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 PIK3CD 5293 broad.mit.edu 37 1 9781535 9781535 + Silent SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:9781535G>A uc001aqb.3 + 15 2053 c.1845G>A c.(1843-1845)CTG>CTA p.L615L PIK3CD_uc010oaf.1_Silent_p.L614L|PIK3CD_uc001aqe.3_Silent_p.L639L NM_005026 NP_005017 O00329 PK3CD_HUMAN catalytic phosphatidylinositol 3-kinase delta 615 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(4)|skin(2)|central_nervous_system(1) 7 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) TGCTGCAGCTGGTGCAGGTGC 0.627 16 41 --- --- --- --- PASS AADACL3 126767 broad.mit.edu 37 1 12785921 12785921 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:12785921G>A uc009vnn.1 + 4 1244 c.1011G>A c.(1009-1011)ATG>ATA p.M337I AADACL3_uc001aug.1_Missense_Mutation_p.M267I NM_001103170 NP_001096640 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 isoform 1 337 hydrolase activity 0 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) CCTGCTCCATGAGAATTCTGA 0.512 30 43 --- --- --- --- PASS TMEM82 388595 broad.mit.edu 37 1 16069353 16069353 + Silent SNP T C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:16069353T>C uc001axc.2 + 2 250 c.112T>C c.(112-114)TTG>CTG p.L38L NM_001013641 NP_001013663 A0PJX8 TMM82_HUMAN transmembrane protein 82 38 Leu-rich.|Helical; (Potential). integral to membrane breast(1)|central_nervous_system(1) 2 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCTTGGAGTCTTGGTCCTGAA 0.642 15 20 --- --- --- --- PASS ACTL8 81569 broad.mit.edu 37 1 18152812 18152812 + Missense_Mutation SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:18152812G>C uc001bat.2 + 3 1115 c.899G>C c.(898-900)GGC>GCC p.G300A NM_030812 NP_110439 Q9H568 ACTL8_HUMAN actin-like 8 300 cytoplasm|cytoskeleton ovary(4) 4 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) GCCTGCGGGGGCAACACCCTC 0.642 OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 54 --- --- --- --- PASS IGSF21 84966 broad.mit.edu 37 1 18691941 18691941 + Silent SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:18691941C>T uc001bau.1 + 6 1148 c.765C>T c.(763-765)AAC>AAT p.N255N IGSF21_uc001bav.1_Silent_p.N76N NM_032880 NP_116269 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 precursor 255 extracellular region ovary(2)|large_intestine(1)|skin(1) 4 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) CAGATCCCAACATCCTCCTCC 0.647 59 117 --- --- --- --- PASS KIF17 57576 broad.mit.edu 37 1 21031387 21031387 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:21031387G>A uc001bdr.3 - 5 794 c.676C>T c.(676-678)CGG>TGG p.R226W KIF17_uc001bds.3_Missense_Mutation_p.R226W NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 226 Kinesin-motor. microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) TCCTTGCCCCGCTCATCTGCA 0.527 27 37 --- --- --- --- PASS MAN1C1 57134 broad.mit.edu 37 1 25944517 25944517 + Missense_Mutation SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:25944517G>C uc001bkm.2 + 1 559 c.229G>C c.(229-231)GAG>CAG p.E77Q MAN1C1_uc009vry.1_5'UTR NM_020379 NP_065112 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 77 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(1) 1 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) CCCGGCCCGCGAGCAGGAGCC 0.617 6 10 --- --- --- --- PASS PUM1 9698 broad.mit.edu 37 1 31447598 31447598 + Missense_Mutation SNP T G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:31447598T>G uc001bsi.1 - 10 1519 c.1406A>C c.(1405-1407)TAC>TCC p.Y469S PUM1_uc001bsf.1_Missense_Mutation_p.Y135S|PUM1_uc001bsg.1_Missense_Mutation_p.Y282S|PUM1_uc001bsh.1_Missense_Mutation_p.Y469S|PUM1_uc001bsj.1_Missense_Mutation_p.Y470S|PUM1_uc010oga.1_Missense_Mutation_p.Y373S|PUM1_uc001bsk.1_Missense_Mutation_p.Y505S|PUM1_uc010ogb.1_Missense_Mutation_p.Y410S NM_014676 NP_055491 Q14671 PUM1_HUMAN pumilio 1 isoform 2 469 Ala-rich. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) ACTGGCAGGGTAGACTCCCCA 0.517 4 34 --- --- --- --- PASS COL9A2 1298 broad.mit.edu 37 1 40775613 40775613 + Silent SNP G A A rs140305893 TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:40775613G>A uc001cfh.1 - 16 913 c.843C>T c.(841-843)GAC>GAT p.D281D COL9A2_uc001cfi.1_Silent_p.D100D NM_001852 NP_001843 Q14055 CO9A2_HUMAN alpha 2 type IX collagen precursor 281 Triple-helical region 3 (COL3). axon guidance|skeletal system development collagen type IX ovary(2) 2 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) GACTCACCTCGTCACCCTTCT 0.557 53 72 --- --- --- --- PASS KDM4A 9682 broad.mit.edu 37 1 44169289 44169289 + Missense_Mutation SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:44169289G>C uc001cjx.2 + 20 3009 c.2843G>C c.(2842-2844)AGC>ACC p.S948T uc001cjy.2_RNA|ST3GAL3_uc009vwu.1_5'Flank|KDM4A_uc010oki.1_Intron NM_014663 NP_055478 O75164 KDM4A_HUMAN jumonji domain containing 2A 948 Tudor 1. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding skin(1) 1 TTTCCTCAGAGCCAGGACTGT 0.532 8 227 --- --- --- --- PASS RNF220 55182 broad.mit.edu 37 1 44878026 44878026 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:44878026G>T uc001clv.1 + 2 617 c.257G>T c.(256-258)CGT>CTT p.R86L RNF220_uc001clw.1_Missense_Mutation_p.R86L NM_018150 NP_060620 Q5VTB9 RN220_HUMAN ring finger protein 220 86 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 TTTGCCAATCGTGATTTCCCC 0.502 119 234 --- --- --- --- PASS IPP 3652 broad.mit.edu 37 1 46180008 46180008 + Silent SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:46180008C>A uc001cou.2 - 8 1707 c.1440G>T c.(1438-1440)GTG>GTT p.V480V IPP_uc001cos.3_Silent_p.V480V NM_005897 NP_005888 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 480 Kelch 4. actin cytoskeleton|cytoplasm actin binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TGAGTGCAGCCACACCAAGAT 0.428 4 73 --- --- --- --- PASS PCSK9 255738 broad.mit.edu 37 1 55529216 55529216 + Missense_Mutation SNP C G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:55529216C>G uc001cyf.1 + 12 2329 c.2038C>G c.(2038-2040)CGG>GGG p.R680G PCSK9_uc010oom.1_RNA NM_174936 NP_777596 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 680 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding ovary(2)|central_nervous_system(1)|skin(1) 4 CATCTGCTGCCGGAGCCGGCA 0.652 14 32 --- --- --- --- PASS HOOK1 51361 broad.mit.edu 37 1 60314155 60314155 + Silent SNP A T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:60314155A>T uc009wad.2 + 12 1200 c.1098A>T c.(1096-1098)GCA>GCT p.A366A HOOK1_uc001czo.2_Silent_p.A366A|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Silent_p.A324A NM_015888 NP_056972 Q9UJC3 HOOK1_HUMAN hook homolog 1 366 Potential.|Sufficient for interaction with microtubules. early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding ovary(1)|breast(1) 2 all_cancers(7;0.000129) AAGCAAATGCAGCACGTACAC 0.308 38 78 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103471438 103471438 + Missense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:103471438C>T uc001dul.2 - 18 2119 c.1801G>A c.(1801-1803)GGG>AGG p.G601R COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.G613R|COL11A1_uc001dun.2_Missense_Mutation_p.G562R|COL11A1_uc009weh.2_Missense_Mutation_p.G485R NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 601 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCATCAAACCCTCGATCTCCC 0.318 61 103 --- --- --- --- PASS CELSR2 1952 broad.mit.edu 37 1 109793500 109793500 + Missense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:109793500C>T uc001dxa.3 + 1 860 c.799C>T c.(799-801)CCC>TCC p.P267S NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 267 Cadherin 1.|Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CCACGGCATGCCCCGACGAAG 0.597 21 45 --- --- --- --- PASS LRIG2 9860 broad.mit.edu 37 1 113637058 113637058 + Missense_Mutation SNP A G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:113637058A>G uc001edf.1 + 5 811 c.613A>G c.(613-615)AGC>GGC p.S205G LRIG2_uc009wgn.1_Missense_Mutation_p.S102G NM_014813 NP_055628 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like 205 LRR 6.|Extracellular (Potential). cytoplasm|integral to membrane|plasma membrane ovary(3) 3 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) TAACCGAATGAGCATGATTCC 0.368 3 122 --- --- --- --- PASS NOTCH2 4853 broad.mit.edu 37 1 120483184 120483184 + Missense_Mutation SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:120483184G>C uc001eik.2 - 19 3433 c.3177C>G c.(3175-3177)AAC>AAG p.N1059K NOTCH2_uc001eil.2_Missense_Mutation_p.N1059K NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 1059 Extracellular (Potential).|EGF-like 27; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TTACCTGACAGTTTTTCCCAG 0.478 N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 3 153 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144879561 144879561 + Missense_Mutation SNP A G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:144879561A>G uc001elw.3 - 27 4180 c.3889T>C c.(3889-3891)TGT>CGT p.C1297R NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.C1253R|PDE4DIP_uc001elv.3_Missense_Mutation_p.C304R NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1297 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGCTCCTCACACTCTGAAAAA 0.502 T PDGFRB MPD 3 127 --- --- --- --- PASS LINGO4 339398 broad.mit.edu 37 1 151774208 151774208 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:151774208C>A uc001ezf.1 - 2 1163 c.973G>T c.(973-975)GCC>TCC p.A325S NM_001004432 NP_001004432 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 325 Extracellular (Potential).|LRR 11. integral to membrane large_intestine(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) AGGTGGAAGGCAGTCAAGCCA 0.597 4 117 --- --- --- --- PASS CRNN 49860 broad.mit.edu 37 1 152383038 152383038 + Nonsense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:152383038G>A uc001ezx.2 - 3 594 c.520C>T c.(520-522)CAG>TAG p.Q174* NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN cornulin 174 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTGGCTCTGGGACTCAGCT 0.577 136 216 --- --- --- --- PASS LCE1A 353131 broad.mit.edu 37 1 152800058 152800058 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:152800058G>T uc010pdw.1 + 1 110 c.110G>T c.(109-111)TGC>TTC p.C37F NM_178348 NP_848125 Q5T7P2 LCE1A_HUMAN late cornified envelope 1A 37 Cys-rich. keratinization ovary(1)|skin(1) 2 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ccccctaagtgcccTCCAGTC 0.433 31 65 --- --- --- --- PASS DENND4B 9909 broad.mit.edu 37 1 153906318 153906318 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:153906318G>A uc001fdd.1 - 20 3372 c.2971C>T c.(2971-2973)CGG>TGG p.R991W uc001fdc.1_Intron NM_014856 NP_055671 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 991 ovary(1) 1 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGTGATCCCCGGGGTTCCAGG 0.612 17 26 --- --- --- --- PASS RUSC1 23623 broad.mit.edu 37 1 155291733 155291733 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:155291733G>A uc001fkj.2 + 2 398 c.169G>A c.