.mit.edu 37 19 44661176 44661176 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:44661176G>A uc002oym.2 + 6 1314 c.1007G>A c.(1006-1008)AGG>AAG p.R336K ZNF234_uc002oyl.3_Missense_Mutation_p.R336K NM_006630 NP_006621 Q14588 ZN234_HUMAN zinc finger protein 234 336 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0435) ATCCATCAAAGGGTCCACACA 0.438 8 157 --- --- --- --- PASS DMPK 1760 broad.mit.edu 37 19 46280647 46280647 + Missense_Mutation SNP T A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:46280647T>A uc002pdd.1 - 7 1658 c.1114A>T c.(1114-1116)ACC>TCC p.T372S DMPK_uc010xxs.1_Missense_Mutation_p.T273S|DMPK_uc002pde.1_Missense_Mutation_p.T372S|DMPK_uc002pdf.1_Missense_Mutation_p.T362S|DMPK_uc002pdg.1_Missense_Mutation_p.T362S|DMPK_uc002pdh.1_Missense_Mutation_p.T362S|DMPK_uc002pdi.1_Missense_Mutation_p.T388S|DMPK_uc010xxt.1_Missense_Mutation_p.T362S NM_001081563 NP_001075032 Q09013 DMPK_HUMAN myotonic dystrophy protein kinase isoform 1 372 AGC-kinase C-terminal. regulation of heart contraction ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3) 3 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24) CATGTGTCGGTGGCACCTTCG 0.637 59 110 --- --- --- --- PASS TBC1D17 79735 broad.mit.edu 37 19 50385600 50385600 + Silent SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:50385600C>T uc002pqo.2 + 7 893 c.741C>T c.(739-741)TCC>TCT p.S247S TBC1D17_uc010enn.1_RNA|TBC1D17_uc010ybg.1_Silent_p.S214S|TBC1D17_uc002pqp.2_5'UTR|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_5'UTR|TBC1D17_uc002pqs.2_RNA NM_024682 NP_078958 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 247 intracellular Rab GTPase activator activity 0 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) GAGCCGCCTCCGACCTTCCCC 0.557 58 169 --- --- --- --- PASS LRRC4B 94030 broad.mit.edu 37 19 51020877 51020877 + Missense_Mutation SNP A G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:51020877A>G uc002pss.2 - 3 2230 c.2093T>C c.(2092-2094)CTG>CCG p.L698P ASPDH_uc002psr.3_5'Flank NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B precursor 698 Cytoplasmic (Potential). cell junction|integral to membrane|presynaptic membrane central_nervous_system(1)|skin(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) CTTGAAGAGCAGAGGTTCGTG 0.592 13 60 --- --- --- --- PASS ZNF613 79898 broad.mit.edu 37 19 52447996 52447996 + Nonsense_Mutation SNP C G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:52447996C>G uc002pxz.1 + 6 1283 c.860C>G c.(859-861)TCA>TGA p.S287* ZNF613_uc002pya.1_Nonsense_Mutation_p.S251* NM_001031721 NP_001026891 Q6PF04 ZN613_HUMAN zinc finger protein 613 isoform 1 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) GGAGAGAAGTCATATATATGC 0.433 20 166 --- --- --- --- PASS VN1R2 317701 broad.mit.edu 37 19 53762720 53762720 + Silent SNP T C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:53762720T>C uc002qbi.2 + 1 1176 c.1092T>C c.(1090-1092)CCT>CCC p.P364P NM_173856 NP_776255 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 364 Helical; Name=7; (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 GBM - Glioblastoma multiforme(134;0.00301) CTATTAGCCCTTTTGTTCTCA 0.433 4 648 --- --- --- --- PASS VSTM1 284415 broad.mit.edu 37 19 54567035 54567035 + Translation_Start_Site SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:54567035G>A uc002qcw.3 - 1 173 c.-3C>T c.(-5--1)GACGC>GATGC VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Translation_Start_Site NM_198481 NP_940883 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 integral to membrane 0 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) CGGTCATAGCGTCCCTTCTGC 0.627 17 605 --- --- --- --- PASS NLRP5 126206 broad.mit.edu 37 19 56544122 56544122 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:56544122C>A uc002qmj.2 + 8 2422 c.2422C>A c.