(169-171)GGC>AGC p.G57S RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.G57S|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank NM_001105203 NP_001098673 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 isoform a 57 cytoplasm|nucleolus SH3/SH2 adaptor activity ovary(2) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) CCCCTGCAGTGGCACCCTGGT 0.672 13 26 --- --- --- --- PASS GON4L 54856 broad.mit.edu 37 1 155823173 155823173 + Silent SNP T C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:155823173T>C uc001flz.2 - 2 496 c.399A>G c.(397-399)AAA>AAG p.K133K GON4L_uc001fly.1_Silent_p.K133K|GON4L_uc009wrh.1_Silent_p.K133K|GON4L_uc001fma.1_Silent_p.K133K|GON4L_uc001fmc.2_Silent_p.K133K|GON4L_uc001fmd.3_Silent_p.K133K|GON4L_uc009wri.2_5'UTR NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 133 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(3) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TGAGTGTCATTTTTTTCCCTC 0.463 9 213 --- --- --- --- PASS ETV3L 440695 broad.mit.edu 37 1 157069063 157069063 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:157069063G>T uc001fqq.1 - 2 451 c.166C>A c.(166-168)CAT>AAT p.H56N NM_001004341 NP_001004341 Q6ZN32 ETV3L_HUMAN ets variant 3-like 56 ETS. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(266;0.158) Prostate(1639;0.184) GCGATGACATGGCGGAACTCT 0.592 20 43 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176661335 176661335 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:176661335G>T uc001gkz.2 + 6 3669 c.2505G>T c.(2503-2505)CAG>CAT p.Q835H PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 835 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 TAGTCTATCAGCAGTGGACTG 0.498 71 136 --- --- --- --- PASS FAM5C 339479 broad.mit.edu 37 1 190195367 190195367 + Missense_Mutation SNP C G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:190195367C>G uc001gse.1 - 6 1038 c.806G>C c.(805-807)GGA>GCA p.G269A FAM5C_uc010pot.1_Missense_Mutation_p.G167A NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 269 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) GATAAACTCTCCCTCTGAATT 0.443 22 61 --- --- --- --- PASS ASPM 259266 broad.mit.edu 37 1 197091418 197091418 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:197091418C>A uc001gtu.2 - 15 3869 c.3612G>T c.(3610-3612)GAG>GAT p.E1204D ASPM_uc001gtv.2_Missense_Mutation_p.E1204D|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 1204 CH 2. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 CTTTGTATAGCTCTGAAGTAT 0.368 13 25 --- --- --- --- PASS GPR37L1 9283 broad.mit.edu 37 1 202092290 202092290 + Missense_Mutation SNP T A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:202092290T>A uc001gxj.2 + 1 262 c.199T>A c.(199-201)TAC>AAC p.Y67N NM_004767 NP_004758 O60883 ETBR2_HUMAN G-protein coupled receptor 37 like 1 precursor 67 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|central_nervous_system(1) 2 GTGGGCGGAGTACCCCCGGCC 0.672 15 7 --- --- --- --- PASS LAX1 54900 broad.mit.edu 37 1 203743235 203743235 + Missense_Mutation SNP C G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:203743235C>G uc001haa.2 + 5 1033 c.623C>G c.(622-624)TCT>TGT p.S208C LAX1_uc010pql.1_Missense_Mutation_p.S192C|LAX1_uc001hab.2_Missense_Mutation_p.S132C NM_017773 NP_060243 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 isoform a 208 Cytoplasmic (Potential). B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2) 2 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) ACTCTAGCTTCTACCAAAAGC 0.478 29 59 --- --- --- --- PASS TRAF3IP3 80342 broad.mit.edu 37 1 209936905 209936905 + Silent SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:209936905G>A uc001hho.2 + 8 965 c.675G>A c.(673-675)CTG>CTA p.L225L TRAF3IP3_uc001hhl.2_Silent_p.L205L|TRAF3IP3_uc001hhm.1_Silent_p.L225L|TRAF3IP3_uc001hhn.2_Silent_p.L205L|TRAF3IP3_uc009xcr.2_Silent_p.L225L NM_025228 NP_079504 Q9Y228 T3JAM_HUMAN TRAF3-interacting JNK-activating modulator 225 Cytoplasmic (Potential). integral to membrane protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.045) TGTCCACTCTGATTCAGGCCT 0.473 24 34 --- --- --- --- PASS C1orf65 164127 broad.mit.edu 37 1 223567028 223567028 + Missense_Mutation SNP C G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:223567028C>G uc001hoa.2 + 1 314 c.211C>G c.(211-213)CGC>GGC p.R71G NM_152610 NP_689823 Q8N715 CA065_HUMAN hypothetical protein LOC164127 71 Arg-rich. central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0704) CCCGCGGCCTCGCAGGCGCGG 0.726 9 12 --- --- --- --- PASS ACTN2 88 broad.mit.edu 37 1 236881198 236881198 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:236881198G>A uc001hyf.2 + 2 371 c.167G>A c.(166-168)GGC>GAC p.G56D ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Missense_Mutation_p.G56D NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 56 CH 1.|Actin-binding. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) AGGAAAGCCGGCACCCAGATT 0.478 3 50 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240255893 240255893 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:240255893G>T uc010pyd.1 + 1 709 c.484G>T c.(484-486)GAT>TAT p.D162Y FMN2_uc010pye.1_Missense_Mutation_p.D162Y NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 162 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GATCGCCGAGGATGTGGAAAC 0.642 15 32 --- --- --- --- PASS OR2M4 26245 broad.mit.edu 37 1 248402703 248402703 + Missense_Mutation SNP T C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:248402703T>C uc010pzh.1 + 1 473 c.473T>C c.(472-474)ATA>ACA p.I158T NM_017504 NP_059974 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GATGGGATCATAGTGCTTGCA 0.458 63 103 --- --- --- --- PASS OR2T4 127074 broad.mit.edu 37 1 248525386 248525386 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:248525386G>T uc001ieh.1 + 1 504 c.504G>T c.(502-504)ATG>ATT p.M168I NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 168 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTGTCCTCATGAACCATAGGG 0.537 78 161 --- --- --- --- PASS ASAP2 8853 broad.mit.edu 37 2 9531254 9531254 + Missense_Mutation SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr2:9531254G>C uc002qzh.2 + 23 2787 c.2447G>C c.(2446-2448)AGC>ACC p.S816T ASAP2_uc002qzi.2_Intron NM_003887 NP_003878 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 816 Pro-rich. regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding 0 GACGGTGGAAGCCGGCAGCGA 0.448 10 162 --- --- --- --- PASS FAM84A 151354 broad.mit.edu 37 2 14774494 14774494 + Missense_Mutation SNP C G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr2:14774494C>G uc002rbz.1 + 2 633 c.391C>G c.(391-393)CTG>GTG p.L131V FAM84A_uc002rca.1_5'Flank NM_145175 NP_660158 Q96KN4 FA84A_HUMAN family with sequence similarity 84, member A 131 pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(1;0.00969) GCTGCTGTGGCTGCAgcccgc 0.577 11 4 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21232182 21232182 + Nonsense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr2:21232182G>A uc002red.2 - 26 7686 c.7558C>T c.(7558-7560)CGA>TGA p.R2520* NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2520 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 p.R2520*(1) 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) ATTCGGTCTCGTGTATCTTCT 0.428 20 39 --- --- --- --- PASS MTA3 57504 broad.mit.edu 37 2 42871302 42871302 + Silent SNP A G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr2:42871302A>G uc002rso.1 + 7 919 c.249A>G c.(247-249)TCA>TCG p.S83S MTA3_uc002rsp.1_Silent_p.S83S|MTA3_uc002rsq.2_Silent_p.S139S|MTA3_uc002rsr.2_Silent_p.S139S NM_020744 NP_065795 Q9BTC8 MTA3_HUMAN metastasis associated 1 family, member 3 139 BAH. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 ATGACCCCTCATTGAAAACAC 0.353 25 52 --- --- --- --- PASS PLEK 5341 broad.mit.edu 37 2 68621263 68621263 + Missense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr2:68621263C>T uc002sen.3 + 8 1033 c.871C>T c.(871-873)CAC>TAC p.H291Y PLEK_uc010fde.2_Silent_p.F289F NM_002664 NP_002655 P08567 PLEK_HUMAN pleckstrin 291 PH 2. actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding ovary(1) 1 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) GGGAGCAATTCACTTGAGAGG 0.458 65 116 --- --- --- --- PASS PLEK 5341 broad.mit.edu 37 2 68621303 68621303 + Missense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr2:68621303C>T uc002sen.3 + 8 1073 c.911C>T c.(910-912)TCA>TTA p.S304L PLEK_uc010fde.2_3'UTR NM_002664 NP_002655 P08567 PLEK_HUMAN pleckstrin 304 PH 2. actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding ovary(1) 1 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) GAGAGCAACTCAAATGGTAAG 0.453 50 102 --- --- --- --- PASS ANTXR1 84168 broad.mit.edu 37 2 69271902 69271902 + Missense_Mutation SNP T C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr2:69271902T>C uc002sfg.2 + 3 609 c.253T>C c.(253-255)TTC>CTC p.F85L ANTXR1_uc002sfe.2_Missense_Mutation_p.F85L|ANTXR1_uc002sff.2_Missense_Mutation_p.F85L|ANTXR1_uc002sfd.2_Missense_Mutation_p.F85L NM_032208 NP_115584 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 isoform 1 precursor 85 Extracellular (Potential).|VWFA. actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity ovary(2)|skin(2) 4 CTTTATTGTTTTCTCCACCCG 0.453 Familial_Infantile_Hemangioma 36 86 --- --- --- --- PASS PTCD3 55037 broad.mit.edu 37 2 86361473 86361473 + Silent SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr2:86361473C>A uc002sqw.2 + 20 1668 c.1602C>A c.(1600-1602)CTC>CTA p.L534L PTCD3_uc002sqx.1_Silent_p.L124L|SNORD94_uc010fgr.1_5'Flank NM_017952 NP_060422 Q96EY7 PTCD3_HUMAN pentatricopeptide repeat domain 3 precursor 534 mitochondrion protein binding ovary(1) 1 TCCTGATGCTCATGGCAAGGG 0.448 15 37 --- --- --- --- PASS AFF3 3899 broad.mit.edu 37 2 100209739 100209739 + Missense_Mutation SNP T C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr2:100209739T>C uc002tag.2 - 14 2620 c.2384A>G c.(2383-2385)AAG>AGG p.K795R AFF3_uc002taf.2_Missense_Mutation_p.K820R|AFF3_uc010fiq.1_Missense_Mutation_p.K795R|AFF3_uc010yvr.1_Missense_Mutation_p.K948R|AFF3_uc002tah.1_Missense_Mutation_p.K820R NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 795 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 CTCAGAGTCCTTGGTGGCAGG 0.597 24 42 --- --- --- --- PASS SLC9A2 6549 broad.mit.edu 37 2 103318900 103318900 + Missense_Mutation SNP C G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr2:103318900C>G uc002tca.2 + 9 1926 c.1784C>G c.(1783-1785)TCC>TGC p.S595C NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN solute carrier family 9 (sodium/hydrogen 595 Cytoplasmic (Potential). integral to membrane|plasma membrane sodium:hydrogen antiporter activity central_nervous_system(3)|skin(3)|breast(2) 8 AAGGTCACGTCCAGTGAAACT 0.303 40 90 --- --- --- --- PASS FAM123C 205147 broad.mit.edu 37 2 131519750 131519750 + Silent SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr2:131519750C>A uc002trw.2 + 2 295 c.105C>A c.(103-105)GGC>GGA p.G35G FAM123C_uc010fmv.2_Silent_p.G35G|FAM123C_uc010fms.1_Silent_p.G35G|FAM123C_uc010fmt.1_Silent_p.G35G|FAM123C_uc010fmu.1_Silent_p.G35G NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 35 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) AGGGGACAGGCCCCTGGTCAG 0.617 9 7 --- --- --- --- PASS FAP 2191 broad.mit.edu 37 2 163044862 163044862 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr2:163044862G>T uc002ucd.2 - 20 1839 c.1631C>A c.(1630-1632)CCC>CAC p.P544H FAP_uc010fpc.2_Missense_Mutation_p.P93H|FAP_uc010zct.1_Missense_Mutation_p.P519H|FAP_uc010fpd.2_Missense_Mutation_p.P23H NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 544 Extracellular (Potential). endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity ovary(3) 3 CTGACTGCAGGGACCACCATA 0.403 25 26 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170044654 170044654 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr2:170044654C>A uc002ues.2 - 49 9367 c.9154G>T c.(9154-9156)GAT>TAT p.D3052Y NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 3052 LDL-receptor class A 24.|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) TTATCCTCATCACAGACGAAG 0.512 51 73 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179400049 179400049 + Missense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr2:179400049C>T uc010zfg.1 - 307 93813 c.93589G>A c.(93589-93591)GAA>AAA p.E31197K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E24892K|TTN_uc010zfi.1_Missense_Mutation_p.E24825K|TTN_uc010zfj.1_Missense_Mutation_p.E24700K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32124 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) AATTTATTTTCAGCTATTACC 0.423 69 117 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179418006 179418006 + Missense_Mutation SNP C G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr2:179418006C>G uc010zfg.1 - 284 82141 c.81917G>C c.(81916-81918)AGA>ACA p.R27306T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R21001T|TTN_uc010zfi.1_Missense_Mutation_p.R20934T|TTN_uc010zfj.1_Missense_Mutation_p.R20809T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 28233 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) CTCATCTTTTCTCCATGTGAC 0.428 88 143 --- --- --- --- PASS COL5A2 1290 broad.mit.edu 37 2 189975051 189975051 + Missense_Mutation SNP T C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr2:189975051T>C uc002uqk.2 - 2 497 c.222A>G c.(220-222)ATA>ATG p.I74M NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 74 VWFC. axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCTGGCATTCTATCTTGTCAC 0.507 42 64 --- --- --- --- PASS FZD7 8324 broad.mit.edu 37 2 202900175 202900175 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr2:202900175C>A uc002uyw.1 + 1 866 c.805C>A c.(805-807)CTC>ATC p.L269I NM_003507 NP_003498 O75084 FZD7_HUMAN frizzled 7 precursor 269 Helical; Name=1; (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(2)|ovary(1)|breast(1) 4 CGCCTCGACGCTCTTTACCGT 0.642 OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 194 --- --- --- --- PASS PARD3B 117583 broad.mit.edu 37 2 206041301 206041301 + Missense_Mutation SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr2:206041301G>C uc002var.1 + 13 2131 c.1924G>C c.(1924-1926)GGT>CGT p.G642R PARD3B_uc010fub.1_Missense_Mutation_p.G642R|PARD3B_uc002vao.1_Missense_Mutation_p.G642R|PARD3B_uc002vap.1_Missense_Mutation_p.G580R|PARD3B_uc002vaq.1_Missense_Mutation_p.G642R NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 642 cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CAAACAGAAAGGTAAGAGTCT 0.353 11 38 --- --- --- --- PASS UNC80 285175 broad.mit.edu 37 2 210642034 210642034 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr2:210642034C>A uc010zjc.1 + 4 431 c.351C>A c.(349-351)CAC>CAA p.H117Q UNC80_uc002vdj.1_Missense_Mutation_p.H117Q NM_032504 NP_115893 Q8N2C7 UNC80_HUMAN chromosome 2 open reading frame 21 isoform 1 117 integral to membrane 0 ACACTCTACACTGGATGCTTC 0.542 40 89 --- --- --- --- PASS TMBIM1 64114 broad.mit.edu 37 2 219143279 219143279 + Missense_Mutation SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr2:219143279G>C uc002vho.1 - 7 1158 c.432C>G c.(430-432)TTC>TTG p.F144L PNKD_uc002vhn.2_Intron|TMBIM1_uc002vhp.1_Missense_Mutation_p.F144L|TMBIM1_uc010zjz.1_5'UTR|TMBIM1_uc010zka.1_Missense_Mutation_p.F33L NM_022152 NP_071435 Q969X1 TMBI1_HUMAN transmembrane BAX inhibitor motif containing 1 144 Helical; (Potential). integral to membrane 0 Renal(207;0.0474) Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGGTGACAACGAAGACAGCAC 0.587 29 36 --- --- --- --- PASS TTLL4 9654 broad.mit.edu 37 2 219609911 219609911 + Missense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr2:219609911C>T uc002viy.2 + 6 2111 c.1741C>T c.(1741-1743)CCC>TCC p.P581S TTLL4_uc010zkl.1_Missense_Mutation_p.P416S|TTLL4_uc010fvx.2_Missense_Mutation_p.P581S|TTLL4_uc010zkm.1_5'Flank NM_014640 NP_055455 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 581 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity ovary(2)|skin(1) 3 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) CAGTCTCTTTCCCAACGTTCC 0.493 63 119 --- --- --- --- PASS SLC4A3 6508 broad.mit.edu 37 2 220501117 220501117 + Missense_Mutation SNP T C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr2:220501117T>C uc002vmp.3 + 15 2554 c.2285T>C c.(2284-2286)CTG>CCG p.L762P SLC4A3_uc002vmo.3_Missense_Mutation_p.L789P|SLC4A3_uc010fwm.2_Missense_Mutation_p.L312P|SLC4A3_uc010fwn.1_Missense_Mutation_p.L271P NM_005070 NP_005061 P48751 B3A3_HUMAN solute carrier family 4, anion exchanger, member 762 Helical; (Potential).|Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 5 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTCAGCCGCTGCTTGTGGTT 0.617 37 38 --- --- --- --- PASS C2orf52 151477 broad.mit.edu 37 2 232374028 232374028 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr2:232374028C>A uc002vrx.1 - 3 391 c.63G>T c.(61-63)AGG>AGT p.R21S NR_024079 RecName: Full=Uncharacterized protein C2orf52; 0 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;5.72e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014) TGGTATTCTTCCTGCAATTCT 0.478 45 63 --- --- --- --- PASS SEPT2 4735 broad.mit.edu 37 2 242274555 242274555 + Nonsense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr2:242274555G>T uc002wbc.2 + 5 566 c.145G>T c.(145-147)GGA>TGA p.G49* SEPT2_uc002wbd.2_Nonsense_Mutation_p.G49*|SEPT2_uc002wbf.2_Nonsense_Mutation_p.G49*|SEPT2_uc002wbg.2_Nonsense_Mutation_p.G49*|SEPT2_uc002wbh.2_Nonsense_Mutation_p.G49*|SEPT2_uc010zop.1_Nonsense_Mutation_p.G84* NM_001008491 NP_001008491 Q15019 SEPT2_HUMAN septin 2 49 GTP. cell division|mitosis actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle GTP binding central_nervous_system(1) 1 all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889) ATCAGGTCTAGGAAAATCGAC 0.289 7 31 --- --- --- --- PASS FARP2 9855 broad.mit.edu 37 2 242371150 242371150 + Silent SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr2:242371150G>A uc002wbi.1 + 9 945 c.828G>A c.(826-828)AAG>AAA p.K276K FARP2_uc010zoq.1_Silent_p.K276K|FARP2_uc010zor.1_Silent_p.K276K NM_014808 NP_055623 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 276 FERM. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) TAAGCTTCAAGAGGAAAAGAT 0.299 40 55 --- --- --- --- PASS CYP8B1 1582 broad.mit.edu 37 3 42916392 42916392 + Missense_Mutation SNP C T T rs148690797 TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr3:42916392C>T uc003cmh.2 - 1 1242 c.917G>A c.(916-918)CGG>CAG p.R306Q CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Missense_Mutation_p.R306Q NM_004391 NP_004382 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, 306 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) CCTCACAGCCCGAATAGCTTC 0.587 11 9 --- --- --- --- PASS CCR2 729230 broad.mit.edu 37 3 46399319 46399319 + Missense_Mutation SNP T C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr3:46399319T>C uc003cpn.3 + 2 786 c.301T>C c.(301-303)TCT>CCT p.S101P CCR2_uc003cpm.3_Missense_Mutation_p.S101P NM_001123041 NP_001116513 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 isoform A 101 Extracellular (Potential). astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity lung(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) GTGGGCTCACTCTGCTGCAAA 0.433 111 170 --- --- --- --- PASS ALS2CL 259173 broad.mit.edu 37 3 46724759 46724759 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr3:46724759C>A uc003cqa.1 - 10 1160 c.970G>T c.(970-972)GAC>TAC p.D324Y ALS2CL_uc003cpz.1_5'Flank|ALS2CL_uc003cqb.1_Missense_Mutation_p.D324Y|ALS2CL_uc003cqc.1_RNA NM_147129 NP_667340 Q60I27 AL2CL_HUMAN ALS2 C-terminal like isoform 1 324 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) ACGGGGAAGTCCTTCTTCCCA 0.667 14 9 --- --- --- --- PASS SETD2 29072 broad.mit.edu 37 3 47142990 47142990 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr3:47142990G>A uc003cqs.2 - 8 5026 c.4973C>T c.(4972-4974)TCA>TTA p.S1658L SETD2_uc003cqv.2_Missense_Mutation_p.S1725L NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 1658 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CTCTGAGCCTGAAGGAACCAG 0.378 N|F|S|Mis clear cell renal carcinoma 90 71 --- --- --- --- PASS SLC25A20 788 broad.mit.edu 37 3 48895967 48895967 + Silent SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr3:48895967C>T uc003cva.3 - 8 991 c.816G>A c.(814-816)GTG>GTA p.V272V SLC25A20_uc011bbw.1_Silent_p.V222V|SLC25A20_uc010hkj.2_Silent_p.V199V NM_000387 NP_000378 O43772 MCAT_HUMAN carnitine/acylcarnitine translocase 272 Solcar 3.|Helical; Name=6; (Potential). carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation integral to membrane|mitochondrial inner membrane acyl carnitine transporter activity 0 BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) L-Carnitine(DB00583) CTCGGATCATCACTGCATTGA 0.537 50 32 --- --- --- --- PASS MAGI1 9223 broad.mit.edu 37 3 65365050 65365050 + Missense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr3:65365050C>T uc003dmn.2 - 17 3407 c.2881G>A c.(2881-2883)GTG>ATG p.V961M MAGI1_uc003dmm.2_Missense_Mutation_p.V989M|MAGI1_uc003dmo.2_Missense_Mutation_p.V989M|MAGI1_uc003dmp.2_Missense_Mutation_p.V961M|MAGI1_uc003dmq.1_RNA|MAGI1_uc010hnx.1_Missense_Mutation_p.V272M NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ 989 PDZ 5.|Interaction with FCHSD2. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1) 6 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GTGCTGACCAcgccgctgccc 0.493 13 6 --- --- --- --- PASS CRYBG3 131544 broad.mit.edu 37 3 97611834 97611834 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr3:97611834G>A uc003drx.2 + 8 1791 c.1727G>A c.