(2422-2424)CCC>ACC p.P808T NLRP5_uc002qmi.2_Missense_Mutation_p.P789T NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 808 mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GCTGAGGCATCCCACCTGCAA 0.617 73 276 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57328467 57328467 + Missense_Mutation SNP C G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr19:57328467C>G uc002qnu.2 - 7 1694 c.1343G>C c.(1342-1344)GGG>GCG p.G448A ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G419A|PEG3_uc002qnv.2_Missense_Mutation_p.G448A|PEG3_uc002qnw.2_Missense_Mutation_p.G324A|PEG3_uc002qnx.2_Missense_Mutation_p.G322A|PEG3_uc010etr.2_Missense_Mutation_p.G448A NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 448 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TGGCATTGCCCCAAAATCAAT 0.488 114 335 --- --- --- --- PASS SEC23B 10483 broad.mit.edu 37 20 18506561 18506561 + Silent SNP T C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr20:18506561T>C uc002wqz.1 + 7 1262 c.819T>C c.(817-819)GCT>GCC p.A273A SEC23B_uc002wra.1_Silent_p.A273A|SEC23B_uc002wrb.1_Silent_p.A273A|SEC23B_uc010zsb.1_Silent_p.A255A|SEC23B_uc002wrc.1_Silent_p.A273A NM_006363 NP_006354 Q15437 SC23B_HUMAN Sec23 homolog B 273 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding ovary(1) 1 TGTCCATTGCTGTTGGCTTGC 0.438 4 355 --- --- --- --- PASS GZF1 64412 broad.mit.edu 37 20 23349405 23349405 + Missense_Mutation SNP G C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr20:23349405G>C uc010gdb.2 + 5 1640 c.1466G>C c.(1465-1467)AGA>ACA p.R489T GZF1_uc002wsy.2_Missense_Mutation_p.R489T|GZF1_uc010zsq.1_Missense_Mutation_p.R13T|GZF1_uc010zsr.1_5'UTR|GZF1_uc002wsz.2_Missense_Mutation_p.R489T NM_022482 NP_071927 Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 489 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding kidney(1) 1 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) GTAGGTGAAAGACCTTTTATG 0.358 5 411 --- --- --- --- PASS CHD6 84181 broad.mit.edu 37 20 40065951 40065951 + Missense_Mutation SNP T A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr20:40065951T>A uc002xka.1 - 27 4209 c.4031A>T c.(4030-4032)AAT>ATT p.N1344I CHD6_uc002xkb.1_Missense_Mutation_p.N110I NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1344 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) GTCCTCAGCATTGTCTTCTTT 0.294 59 78 --- --- --- --- PASS GNAS 2778 broad.mit.edu 37 20 57429324 57429324 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr20:57429324C>A uc002xzw.2 + 1 1289 c.1004C>A c.(1003-1005)CCG>CAG p.P335Q GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas Error:Variant_position_missing_in_P63092_after_alignment activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CTTGACGGCCCGCCCATCAAG 0.647 Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 3 35 --- --- --- --- PASS LAMA5 3911 broad.mit.edu 37 20 60903446 60903446 + Silent SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr20:60903446C>T uc002ycq.2 - 35 4570 c.4503G>A c.(4501-4503)CCG>CCA p.P1501P NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 1501 Laminin EGF-like 13. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGTGCGTGGCGGGCAGATGC 0.682 6 9 --- --- --- --- PASS BAGE2 85319 broad.mit.edu 37 21 11097628 11097628 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr21:11097628C>A uc002yit.1 - 2 242 c.34G>T c.(34-36)GCC>TCC p.A12S BAGE_uc002yix.2_RNA NM_182482 NP_872288 B melanoma antigen family, member 2 precursor 0 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) agcagctgggcagacaatgcc 0.264 10 186 --- --- --- --- PASS MOV10L1 54456 broad.mit.edu 37 22 50552829 50552829 + Nonsense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr22:50552829C>T uc003bjj.2 + 7 987 c.904C>T c.