(1726-1728)GGA>GAA p.G576E NM_153605 NP_705833 beta-gamma crystallin domain containing 3 0 GTCATTGGTGGAGTGTGAGTA 0.318 41 103 --- --- --- --- PASS OR5H2 79310 broad.mit.edu 37 3 98002463 98002463 + Silent SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr3:98002463C>A uc003dsj.1 + 1 732 c.732C>A c.(730-732)TCC>TCA p.S244S NM_001005482 NP_001005482 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, 244 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 AAGCCTTTTCCACCTGTGGAG 0.403 28 87 --- --- --- --- PASS CLDND1 56650 broad.mit.edu 37 3 98240031 98240031 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr3:98240031G>A uc003dsp.2 - 2 1118 c.238C>T c.(238-240)CGG>TGG p.R80W CLDND1_uc003dso.2_Missense_Mutation_p.R80W|CLDND1_uc003dsq.2_Missense_Mutation_p.R80W|CLDND1_uc003dss.2_Missense_Mutation_p.R80W|CLDND1_uc003dsr.2_Intron|CLDND1_uc003dst.2_Missense_Mutation_p.R103W|CLDND1_uc003dsu.2_Missense_Mutation_p.R80W|CLDND1_uc003dsv.2_Missense_Mutation_p.R80W NM_019895 NP_063948 Q9NY35 CLDN1_HUMAN claudin domain containing 1 protein isoform a 80 integral to membrane ovary(1) 1 GTGATACACCGTCTCCACAAT 0.383 53 131 --- --- --- --- PASS ZBTB20 26137 broad.mit.edu 37 3 114070355 114070355 + Silent SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr3:114070355C>T uc003ebi.2 - 4 750 c.570G>A c.(568-570)ACG>ACA p.T190T ZBTB20_uc003ebj.2_Silent_p.T117T|ZBTB20_uc010hqp.2_Silent_p.T117T|ZBTB20_uc003ebk.2_Silent_p.T117T|ZBTB20_uc003ebl.2_Silent_p.T117T|ZBTB20_uc003ebm.2_Silent_p.T117T|ZBTB20_uc003ebn.2_Silent_p.T117T|uc003ebo.1_5'Flank NM_015642 NP_056457 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 isoform 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) ACACGATGCGCGTGCACTCGT 0.637 22 65 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 3 129137108 129137108 + Missense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr3:129137108C>T uc003emg.2 - 3 833 c.670G>A c.(670-672)GCT>ACT p.A224T NM_207307 NP_997190 hypothetical protein LOC90288 GCCTTTACAGCCGCGATGAAC 0.562 33 24 --- --- --- --- PASS EPHB1 2047 broad.mit.edu 37 3 134851892 134851892 + Splice_Site SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr3:134851892G>C uc003eqt.2 + 5 1517 c.1297_splice c.e5+1 p.A433_splice EPHB1_uc003equ.2_Splice_Site NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 AACCAAGCCGGTAAGTCTGGA 0.567 13 43 --- --- --- --- PASS EPHB1 2047 broad.mit.edu 37 3 134881015 134881015 + Silent SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr3:134881015G>T uc003eqt.2 + 7 1798 c.1578G>T c.(1576-1578)CTG>CTT p.L526L EPHB1_uc003equ.2_Silent_p.L87L NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 526 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 TCCAGACTCTGACTGACGGTA 0.557 25 69 --- --- --- --- PASS ATR 545 broad.mit.edu 37 3 142241604 142241604 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr3:142241604C>A uc003eux.3 - 23 4354 c.4232G>T c.(4231-4233)AGC>ATC p.S1411I NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 1411 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 TTGAGCTCGGCTATTATCAGC 0.358 Other_conserved_DNA_damage_response_genes 83 233 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164906519 164906519 + Silent SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr3:164906519G>A uc003fej.3 - 2 2544 c.2100C>T c.(2098-2100)GGC>GGT p.G700G SLITRK3_uc003fek.2_Silent_p.G700G NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 700 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 GCATTTGGATGCCAGTAAGGT 0.453 HNSCC(40;0.11) 33 63 --- --- --- --- PASS MECOM 2122 broad.mit.edu 37 3 168807873 168807873 + Missense_Mutation SNP T C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr3:168807873T>C uc003ffi.3 - 14 3021 c.2752A>G c.(2752-2754)ACA>GCA p.T918A MECOM_uc010hwk.1_Missense_Mutation_p.T932A|MECOM_uc003ffj.3_Missense_Mutation_p.T983A|MECOM_uc011bpi.1_Missense_Mutation_p.T910A|MECOM_uc003ffn.3_Missense_Mutation_p.T918A|MECOM_uc003ffk.2_Missense_Mutation_p.T909A|MECOM_uc003ffl.2_Missense_Mutation_p.T1069A|MECOM_uc011bpj.1_Missense_Mutation_p.T1106A|MECOM_uc011bpk.1_Missense_Mutation_p.T908A NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 918 Asp/Glu-rich (acidic). apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 AAATTACTTGTCACTGGTTCC 0.433 58 207 --- --- --- --- PASS MECOM 2122 broad.mit.edu 37 3 168807874 168807874 + Silent SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr3:168807874C>A uc003ffi.3 - 14 3020 c.2751G>T c.(2749-2751)GTG>GTT p.V917V MECOM_uc010hwk.1_Silent_p.V931V|MECOM_uc003ffj.3_Silent_p.V982V|MECOM_uc011bpi.1_Silent_p.V909V|MECOM_uc003ffn.3_Silent_p.V917V|MECOM_uc003ffk.2_Silent_p.V908V|MECOM_uc003ffl.2_Silent_p.V1068V|MECOM_uc011bpj.1_Silent_p.V1105V|MECOM_uc011bpk.1_Silent_p.V907V NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 917 Asp/Glu-rich (acidic). apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 AATTACTTGTCACTGGTTCCT 0.433 59 207 --- --- --- --- PASS CHRD 8646 broad.mit.edu 37 3 184100484 184100484 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr3:184100484C>A uc003fov.2 + 8 1150 c.904C>A c.(904-906)CTG>ATG p.L302M CHRD_uc003fow.2_Translation_Start_Site|CHRD_uc003fox.2_Missense_Mutation_p.L302M|CHRD_uc003foy.2_Translation_Start_Site|CHRD_uc010hyc.2_Translation_Start_Site|CHRD_uc011brr.1_Translation_Start_Site NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN chordin precursor 302 CHRD 2. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding skin(2)|ovary(1) 3 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGGCATCACCCTGCTCACTCT 0.592 89 67 --- --- --- --- PASS KIAA0226 9711 broad.mit.edu 37 3 197431510 197431510 + Silent SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr3:197431510G>T uc003fyc.2 - 4 549 c.366C>A c.(364-366)GCC>GCA p.A122A KIAA0226_uc003fyd.3_Silent_p.A62A|KIAA0226_uc003fye.1_5'Flank|KIAA0226_uc003fyf.2_5'UTR|KIAA0226_uc003fyg.2_Silent_p.A115A NM_014687 NP_055502 Q92622 RUBIC_HUMAN hypothetical protein LOC9711 isoform 2. 122 RUN. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding 0 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) GCCACAGCTCGGCAACAGCAC 0.557 4 91 --- --- --- --- PASS ARAP2 116984 broad.mit.edu 37 4 36135012 36135012 + Splice_Site SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr4:36135012C>T uc003gsq.1 - 20 3602 c.3264_splice c.e20-1 p.R1088_splice NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 GTATAATGTTCTGTAAAGTTT 0.338 21 9 --- --- --- --- PASS KDR 3791 broad.mit.edu 37 4 55958788 55958788 + Missense_Mutation SNP C G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr4:55958788C>G uc003has.2 - 22 3367 c.3065G>C c.(3064-3066)CGA>CCA p.R1022P KDR_uc003hat.1_Missense_Mutation_p.R1022P NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 1022 Protein kinase.|Cytoplasmic (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TCTTACCTTTCGCGATGCCAA 0.458 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 17 19 --- --- --- --- PASS CDS1 1040 broad.mit.edu 37 4 85530642 85530642 + Silent SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr4:85530642G>A uc011ccv.1 + 3 804 c.306G>A c.(304-306)CTG>CTA p.L102L NM_001263 NP_001254 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase 1 102 Helical; (Potential). signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity large_intestine(2)|ovary(1)|breast(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) TGTTTTTCCTGATCATCTATA 0.343 50 29 --- --- --- --- PASS LEF1 51176 broad.mit.edu 37 4 109002749 109002749 + Missense_Mutation SNP T C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr4:109002749T>C uc003hyt.1 - 6 1370 c.715A>G c.(715-717)ATG>GTG p.M239V LEF1_uc011cfj.1_Intron|LEF1_uc011cfk.1_Intron|LEF1_uc003hyu.1_Intron|LEF1_uc003hyv.1_Intron|LEF1_uc010imb.1_RNA|LEF1_uc003hyw.1_5'Flank NM_016269 NP_057353 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 isoform 1 239 Pro-rich. canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding large_intestine(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000224) TACCTGGACATGGAAGTGTCG 0.557 17 6 --- --- --- --- PASS ALPK1 80216 broad.mit.edu 37 4 113351678 113351678 + Silent SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr4:113351678G>A uc003iap.3 + 11 1254 c.975G>A c.(973-975)CTG>CTA p.L325L ALPK1_uc003ian.3_Silent_p.L325L|ALPK1_uc011cfx.1_Silent_p.L247L|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Silent_p.L153L NM_025144 NP_079420 Q96QP1 ALPK1_HUMAN alpha-kinase 1 325 ATP binding|protein serine/threonine kinase activity ovary(5) 5 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) ACTTACATCTGTGTGAAGCCA 0.428 30 17 --- --- --- --- PASS LARP7 51574 broad.mit.edu 37 4 113565913 113565913 + Nonsense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr4:113565913C>T uc003iay.2 + 2 366 c.88C>T c.(88-90)CGA>TGA p.R30* LARP7_uc003iaz.2_Nonsense_Mutation_p.R37*|LARP7_uc003iba.2_Translation_Start_Site|LARP7_uc003ibb.2_Nonsense_Mutation_p.R30* NM_016648 NP_057732 Q4G0J3 LARP7_HUMAN La ribonucleoprotein domain family, member 7 30 HTH La-type RNA-binding. RNA processing nucleoplasm|ribonucleoprotein complex nucleotide binding|RNA binding ovary(3) 3 Ovarian(17;0.0443)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000603) GAAACGGTCACGAGTTAAACA 0.373 4 69 --- --- --- --- PASS MIR1243 100302188 broad.mit.edu 37 4 114028028 114028028 + RNA SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr4:114028028G>T hsa-mir-1243|MI0006373 + c.10G>T ANK2_uc003ibd.3_Intron|ANK2_uc003ibe.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc003ibc.2_Intron|ANK2_uc011cgb.1_Intron 0 ACTAAAACTGGATCAATTATA 0.348 18 14 --- --- --- --- PASS SYNPO2 171024 broad.mit.edu 37 4 119979008 119979008 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr4:119979008G>T uc010inb.2 + 5 3901 c.3705G>T c.(3703-3705)ATG>ATT p.M1235I SYNPO2_uc011cgh.1_3'UTR|SYNPO2_uc010inc.2_Missense_Mutation_p.M1105I NM_133477 NP_597734 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform a Error:Variant_position_missing_in_Q9UMS6_after_alignment nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 TCATGTCCATGGAAACCAGGT 0.433 35 30 --- --- --- --- PASS PRDM5 11107 broad.mit.edu 37 4 121616416 121616416 + Silent SNP A T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr4:121616416A>T uc003idn.2 - 16 1993 c.1743T>A c.(1741-1743)GCT>GCA p.A581A PRDM5_uc003ido.2_Silent_p.A550A|PRDM5_uc010ine.2_3'UTR NM_018699 NP_061169 Q9NQX1 PRDM5_HUMAN PR domain containing 5 581 C2H2-type 15. histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 TCAGGCTAAAAGCCAAATCAC 0.358 25 14 --- --- --- --- PASS LRBA 987 broad.mit.edu 37 4 151773702 151773702 + Missense_Mutation SNP T C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr4:151773702T>C uc010ipj.2 - 23 3634 c.3160A>G c.(3160-3162)ATA>GTA p.I1054V LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Missense_Mutation_p.I1054V NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 1054 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) GCTTCTATTATGTCAGAAGAT 0.373 37 23 --- --- --- --- PASS ODZ3 55714 broad.mit.edu 37 4 183713537 183713537 + Silent SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr4:183713537C>A uc003ivd.1 + 25 5749 c.5712C>A c.(5710-5712)ACC>ACA p.T1904T NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1904 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CCATGCAGACCATCCGATCCA 0.542 36 16 --- --- --- --- PASS EXOC3 11336 broad.mit.edu 37 5 447756 447756 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr5:447756G>T uc003jba.2 + 3 381 c.253G>T c.(253-255)GAC>TAC p.D85Y NM_007277 NP_009208 O60645 EXOC3_HUMAN Sec6 protein 96 exocytosis|protein transport 0 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) CGTCAGCAAGGACTGGAGGCA 0.602 5 8 --- --- --- --- PASS PCDHA3 56145 broad.mit.edu 37 5 140182847 140182847 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr5:140182847C>A uc003lhf.2 + 1 2065 c.2065C>A c.(2065-2067)CCG>ACG p.P689T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.P689T NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 689 Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCACGGGCCCGGAAGCTGC 0.632 47 17 --- --- --- --- PASS PCDHA6 56142 broad.mit.edu 37 5 140208462 140208462 + Silent SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr5:140208462C>T uc003lho.2 + 1 813 c.786C>T c.(784-786)ATC>ATT p.I262I PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.I262I|PCDHA6_uc011dab.1_Silent_p.I262I NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 262 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACAGTTATCAGACTGAATG 0.413 10 73 --- --- --- --- PASS PCDHGA11 56105 broad.mit.edu 37 5 140801892 140801892 + Silent SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr5:140801892G>T uc003lkq.1 + 1 1356 c.1098G>T c.(1096-1098)GTG>GTT p.V366V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Silent_p.V366V|PCDHGA11_uc003lkp.1_Silent_p.V366V NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 366 Extracellular (Potential).|Cadherin 4. 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) CAGGTACAGTGATTGCTCTTC 0.373 3 31 --- --- --- --- PASS NR3C1 2908 broad.mit.edu 37 5 142680225 142680225 + Silent SNP C A A rs138266608 TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr5:142680225C>A uc003lmz.2 - 5 2064 c.1572G>T c.(1570-1572)ACG>ACT p.T524T NR3C1_uc003lmy.2_Silent_p.T525T|NR3C1_uc003lna.2_Silent_p.T524T|NR3C1_uc003lnb.2_Silent_p.T524T|NR3C1_uc011dbk.1_Silent_p.T127T|NR3C1_uc003lnc.2_Silent_p.T524T|NR3C1_uc003lnd.2_Silent_p.T524T|NR3C1_uc003lne.2_Silent_p.T524T|NR3C1_uc003lnf.2_Silent_p.T525T NM_000176 NP_000167 P04150 GCR_HUMAN glucocorticoid receptor isoform alpha 524 Hinge. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) GTTGTGGTAACGTTGCAGGAA 0.413 62 50 --- --- --- --- PASS NSD1 64324 broad.mit.edu 37 5 176696631 176696631 + Nonsense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr5:176696631C>T uc003mfr.3 + 16 5470 c.5332C>T c.(5332-5334)CGA>TGA p.R1778* NSD1_uc003mft.3_Nonsense_Mutation_p.R1509*|NSD1_uc003mfs.1_Nonsense_Mutation_p.R1675*|NSD1_uc011dfx.1_Nonsense_Mutation_p.R1426* NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1778 PWWP 2. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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)|Epithelial(233;0.198) Kidney(146;0.235) CTGCCATCCTCGAGCTGTTCC 0.468 T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 45 16 --- --- --- --- PASS TMED9 54732 broad.mit.edu 37 5 177019318 177019318 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr5:177019318G>A uc003mhx.2 + 1 106 c.103G>A c.(103-105)GGA>AGA p.G35R TMED9_uc010jko.2_RNA NM_017510 NP_059980 Q9BVK6 TMED9_HUMAN transmembrane emp24 protein transport domain 35 transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane 0 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) 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) GGCGACGCGCGGAAGCGCGCT 0.657 3 2 --- --- --- --- PASS BTNL9 153579 broad.mit.edu 37 5 180486569 180486569 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr5:180486569G>T uc003mmt.2 + 11 1546 c.1315G>T c.(1315-1317)GCG>TCG p.A439S NM_152547 NP_689760 Q6UXG8 BTNL9_HUMAN butyrophilin-like 9 precursor 439 Cytoplasmic (Potential).|B30.2/SPRY. integral to membrane ovary(1)|central_nervous_system(1) 2 all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCACCGCGTCGCGCTCACCCT 0.726 11 14 --- --- --- --- PASS ZNF193 7746 broad.mit.edu 37 6 28200375 28200375 + Silent SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr6:28200375C>T uc003nkq.1 + 4 719 c.604C>T c.(604-606)CTA>TTA p.L202L ZNF193_uc003nkr.1_Silent_p.L202L|ZNF193_uc010jqz.1_Silent_p.L253L NM_006299 NP_006290 O15535 ZN193_HUMAN zinc finger protein 193 202 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AGAGTTGGTGCTAAGGAAAGA 0.453 22 44 --- --- --- --- PASS LTA 4049 broad.mit.edu 37 6 31541240 31541240 + Missense_Mutation SNP T C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr6:31541240T>C uc011dnu.1 + 4 601 c.388T>C c.(388-390)TAC>CAC p.Y130H LTA_uc003nue.1_Missense_Mutation_p.Y130H|LTA_uc003nuf.2_Intron|LTA_uc003nuh.2_Intron|LTA_uc003nug.2_Intron|LTA_uc010jsr.2_Intron|TNF_uc003nui.2_5'Flank NM_001159740 NP_001153212 P01374 TNFB_HUMAN lymphotoxin alpha precursor 130 cell-cell signaling|induction of apoptosis|signal transduction extracellular space|membrane cytokine activity|tumor necrosis factor receptor binding 0 Etanercept(DB00005) CTCCCCACTCTACCTGGCCCA 0.587 101 28 --- --- --- --- PASS C6orf10 10665 broad.mit.edu 37 6 32261554 32261554 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr6:32261554C>A uc011dpy.1 - 12 1069 c.896G>T c.(895-897)GGA>GTA p.G299V C6orf10_uc011dpx.1_Missense_Mutation_p.G81V NM_006781 NP_006772 Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 299 integral to membrane skin(1) 1 TTTTGGTATTCCAGCGTCACT 0.408 228 78 --- --- --- --- PASS COL19A1 1310 broad.mit.edu 37 6 70909315 70909315 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr6:70909315G>A uc003pfc.1 + 49 3215 c.3098G>A c.(3097-3099)AGG>AAG p.R1033K NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 1033 cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 CATGAAGAGAGGATGGCTGTA 0.393 50 20 --- --- --- --- PASS MANEA 79694 broad.mit.edu 37 6 96054135 96054135 + Missense_Mutation SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr6:96054135G>C uc003poo.1 + 5 1383 c.1243G>C c.(1243-1245)GTT>CTT p.V415L NM_024641 NP_078917 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 415 Catalytic (Probable).|Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity ovary(2)|breast(1) 3 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) TGAAAAAGCTGTTCCCAAAAG 0.413 43 18 --- --- --- --- PASS PEX7 5191 broad.mit.edu 37 6 137187869 137187869 + Missense_Mutation SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr6:137187869G>C uc003qhd.2 + 6 733 c.631G>C c.(631-633)GAG>CAG p.E211Q PEX7_uc010kgx.2_RNA NM_000288 NP_000279 O00628 PEX7_HUMAN peroxisomal biogenesis factor 7 211 WD 4. ether lipid biosynthetic process|protein import into peroxisome matrix peroxisome peroxisome matrix targeting signal-2 binding 0 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492) TAAATACAATGAGGTATAGTG 0.403 10 38 --- --- --- --- PASS PDE10A 10846 broad.mit.edu 37 6 165829708 165829708 + Missense_Mutation SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr6:165829708G>C uc003qun.2 - 13 1271 c.1030C>G c.(1030-1032)CCA>GCA p.P344A PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.P274A|PDE10A_uc003quo.2_Missense_Mutation_p.P354A NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 344 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TAGGCATCTGGAATGTTCAGG 0.413 86 40 --- --- --- --- PASS RPS6KA2 6196 broad.mit.edu 37 6 166918039 166918039 + Missense_Mutation SNP T A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr6:166918039T>A uc003qvb.1 - 6 740 c.521A>T c.(520-522)CAT>CTT p.H174L RPS6KA2_uc011ego.1_Missense_Mutation_p.H85L|RPS6KA2_uc010kkl.1_Missense_Mutation_p.H85L|RPS6KA2_uc003qvc.1_Missense_Mutation_p.H182L|RPS6KA2_uc003qvd.1_Missense_Mutation_p.H199L NM_021135 NP_066958 Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 174 Protein kinase 1. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) GCTGTGGAGATGGTCTAAAGC 0.433 60 16 --- --- --- --- PASS RPS6KA2 6196 broad.mit.edu 37 6 166918040 166918040 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr6:166918040G>T uc003qvb.1 - 6 739 c.520C>A c.(520-522)CAT>AAT p.H174N RPS6KA2_uc011ego.1_Missense_Mutation_p.H85N|RPS6KA2_uc010kkl.1_Missense_Mutation_p.H85N|RPS6KA2_uc003qvc.1_Missense_Mutation_p.H182N|RPS6KA2_uc003qvd.1_Missense_Mutation_p.H199N NM_021135 NP_066958 Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 174 Protein kinase 1. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) CTGTGGAGATGGTCTAAAGCC 0.433 60 16 --- --- --- --- PASS PMS2 5395 broad.mit.edu 37 7 6031654 6031654 + Missense_Mutation SNP T C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr7:6031654T>C uc003spl.2 - 9 1025 c.938A>G c.(937-939)TAT>TGT p.Y313C PMS2_uc003spj.2_Missense_Mutation_p.Y207C|PMS2_uc003spk.2_Missense_Mutation_p.Y178C|PMS2_uc011jwl.1_Missense_Mutation_p.Y178C|PMS2_uc010ktg.2_Missense_Mutation_p.Y2C|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Missense_Mutation_p.Y313C NM_000535 NP_000526 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 isoform 313 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) GTGTCGATTATACATGTGGTA 0.398 Mis|N|F colorectal|endometrial|ovarian|medulloblastoma|glioma Direct_reversal_of_damage|MMR Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 12 29 --- --- --- --- PASS RAC1 5879 broad.mit.edu 37 7 6431584 6431584 + Missense_Mutation SNP T G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr7:6431584T>G uc003spx.2 + 3 378 c.137T>G c.(136-138)GTA>GGA p.V46G RAC1_uc003spw.2_Missense_Mutation_p.V46G NM_006908 NP_008839 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 46 actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding lung(2) 2 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) AATGTTATGGTAGATGGAAAA 0.433 26 68 --- --- --- --- PASS C7orf26 79034 broad.mit.edu 37 7 6639817 6639817 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr7:6639817G>T uc003sqo.1 + 4 938 c.938G>T c.(937-939)CGC>CTC p.R313L C7orf26_uc003sqp.1_Missense_Mutation_p.R216L|C7orf26_uc003sqq.1_Missense_Mutation_p.R114L NM_024067 NP_076972 Q96N11 CG026_HUMAN hypothetical protein LOC79034 313 ovary(1) 1 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986) CTGTATGGGCGCCTGGGGCTG 0.572 10 31 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21939723 21939723 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr7:21939723G>A uc003svc.2 + 82 13340 c.13309G>A c.