(904-906)CAA>TAA p.Q302* MOV10L1_uc003bjk.3_Nonsense_Mutation_p.Q302*|MOV10L1_uc011arp.1_Nonsense_Mutation_p.Q282*|MOV10L1_uc011arq.1_Nonsense_Mutation_p.Q63*|MOV10L1_uc010hao.1_RNA NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN MOV10-like 1 isoform 1 302 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding ovary(2)|skin(1) 3 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) AGACATTCCTCAAAACTTAGT 0.358 61 145 --- --- --- --- PASS PANX2 56666 broad.mit.edu 37 22 50609369 50609369 + Silent SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr22:50609369C>T uc003bjn.3 + 1 210 c.210C>T c.(208-210)TTC>TTT p.F70F PANX2_uc003bjp.3_5'UTR|PANX2_uc003bjo.3_Silent_p.F70F NM_052839 NP_443071 Q96RD6 PANX2_HUMAN pannexin 2 isoform 1 70 Helical; (Potential). protein hexamerization|synaptic transmission gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity breast(1) 1 all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) CCCTGGTCTTCACCAAGAACT 0.582 9 20 --- --- --- --- PASS PLCXD1 55344 broad.mit.edu 37 X 215978 215978 + Silent SNP C G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chrX:215978C>G uc004cpc.2 + 7 1260 c.948C>G c.(946-948)CTC>CTG p.L316L PLCXD1_uc011mgx.1_RNA NM_018390 NP_060860 Q9NUJ7 PLCX1_HUMAN phosphatidylinositol-specific phospholipase C, X 316 intracellular signal transduction|lipid metabolic process phospholipase C activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TCATCGCGCTCAATCAGAAGC 0.607 33 102 --- --- --- --- PASS GPR143 4935 broad.mit.edu 37 X 9728766 9728766 + Silent SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chrX:9728766C>A uc004cst.1 - 2 411 c.411G>T c.(409-411)GTG>GTT p.V137V NM_000273 NP_000264 P51810 GP143_HUMAN G protein-coupled receptor 143 117 Extracellular (Potential). calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding ovary(1) 1 Hepatocellular(5;0.000888) CCGCACTCCCCACGCAGAAAG 0.408 16 16 --- --- --- --- PASS ZNF645 158506 broad.mit.edu 37 X 22292376 22292376 + Missense_Mutation SNP G C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chrX:22292376G>C uc004dai.1 + 1 1317 c.1268G>C c.(1267-1269)AGA>ACA p.R423T NM_152577 NP_689790 Q8N7E2 ZN645_HUMAN zinc finger protein 645 423 intracellular zinc ion binding lung(1)|pancreas(1) 2 AGAAGACATAGACGGTATTAA 0.463 58 42 --- --- --- --- PASS STARD8 9754 broad.mit.edu 37 X 67943851 67943851 + Missense_Mutation SNP C A A rs150722287 TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chrX:67943851C>A uc004dxa.2 + 13 3214 c.2842C>A c.(2842-2844)CAA>AAA p.Q948K STARD8_uc004dxb.2_Missense_Mutation_p.Q1028K|STARD8_uc004dxc.3_Missense_Mutation_p.Q948K NM_014725 NP_055540 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain 948 START. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity breast(3)|ovary(2)|pancreas(1) 6 GGATCCGGAACAACCTGTGCC 0.612 78 50 --- --- --- --- PASS RLIM 51132 broad.mit.edu 37 X 73811938 73811938 + Silent SNP G C C rs61754468 by1000genomes TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chrX:73811938G>C uc004ebu.2 - 5 1502 c.1212C>G c.(1210-1212)ACC>ACG p.T404T RLIM_uc004ebw.2_Silent_p.T404T NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 404 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 GCCTTAACATGGTCTGAATTG 0.413 7 172 --- --- --- --- PASS POU3F4 5456 broad.mit.edu 37 X 82763523 82763523 + Missense_Mutation SNP G C C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chrX:82763523G>C uc004eeg.2 + 1 255 c.191G>C c.