(13309-13311)GGA>AGA p.G4437R NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4437 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 ATACCTCCACGGACTCTTCAT 0.483 Kartagener_syndrome 19 40 --- --- --- --- PASS GHRHR 2692 broad.mit.edu 37 7 31009500 31009500 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr7:31009500G>T uc003tbx.2 + 4 335 c.287G>T c.(286-288)TGT>TTT p.C96F GHRHR_uc003tbw.1_Missense_Mutation_p.C96F|GHRHR_uc003tby.2_Missense_Mutation_p.C32F|GHRHR_uc003tbz.2_5'UTR NM_000823 NP_000814 Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 96 Extracellular (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding ovary(2)|lung(1)|breast(1)|large_intestine(1) 5 Sermorelin(DB00010) AAACGGGATTGTACTATCACT 0.597 68 99 --- --- --- --- PASS CLIP2 7461 broad.mit.edu 37 7 73811475 73811475 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr7:73811475G>T uc003uam.2 + 14 3119 c.2792G>T c.(2791-2793)AGC>ATC p.S931I CLIP2_uc003uan.2_Missense_Mutation_p.S896I NM_003388 NP_003379 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 931 Potential. microtubule associated complex skin(3) 3 AGGGACCTGAGCCGTGAGGTA 0.622 31 56 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88965368 88965368 + Missense_Mutation SNP C G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr7:88965368C>G uc011khi.1 + 4 3610 c.3072C>G c.(3070-3072)AAC>AAG p.N1024K NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1024 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) ATTGTGATAACCATCTTTCTA 0.333 HNSCC(36;0.09) 18 38 --- --- --- --- PASS CALCR 799 broad.mit.edu 37 7 93067382 93067382 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr7:93067382G>A uc003umv.1 - 12 1283 c.1022C>T c.(1021-1023)GCG>GTG p.A341V CALCR_uc011kia.1_Missense_Mutation_p.A121V|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.A307V|CALCR_uc003umw.2_Missense_Mutation_p.A307V NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 323 Helical; Name=5; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) CACAAGTGCCGCCATGACAGG 0.348 12 19 --- --- --- --- PASS COL1A2 1278 broad.mit.edu 37 7 94049586 94049586 + Silent SNP T A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr7:94049586T>A uc003ung.1 + 35 2592 c.2121T>A c.(2119-2121)CCT>CCA p.P707P COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 707 Missing (in OI2A).|Missing (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) ctgctggtcctCGGGGAAGCC 0.353 HNSCC(75;0.22) 43 65 --- --- --- --- PASS CYP3A4 1576 broad.mit.edu 37 7 99367429 99367429 + Silent SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr7:99367429C>T uc003urv.1 - 6 587 c.483G>A c.(481-483)AGG>AGA p.R161R CYP3A4_uc003urw.1_Silent_p.R161R|CYP3A4_uc011kiz.1_Silent_p.R120R|CYP3A4_uc011kja.1_Silent_p.R112R|CYP3A4_uc011kjb.1_Intron NM_017460 NP_059488 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, 161 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity central_nervous_system(3)|ovary(1) 4 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) CTGCTTCCCGCCTCAGATTTC 0.507 60 122 --- --- --- --- PASS DLD 1738 broad.mit.edu 37 7 107542181 107542181 + Splice_Site SNP A G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr7:107542181A>G uc003vet.2 + 3 229 c.119_splice c.e3-2 p.I40_splice DLD_uc010ljm.1_Splice_Site|DLD_uc011kmg.1_Splice_Site_p.I40_splice|DLD_uc011kmh.1_Splice_Site_p.I40_splice|DLD_uc011kmi.1_Intron NM_000108 NP_000099 P09622 DLDH_HUMAN dihydrolipoamide dehydrogenase precursor branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle mitochondrial matrix dihydrolipoyl dehydrogenase activity central_nervous_system(1) 1 NADH(DB00157) CTTTTATCGTAGTTGATGCTG 0.353 29 64 --- --- --- --- PASS RNF133 168433 broad.mit.edu 37 7 122338572 122338572 + Missense_Mutation SNP C G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr7:122338572C>G uc003vkj.1 - 1 637 c.401G>C c.(400-402)GGT>GCT p.G134A CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron NM_139175 NP_631914 Q8WVZ7 RN133_HUMAN ring finger protein 133 134 PA. endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding skin(1) 1 GTTGCCAGTACCTGGAACGTT 0.428 51 108 --- --- --- --- PASS FLNC 2318 broad.mit.edu 37 7 128496897 128496897 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr7:128496897C>A uc003vnz.3 + 45 7692 c.7483C>A c.(7483-7485)CGC>AGC p.R2495S FLNC_uc003voa.3_Missense_Mutation_p.R2462S NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 2495 Filamin 22.|Interaction with INPPL1. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CTTCAAGATCCGCGTTGGGGA 0.617 22 54 --- --- --- --- PASS TSGA14 95681 broad.mit.edu 37 7 130040572 130040572 + Missense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr7:130040572C>T uc003vpz.2 - 9 780 c.733G>A c.(733-735)GAA>AAA p.E245K TSGA14_uc003vpy.2_Missense_Mutation_p.E7K|TSGA14_uc010lmf.2_Missense_Mutation_p.E42K|TSGA14_uc003vqa.2_Missense_Mutation_p.E245K|TSGA14_uc011kpg.1_Missense_Mutation_p.E229K NM_018718 NP_061188 Q9BYV8 CEP41_HUMAN testis specific, 14 245 Rhodanese. G2/M transition of mitotic cell cycle centrosome|cytosol 0 Melanoma(18;0.0435) AAGAGGTTTTCAAATCCACGC 0.502 12 21 --- --- --- --- PASS PLXNA4 91584 broad.mit.edu 37 7 131870117 131870117 + Silent SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr7:131870117G>C uc003vra.3 - 16 3328 c.3099C>G c.(3097-3099)GTC>GTG p.V1033V NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1033 IPT/TIG 2.|Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 CATACTGAAAGACCAGGTCCT 0.547 45 81 --- --- --- --- PASS AKR1D1 6718 broad.mit.edu 37 7 137773401 137773401 + Silent SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr7:137773401C>A uc003vtz.2 + 2 217 c.148C>A c.(148-150)CGA>AGA p.R50R AKR1D1_uc011kqb.1_Silent_p.R50R|AKR1D1_uc011kqc.1_RNA|AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqe.1_Silent_p.R50R|AKR1D1_uc011kqf.1_Silent_p.R50R NM_005989 NP_005980 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 50 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding skin(1) 1 CACAGGGTACCGACATATTGA 0.488 25 40 --- --- --- --- PASS REPIN1 29803 broad.mit.edu 37 7 150069034 150069034 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr7:150069034C>A uc010lpq.1 + 4 1193 c.704C>A c.(703-705)CCC>CAC p.P235H REPIN1_uc003whd.2_Missense_Mutation_p.P224H|REPIN1_uc010lpr.1_Missense_Mutation_p.P292H|REPIN1_uc003whc.2_Missense_Mutation_p.P235H|REPIN1_uc003whe.2_Missense_Mutation_p.P235H NM_013400 NP_037532 Q9BWE0 REPI1_HUMAN replication initiator 1 isoform 1 235 DNA replication nuclear origin of replication recognition complex DNA binding|zinc ion binding pancreas(1) 1 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) GTCGACCGCCCCTTCCAGTGT 0.527 16 26 --- --- --- --- PASS ARHGEF10 9639 broad.mit.edu 37 8 1828220 1828220 + Missense_Mutation SNP C G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr8:1828220C>G uc003wpr.2 + 9 1028 c.850C>G c.(850-852)CAT>GAT p.H284D ARHGEF10_uc003wpq.1_Missense_Mutation_p.H309D|ARHGEF10_uc003wps.2_Intron|ARHGEF10_uc003wpt.2_Intron|ARHGEF10_uc003wpv.2_Intron|ARHGEF10_uc010lre.2_5'Flank NM_014629 NP_055444 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor 10 309 Potential. centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) GTAGCTTTCTCATGACCTAAC 0.458 30 51 --- --- --- --- PASS MSR1 4481 broad.mit.edu 37 8 16012606 16012606 + Missense_Mutation SNP C G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr8:16012606C>G uc003wwz.2 - 6 1063 c.865G>C c.(865-867)GAA>CAA p.E289Q MSR1_uc010lsu.2_Missense_Mutation_p.E307Q|MSR1_uc003wxa.2_Missense_Mutation_p.E289Q|MSR1_uc003wxb.2_Missense_Mutation_p.E289Q|MSR1_uc011kxz.1_Missense_Mutation_p.E63Q NM_138715 NP_619729 P21757 MSRE_HUMAN macrophage scavenger receptor 1 isoform type 1 289 Collagen-like.|Extracellular (Potential). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity ovary(1) 1 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) GGACCACTTTCTCCAGTGGGA 0.403 43 37 --- --- --- --- PASS EPHX2 2053 broad.mit.edu 37 8 27373843 27373843 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr8:27373843G>T uc003xfu.2 + 8 919 c.838G>T c.(838-840)GCT>TCT p.A280S EPHX2_uc010lut.1_Missense_Mutation_p.A280S|EPHX2_uc010luu.2_Missense_Mutation_p.A248S|EPHX2_uc010luv.2_Missense_Mutation_p.A214S|EPHX2_uc003xfv.2_Missense_Mutation_p.A227S|EPHX2_uc010luw.2_Missense_Mutation_p.A214S|EPHX2_uc011lam.1_Missense_Mutation_p.A136S NM_001979 NP_001970 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 280 Epoxide hydrolase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity ovary(1) 1 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) CTAGATCCCTGCTCTGGCCCA 0.542 OREG0018668 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 178 --- --- --- --- PASS PRKDC 5591 broad.mit.edu 37 8 48719804 48719804 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr8:48719804G>T uc003xqi.2 - 70 9698 c.9641C>A c.(9640-9642)CCC>CAC p.P3214H PRKDC_uc003xqj.2_Missense_Mutation_p.P3214H|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 3214 FAT. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CCTGTCACTGGGGTCTCCATC 0.428 NHEJ 52 108 --- --- --- --- PASS CA13 377677 broad.mit.edu 37 8 86193528 86193528 + Missense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr8:86193528C>T uc003ydg.2 + 7 1081 c.739C>T c.(739-741)CGC>TGC p.R247C CA13_uc003ydf.1_Intron NM_198584 NP_940986 Q8N1Q1 CAH13_HUMAN carbonic anhydrase XIII 247 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding 0 GAGCAATCACCGCCCACCACA 0.498 123 202 --- --- --- --- PASS MATN2 4147 broad.mit.edu 37 8 98973728 98973728 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr8:98973728G>A uc003yic.2 + 5 1159 c.928G>A c.(928-930)GCC>ACC p.A310T MATN2_uc003yib.1_Missense_Mutation_p.A310T|MATN2_uc010mbh.1_Missense_Mutation_p.A310T|MATN2_uc003yid.2_Missense_Mutation_p.A310T|MATN2_uc003yie.1_Missense_Mutation_p.A310T|MATN2_uc010mbi.1_Intron NM_002380 NP_002371 O00339 MATN2_HUMAN matrilin 2 isoform a precursor 310 EGF-like 2. proteinaceous extracellular matrix calcium ion binding ovary(2) 2 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) CAGTGGCTACGCCCTGGCTGA 0.582 37 50 --- --- --- --- PASS NIPAL2 79815 broad.mit.edu 37 8 99248401 99248401 + Nonsense_Mutation SNP T A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr8:99248401T>A uc003yil.1 - 4 674 c.418A>T c.(418-420)AGA>TGA p.R140* NIPAL2_uc011lgw.1_5'UTR|NIPAL2_uc003yim.1_Nonsense_Mutation_p.R140* NM_024759 NP_079035 Q9H841 NPAL2_HUMAN NIPA-like domain containing 2 140 integral to membrane 0 TCTGAGGCTCTCAAATTGTCT 0.313 21 36 --- --- --- --- PASS FBXO43 286151 broad.mit.edu 37 8 101146192 101146192 + Missense_Mutation SNP C G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr8:101146192C>G uc003yjd.2 - 5 2678 c.1965G>C c.(1963-1965)AGG>AGC p.R655S FBXO43_uc003yje.2_Missense_Mutation_p.R621S NM_001029860 NP_001025031 Q4G163 FBX43_HUMAN F-box protein 43 isoform b 655 IBR-type. meiosis zinc ion binding kidney(1)|skin(1) 2 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) TACACAGTCCCCTTTTCTTAT 0.453 43 65 --- --- --- --- PASS SPAG1 6674 broad.mit.edu 37 8 101245659 101245659 + Missense_Mutation SNP T G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr8:101245659T>G uc003yjh.1 + 16 2095 c.2009T>G c.(2008-2010)CTG>CGG p.L670R SPAG1_uc003yji.1_Missense_Mutation_p.L670R NM_172218 NP_757367 Q07617 SPAG1_HUMAN sperm associated antigen 1 670 TPR 8. single fertilization cytoplasm GTP binding|hydrolase activity ovary(2)|central_nervous_system(1) 3 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) TACTTGAAGCTGTGCCAGTTT 0.423 46 53 --- --- --- --- PASS RNF19A 25897 broad.mit.edu 37 8 101281076 101281076 + Silent SNP A C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr8:101281076A>C uc003yjj.1 - 6 1445 c.1128T>G c.(1126-1128)GCT>GCG p.A376A RNF19A_uc003yjk.1_Silent_p.A376A NM_015435 NP_056250 Q9NV58 RN19A_HUMAN ring finger protein 19 376 Helical; (Potential). microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) CAGCTATTAAAGCGATTCCGA 0.438 48 91 --- --- --- --- PASS KLF10 7071 broad.mit.edu 37 8 103662514 103662514 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr8:103662514G>A uc011lhk.1 - 4 1443 c.1289C>T c.(1288-1290)GCG>GTG p.A430V KLF10_uc011lhj.1_Missense_Mutation_p.A419V NM_005655 NP_005646 Q13118 KLF10_HUMAN Kruppel-like factor 10 isoform a 430 C2H2-type 3. cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169) OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826) CATGGGGCACGCAAATTTCTT 0.532 36 77 --- --- --- --- PASS RSPO2 340419 broad.mit.edu 37 8 109001416 109001416 + Missense_Mutation SNP C G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr8:109001416C>G uc003yms.2 - 3 809 c.151G>C c.(151-153)GGG>CGG p.G51R RSPO2_uc003ymq.2_5'UTR|RSPO2_uc003ymr.2_Intron NM_178565 NP_848660 Q6UXX9 RSPO2_HUMAN R-spondin family, member 2 precursor 51 Wnt receptor signaling pathway extracellular region heparin binding skin(3)|ovary(2)|pancreas(1)|lung(1) 7 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) CGGCTACACCCATTGTCCTTT 0.413 37 49 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113326189 113326189 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr8:113326189G>T uc003ynu.2 - 49 7801 c.7642C>A c.(7642-7644)CAG>AAG p.Q2548K CSMD3_uc003yns.2_Missense_Mutation_p.Q1750K|CSMD3_uc003ynt.2_Missense_Mutation_p.Q2508K|CSMD3_uc011lhx.1_Missense_Mutation_p.Q2444K|CSMD3_uc003ynw.1_Missense_Mutation_p.Q259K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2548 CUB 14.|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 GCTGACCACTGAAGAAATACT 0.368 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 35 66 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 114326923 114326923 + Nonsense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr8:114326923C>T uc003ynu.2 - 2 437 c.278G>A c.(277-279)TGG>TAG p.W93* CSMD3_uc003ynt.2_Nonsense_Mutation_p.W53*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.W93*|CSMD3_uc010mcx.1_Nonsense_Mutation_p.W93*|CSMD3_uc003ynx.3_Nonsense_Mutation_p.W93* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 93 Extracellular (Potential).|CUB 1. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TATTATTACCCATGTGCAGTT 0.343 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 87 122 --- --- --- --- PASS FAM49B 51571 broad.mit.edu 37 8 130861552 130861552 + Silent SNP A G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr8:130861552A>G uc003yss.2 - 13 1326 c.777T>C c.(775-777)GGT>GGC p.G259G FAM49B_uc003yst.2_Silent_p.G259G|FAM49B_uc003ysu.2_Silent_p.G259G|FAM49B_uc003ysv.2_Silent_p.G113G|FAM49B_uc003ysw.2_Silent_p.G259G|FAM49B_uc003ysx.2_Silent_p.G259G|FAM49B_uc003ysy.1_Silent_p.G259G NM_016623 NP_057707 Q9NUQ9 FA49B_HUMAN hypothetical protein LOC51571 259 0 Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155) LUAD - Lung adenocarcinoma(14;0.0989) GTATTATGACACCCACCATTA 0.358 23 57 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139180146 139180146 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr8:139180146G>A uc003yuy.2 - 12 1421 c.1250C>T c.(1249-1251)CCT>CTT p.P417L FAM135B_uc003yux.2_Missense_Mutation_p.P318L|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 417 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) ACCTGTCGCAGGGCAGTCCAC 0.507 HNSCC(54;0.14) 60 88 --- --- --- --- PASS EPPK1 83481 broad.mit.edu 37 8 144943648 144943648 + Silent SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr8:144943648G>C uc003zaa.1 - 1 3787 c.3774C>G c.(3772-3774)GCC>GCG p.A1258A NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 1258 Plectin 21. 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) TGCTGGCCTTGGCCCCAGAGG 0.711 13 24 --- --- --- --- PASS JAK2 3717 broad.mit.edu 37 9 5070053 5070053 + Splice_Site SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr9:5070053G>T uc010mhm.2 + 11 1754 c.1641_splice c.e11+1 p.F547_splice JAK2_uc003ziw.2_Splice_Site_p.F547_splice NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding p.F547_N548ins12(2)|p.F547_N548ins11(1)|p.F547_N548insLIRNEDLIF(1) PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4) haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1) 28641 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) TTTGATATTTGTAAGTCATTA 0.308 1 T|Mis|O ETV6|PCM1|BCR ALL|AML|MPD| CML Polycythemia_Vera_Familial 3 29 --- --- --- --- PASS TTC39B 158219 broad.mit.edu 37 9 15192599 15192599 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr9:15192599C>A uc003zlr.1 - 9 842 c.721G>T c.(721-723)GCC>TCC p.A241S TTC39B_uc003zlq.1_Missense_Mutation_p.A210S|TTC39B_uc011lmp.1_Missense_Mutation_p.A142S|TTC39B_uc010mie.1_Missense_Mutation_p.A239S|TTC39B_uc011lmq.1_Missense_Mutation_p.A241S|TTC39B_uc011lmr.1_Missense_Mutation_p.A172S|TTC39B_uc010mif.1_Missense_Mutation_p.A241S|TTC39B_uc003zls.1_Missense_Mutation_p.A142S|TTC39B_uc010mig.1_Missense_Mutation_p.A210S|TTC39B_uc011lms.1_RNA NM_152574 NP_689787 Q5VTQ0 TT39B_HUMAN tetratricopeptide repeat domain 39B 241 binding ovary(1) 1 AAATTAAAGGCCCCACTGCCA 0.418 72 23 --- --- --- --- PASS BICD2 23299 broad.mit.edu 37 9 95481276 95481276 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr9:95481276G>A uc004aso.1 - 5 1708 c.1651C>T c.(1651-1653)CGT>TGT p.R551C BICD2_uc004asp.1_Missense_Mutation_p.R551C NM_015250 NP_056065 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 isoform 2 551 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding skin(1) 1 AGCATGACACGGTTGGGTGTC 0.677 48 22 --- --- --- --- PASS NUP214 8021 broad.mit.edu 37 9 134025771 134025771 + Missense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr9:134025771C>T uc004cag.2 + 15 2212 c.2101C>T c.(2101-2103)CCT>TCT p.P701S NUP214_uc004cah.2_Missense_Mutation_p.P691S|NUP214_uc004cai.2_Missense_Mutation_p.P131S|NUP214_uc004caf.1_Missense_Mutation_p.P690S|NUP214_uc010mzf.2_5'UTR NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 701 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) AGATTCAGATCCTGTAATGGC 0.453 T DEK|SET|ABL1 AML|T-ALL 43 20 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 17107605 17107605 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr10:17107605G>T uc001ioo.2 - 22 3093 c.3041C>A c.(3040-3042)ACA>AAA p.T1014K NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1014 CUB 5. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACCACTGCTTGTGAGAGATGG 0.408 53 88 --- --- --- --- PASS NEBL 10529 broad.mit.edu 37 10 21120411 21120411 + Missense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr10:21120411C>T uc001iqi.2 - 15 1948 c.1551G>A c.(1549-1551)ATG>ATA p.M517I NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 517 Nebulin 14. regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 CCTGGCTGGCCATCTCGGATG 0.428 42 69 --- --- --- --- PASS GPR158 57512 broad.mit.edu 37 10 25887113 25887113 + Nonsense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr10:25887113C>A uc001isj.2 + 11 2618 c.2558C>A c.(2557-2559)TCG>TAG p.S853* GPR158_uc001isk.2_Nonsense_Mutation_p.S228* NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 853 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 GAATCCCTGTCGGGTAAAAAA 0.502 42 86 --- --- --- --- PASS CSGALNACT2 55454 broad.mit.edu 37 10 43654346 43654346 + Missense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr10:43654346C>T uc001jan.2 + 3 1180 c.845C>T c.(844-846)ACT>ATT p.T282I CSGALNACT2_uc001jam.1_Missense_Mutation_p.T282I NM_018590 NP_061060 Q8N6G5 CGAT2_HUMAN chondroitin sulfate 282 Lumenal (Potential). chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding ovary(1) 1 GCTGAAAGAACTGAAGCATTT 0.373 12 41 --- --- --- --- PASS ZNF488 118738 broad.mit.edu 37 10 48371120 48371120 + Silent SNP C T T rs149528341 TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr10:48371120C>T uc001jex.2 + 2 750 c.588C>T c.(586-588)CTC>CTT p.L196L ZNF488_uc001jey.2_Silent_p.L89L NM_153034 NP_694579 Q96MN9 ZN488_HUMAN zinc finger protein 488 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CTGGACTCCTCAACACTACAG 0.532 50 21 --- --- --- --- PASS KIAA1274 27143 broad.mit.edu 37 10 72289798 72289798 + Nonsense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr10:72289798C>T uc001jrd.3 + 4 723 c.442C>T c.(442-444)CAG>TAG p.Q148* NM_014431 NP_055246 Q9ULE6 PALD_HUMAN KIAA1274 148 ovary(2)|central_nervous_system(1) 3 GCGGGTCCTCCAGAAACTCCA 0.632 12 8 --- --- --- --- PASS CDH23 64072 broad.mit.edu 37 10 73326642 73326642 + Silent SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr10:73326642G>T uc001jrx.3 + 7 950 c.573G>T c.(571-573)CGG>CGT p.R191R CDH23_uc001jrw.3_Silent_p.R191R|CDH23_uc001jrv.2_Silent_p.R186R|CDH23_uc009xql.2_Silent_p.R236R NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 191 Cadherin 2.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 CAGTGATCCGGGAGCTGGACT 0.657 22 11 --- --- --- --- PASS GRID1 2894 broad.mit.edu 37 10 87487767 87487767 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr10:87487767G>A uc001kdl.1 - 10 1479 c.1378C>T c.(1378-1380)CCC>TCC p.P460S GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.P31S NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 460 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) TAGCGCTTGGGCTGTCCTAGG 0.473 Multiple Myeloma(13;0.14) 105 59 --- --- --- --- PASS KIF11 3832 broad.mit.edu 37 10 94409662 94409662 + Silent SNP C G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr10:94409662C>G uc001kic.2 + 20 3149 c.2841C>G c.(2839-2841)CTC>CTG p.L947L KIF11_uc010qnq.1_RNA NM_004523 NP_004514 P52732 KIF11_HUMAN kinesin family member 11 947 blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding skin(1) 1 GTGAACATCTCCTTGATCAGC 0.373 25 24 --- --- --- --- PASS KIF11 3832 broad.mit.edu 37 10 94410206 94410206 + Missense_Mutation SNP C G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr10:94410206C>G uc001kic.2 + 21 3279 c.2971C>G c.