(190-192)GGG>GCG p.G64A NM_000307 NP_000298 P49335 PO3F4_HUMAN POU domain, class 3, transcription factor 4 64 sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 CTGAGCGACGGGGGCCCATGG 0.622 4 17 --- --- --- --- PASS CXorf57 55086 broad.mit.edu 37 X 105855548 105855548 + Nonsense_Mutation SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chrX:105855548G>T uc004emi.3 + 1 389 c.238G>T c.(238-240)GAG>TAG p.E80* CXorf57_uc004emj.3_Nonsense_Mutation_p.E80*|CXorf57_uc004emh.2_Nonsense_Mutation_p.E80* NM_018015 NP_060485 Q6NSI4 CX057_HUMAN hypothetical protein LOC55086 80 ovary(1)|lung(1)|breast(1) 3 GTACCTGTTAGAGGATGAGCC 0.567 5 238 --- --- --- --- PASS CAPN6 827 broad.mit.edu 37 X 110491097 110491097 + Splice_Site SNP A G G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chrX:110491097A>G uc004epc.1 - 11 1774 c.1606_splice c.e11+1 p.T536_splice CAPN6_uc011msu.1_Splice_Site_p.T281_splice NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1) 6 TGCCATTCTTACTTTCATTGG 0.368 10 207 --- --- --- --- PASS GLUD2 2747 broad.mit.edu 37 X 120181839 120181839 + Missense_Mutation SNP C T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chrX:120181839C>T uc004eto.2 + 1 378 c.301C>T c.(301-303)CGG>TGG p.R101W NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 101 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) GAAGCGGAACCGGGTGCGCGG 0.627 13 150 --- --- --- --- PASS MAGEC3 139081 broad.mit.edu 37 X 140969321 140969321 + Missense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chrX:140969321C>A uc011mwp.1 + 4 648 c.648C>A c.(646-648)AAC>AAA p.N216K NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 216 MAGE 1. skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) ATGTCATCAACACATACACGG 0.448 6 277 --- --- --- --- PASS MIR891B 100126304 broad.mit.edu 37 X 145082638 145082638 + RNA SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chrX:145082638C>A hsa-mir-891b|MI0005534 - c.12C>A 0 AGGTAAGTTGCAAGGATTAAG 0.229 58 42 --- --- --- --- PASS GABRQ 55879 broad.mit.edu 37 X 151821068 151821068 + Missense_Mutation SNP T A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chrX:151821068T>A uc004ffp.1 + 9 1243 c.1223T>A c.(1222-1224)CTG>CAG p.L408Q NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 408 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CAGGCCCCCCTGGCAAGCCCG 0.592 75 51 --- --- --- --- PASS MAGEA6 4105 broad.mit.edu 37 X 151870031 151870031 + Missense_Mutation SNP G T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chrX:151870031G>T uc004ffq.1 + 3 915 c.721G>T c.(721-723)GAT>TAT p.D241Y MAGEA6_uc004ffr.1_Missense_Mutation_p.D241Y|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 241 MAGE. protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) TATCTTCGGGGATCCCAAGAA 0.542 239 192 --- --- --- --- PASS DUSP9 1852 broad.mit.edu 37 X 152915069 152915069 + Nonsense_Mutation SNP C A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chrX:152915069C>A uc004fhx.3 + 3 960 c.756C>A c.(754-756)TAC>TAA p.Y252* DUSP9_uc004fhy.3_Nonsense_Mutation_p.Y252* NM_001395 NP_001386 Q99956 DUS9_HUMAN dual specificity phosphatase 9 252 Tyrosine-protein phosphatase. inactivation of MAPK activity|JNK cascade cytosol|endoplasmic reticulum|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity ovary(2) 2 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ACTTTCACTACAAGCAGATCC 0.557 8 388 --- --- --- --- PASS F8 2157 broad.mit.edu 37 X 154157066 154157066 + Missense_Mutation SNP G A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chrX:154157066G>A uc004fmt.2 - 14 5170 c.4999C>T c.(4999-5001)CGG>TGG p.R1667W NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 1667 B. Cleavage (activation). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GTTATTTCCCGTTGATGGCGT 0.413 32 128 --- --- --- --- PASS KCNJ3 3760 broad.mit.edu 37 2 155711609 155711609 + Frame_Shift_Del DEL G - - TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr2:155711609delG uc002tyv.1 + 3 1485 c.1290delG c.(1288-1290)TTGfs p.L430fs KCNJ3_uc010zce.1_3'UTR NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 430 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) CCTACAGCTTGGGAGACTTGC 0.403 102 60 --- --- --- --- KIAA1211 57482 broad.mit.edu 37 4 57180576 57180577 + In_Frame_Ins INS - GGAGCGGAGGGAGCGGAG GGAGCGGAGGGAGCGGAG rs138358443 by1000genomes TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr4:57180576_57180577insGGAGCGGAGGGAGCGGAG uc003hbk.2 + 8 1299_1300 c.908_909insGGAGCGGAGGGAGCGGAG c.(907-909)GCG>GCGGAGCGGAGGGAGCGGAGG p.303_304insERRERR KIAA1211_uc010iha.2_In_Frame_Ins_p.296_297insERRERR|KIAA1211_uc011bzz.1_In_Frame_Ins_p.213_214insERRERR|KIAA1211_uc003hbm.1_In_Frame_Ins_p.189_190insERRERR NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 303_304 Glu-rich. ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) TGGGAGGACGCGGAGCGGAGGG 0.733 4 2 --- --- --- --- CYP4V2 285440 broad.mit.edu 37 4 187120238 187120239 + Splice_Site INS - T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr4:187120238_187120239insT uc003iyw.3 + 6 1105 c.801_splice c.e6+1 p.S267_splice NM_207352 NP_997235 Q6ZWL3 CP4V2_HUMAN cytochrome P450, family 4, subfamily v, response to stimulus|visual perception endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 0 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17) TACCAACAGTGTAAGTCCCTGA 0.238 76 42 --- --- --- --- TRDN 10345 broad.mit.edu 37 6 123703272 123703273 + Frame_Shift_Ins INS - T T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr6:123703272_123703273insT uc003pzj.1 - 15 1177_1178 c.1155_1156insA c.(1153-1158)AAACCTfs p.K385fs TRDN_uc003pzk.1_Frame_Shift_Ins_p.K386fs|TRDN_uc003pzl.1_Frame_Shift_Ins_p.K386fs|TRDN_uc010kem.1_5'UTR NM_006073 NP_006064 Q13061 TRDN_HUMAN triadin 385_386 Lumenal. muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.184) CCTTCTGCAGGTTTTTTTGTTT 0.297 4 2 --- --- --- --- FERD3L 222894 broad.mit.edu 37 7 19184715 19184715 + Frame_Shift_Del DEL G - - TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr7:19184715delG uc003suo.1 - 1 330 c.271delC c.(271-273)CGCfs p.R91fs uc003sun.1_RNA NM_152898 NP_690862 Q96RJ6 FER3L_HUMAN nephew of atonal 3 91 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding large_intestine(1) 1 CTCTTGGGGCGGCCTAATAGG 0.343 73 39 --- --- --- --- DLGAP2 9228 broad.mit.edu 37 8 1624759 1624759 + Frame_Shift_Del DEL G - - TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr8:1624759delG uc003wpl.2 + 8 2120 c.2023delG c.(2023-2025)GGGfs p.G675fs DLGAP2_uc003wpm.2_Frame_Shift_Del_p.G661fs NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 754 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CCACTCTGTCGGGGTGCAAGT 0.542 29 20 --- --- --- --- LOC341056 341056 broad.mit.edu 37 11 122889507 122889508 + RNA INS - A A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chr11:122889507_122889508insA uc010rzt.1 + 1 c.1234_1235insA NR_027288 full-length cDNA clone CS0DC021YJ17 of Neuroblastoma Cot 25-normalized of Homo sapiens (human). 0 TTCCTGCGACGAAGGAGGTGGT 0.564 7 4 --- --- --- --- ZNF645 158506 broad.mit.edu 37 X 22291349 22291349 + Frame_Shift_Del DEL T - - TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx db2614fb-109c-4ce1-af4c-f648a0d417fb 5e86765f-cf21-47e0-8ab4-16f6c0f6d939 g.chrX:22291349delT uc004dai.1 + 1 290 c.241delT c.(241-243)TGTfs p.C81fs NM_152577 NP_689790 Q8N7E2 ZN645_HUMAN zinc finger protein 645 81 RING-type. intracellular zinc ion binding lung(1)|pancreas(1) 2 TTGCTATCACTGTGCTAATTT 0.388 68 85 --- --- --- ---