(2971-2973)CTA>GTA p.L991V KIF11_uc010qnq.1_RNA NM_004523 NP_004514 P52732 KIF11_HUMAN kinesin family member 11 991 blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding skin(1) 1 TGAAGAACCTCTAAGTCAAGA 0.438 45 28 --- --- --- --- PASS ABCC2 1244 broad.mit.edu 37 10 101590552 101590552 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr10:101590552G>A uc001kqf.2 + 21 2966 c.2827G>A c.(2827-2829)GAA>AAA p.E943K NM_000392 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), 943 Cytoplasmic (By similarity). apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GAAGGAAGACGAAGAACTAGT 0.418 42 23 --- --- --- --- PASS ELOVL3 83401 broad.mit.edu 37 10 103988822 103988822 + Missense_Mutation SNP A G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr10:103988822A>G uc001kut.2 + 4 789 c.626A>G c.(625-627)CAG>CGG p.Q209R NM_152310 NP_689523 Q9HB03 ELOV3_HUMAN elongation of very long chain fatty acids like 209 Helical; (Potential). fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding ovary(2) 2 Colorectal(252;0.207) Epithelial(162;4.47e-08)|all cancers(201;7.96e-07) CAGATCTTGCAGATGTTTGTA 0.527 3 38 --- --- --- --- PASS DPYSL4 10570 broad.mit.edu 37 10 134012417 134012417 + Silent SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr10:134012417C>T uc009ybb.2 + 8 907 c.753C>T c.(751-753)TAC>TAT p.Y251Y NM_006426 NP_006417 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 251 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides central_nervous_system(2) 2 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) GCCCGCTGTACGTCACCAAGG 0.667 34 23 --- --- --- --- PASS MRGPRE 116534 broad.mit.edu 37 11 3249621 3249621 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:3249621G>A uc001lxq.3 - 2 716 c.406C>T c.(406-408)CGC>TGC p.R136C NM_001039165 NP_001034254 Q86SM8 MRGRE_HUMAN MAS-related GPR, member E 136 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(1)|ovary(1) 2 Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19) GTCAGGTGGCGTGGGCGGCGG 0.692 6 7 --- --- --- --- PASS OR52E2 119678 broad.mit.edu 37 11 5080587 5080587 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:5080587G>T uc010qyw.1 - 1 271 c.271C>A c.(271-273)CTC>ATC p.L91I NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, 91 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) ATCCCTCTGAGGTTGATCCAG 0.488 15 15 --- --- --- --- PASS OR52E2 119678 broad.mit.edu 37 11 5080588 5080588 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:5080588G>T uc010qyw.1 - 1 270 c.270C>A c.(268-270)AAC>AAA p.N90K NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, 90 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) TCCCTCTGAGGTTGATCCAGA 0.483 15 15 --- --- --- --- PASS OR52E2 119678 broad.mit.edu 37 11 5080785 5080785 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:5080785G>T uc010qyw.1 - 1 73 c.73C>A c.(73-75)CTT>ATT p.L25I NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, 25 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) CAGATGTGAAGTGTTTCTAGT 0.488 24 43 --- --- --- --- PASS OR56A4 120793 broad.mit.edu 37 11 6023926 6023926 + Silent SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:6023926G>T uc010qzv.1 - 1 453 c.453C>A c.(451-453)GCC>GCA p.A151A NM_001005179 NP_001005179 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, 99 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGAGGAAGCAGGCTGGGAAGC 0.542 28 48 --- --- --- --- PASS OR56A1 120796 broad.mit.edu 37 11 6048912 6048912 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:6048912G>T uc010qzw.1 - 1 23 c.23C>A c.(22-24)CCC>CAC p.P8H NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, 8 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P8T(1) ovary(2)|breast(1) 3 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTGTTGCTGGGTGACGCCAT 0.488 70 119 --- --- --- --- PASS OR56A1 120796 broad.mit.edu 37 11 6048913 6048913 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:6048913G>T uc010qzw.1 - 1 22 c.22C>A c.(22-24)CCC>ACC p.P8T NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, 8 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P8T(1) ovary(2)|breast(1) 3 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGTTGCTGGGTGACGCCATA 0.488 70 118 --- --- --- --- PASS SYT9 143425 broad.mit.edu 37 11 7324593 7324593 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:7324593C>A uc001mfe.2 + 2 706 c.469C>A c.(469-471)CAA>AAA p.Q157K SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX 157 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|large_intestine(1) 3 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) CGTGCAGCGCCAAGTCACAGA 0.587 8 21 --- --- --- --- PASS WEE1 7465 broad.mit.edu 37 11 9603115 9603115 + Missense_Mutation SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:9603115G>C uc001mhs.2 + 6 1431 c.1178G>C c.(1177-1179)AGA>ACA p.R393T WEE1_uc001mht.2_Missense_Mutation_p.R179T NM_003390 NP_003381 P30291 WEE1_HUMAN WEE1 tyrosine kinase isoform 1 393 Protein kinase. blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle nucleoplasm ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 5 all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484) GAAAACTACAGAATCATGAGT 0.338 28 48 --- --- --- --- PASS INSC 387755 broad.mit.edu 37 11 15247298 15247298 + Missense_Mutation SNP A G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:15247298A>G uc001mly.2 + 9 1281 c.1235A>G c.(1234-1236)CAG>CGG p.Q412R INSC_uc001mlz.2_Missense_Mutation_p.Q365R|INSC_uc001mma.2_Missense_Mutation_p.Q365R|INSC_uc010rcs.1_Missense_Mutation_p.Q400R|INSC_uc001mmb.2_Missense_Mutation_p.Q365R|INSC_uc001mmc.2_Missense_Mutation_p.Q323R NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 412 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 ATGCTCCTGCAGTTGAATGCC 0.572 20 20 --- --- --- --- PASS KCNA4 3739 broad.mit.edu 37 11 30033036 30033036 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:30033036G>T uc001msk.2 - 2 2342 c.1190C>A c.(1189-1191)GCA>GAA p.A397E NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 397 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GAAGAAGAGTGCTTGGCTGGG 0.463 27 31 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 11 30925146 30925146 + RNA SNP A T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:30925146A>T uc001mss.1 - 10 c.1496T>A uc009yjk.1_Missense_Mutation_p.L913M|uc009yjj.1_RNA Homo sapiens mRNA for KIAA1493 protein, partial cds. AAATCACGCAAGGTAAAGATT 0.433 12 18 --- --- --- --- PASS CCDC73 493860 broad.mit.edu 37 11 32697138 32697138 + Silent SNP T C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:32697138T>C uc001mtv.2 - 9 662 c.618A>G c.(616-618)CAA>CAG p.Q206Q CCDC73_uc001mtw.1_Silent_p.Q206Q NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 206 Potential. ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) TTTCAGCTTCTTGTTTTTTAT 0.274 8 14 --- --- --- --- PASS C11orf41 25758 broad.mit.edu 37 11 33566385 33566385 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:33566385C>A uc001mup.3 + 2 2097 c.1973C>A c.(1972-1974)CCA>CAA p.P658Q C11orf41_uc001mun.1_Missense_Mutation_p.P658Q NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 652 integral to membrane ovary(2) 2 AAATCAAGTCCACCTGCACTG 0.512 15 17 --- --- --- --- PASS LRRC4C 57689 broad.mit.edu 37 11 40137244 40137244 + Missense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:40137244C>T uc001mxa.1 - 2 2563 c.599G>A c.(598-600)AGG>AAG p.R200K LRRC4C_uc001mxc.1_Missense_Mutation_p.R196K|LRRC4C_uc001mxd.1_Missense_Mutation_p.R196K|LRRC4C_uc001mxb.1_Missense_Mutation_p.R196K NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 200 LRR 6. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) GTTCAAATACCTCAAGTTGGA 0.438 25 65 --- --- --- --- PASS ACCS 84680 broad.mit.edu 37 11 44099414 44099414 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:44099414G>T uc009yks.1 + 8 818 c.674G>T c.(673-675)CGC>CTC p.R225L EXT2_uc010rfo.1_Intron|ACCS_uc010rfm.1_3'UTR|ACCS_uc001mxx.2_Missense_Mutation_p.R225L NM_001127219 NP_001120691 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase 225 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups breast(2)|ovary(1)|lung(1) 4 CTAGACACACGCCCCTTCCAG 0.552 18 36 --- --- --- --- PASS OR4C3 256144 broad.mit.edu 37 11 48346889 48346889 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:48346889G>A uc010rhv.1 + 1 397 c.397G>A c.(397-399)GGA>AGA p.G133R NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, 106 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TCATTTTTTGGGAGGTGTTGA 0.473 25 340 --- --- --- --- PASS OR5W2 390148 broad.mit.edu 37 11 55681934 55681934 + Missense_Mutation SNP T A A rs139033114 byFrequency TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:55681934T>A uc010rir.1 - 1 125 c.125A>T c.(124-126)AAT>ATT p.N42I NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 42 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CATTCCAAGATTTGCTGAGAA 0.343 20 41 --- --- --- --- PASS OR8K5 219453 broad.mit.edu 37 11 55927561 55927561 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:55927561C>A uc010rja.1 - 1 233 c.233G>T c.(232-234)TGT>TTT p.C78F NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, 78 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) CACCTTGGGACAAATGACAGT 0.378 33 55 --- --- --- --- PASS DTX4 23220 broad.mit.edu 37 11 58972338 58972338 + Missense_Mutation SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:58972338G>C uc001nns.2 + 9 2073 c.1816G>C c.(1816-1818)GCC>CCC p.A606P DTX4_uc001nnr.2_Missense_Mutation_p.A500P NM_015177 NP_055992 Q9Y2E6 DTX4_HUMAN deltex 4 homolog 606 Notch signaling pathway cytoplasm zinc ion binding lung(2)|central_nervous_system(1) 3 all_epithelial(135;0.125) TGAACTGGCTGCCCAGGGCAT 0.557 4 11 --- --- --- --- PASS TCN1 6947 broad.mit.edu 37 11 59626613 59626613 + Silent SNP A T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:59626613A>T uc001noj.2 - 5 782 c.684T>A c.(682-684)ATT>ATA p.I228I NM_001062 NP_001053 P20061 TCO1_HUMAN transcobalamin I precursor 228 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding ovary(2) 2 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TCTCAGACAGAATCTTTTCTA 0.408 47 91 --- --- --- --- PASS SLC22A6 9356 broad.mit.edu 37 11 62751953 62751953 + Missense_Mutation SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:62751953G>C uc001nwk.2 - 1 517 c.210C>G c.(208-210)GAC>GAG p.D70E SLC22A6_uc001nwl.2_Missense_Mutation_p.D70E|SLC22A6_uc001nwj.2_Missense_Mutation_p.D70E|SLC22A6_uc001nwm.2_Missense_Mutation_p.D70E NM_004790 NP_004781 Q4U2R8 S22A6_HUMAN solute carrier family 22 member 6 isoform a 70 Extracellular (Potential). alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding 0 GCCCCTGCCTGTCCCGGGGCA 0.662 34 61 --- --- --- --- PASS DNAJC4 3338 broad.mit.edu 37 11 63999935 63999935 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:63999935C>A uc001nys.2 + 4 676 c.214C>A c.(214-216)CTG>ATG p.L72M uc001nyr.1_5'Flank|DNAJC4_uc001nyt.2_Missense_Mutation_p.L72M|DNAJC4_uc001nyu.2_Missense_Mutation_p.L72M|VEGFB_uc001nyw.2_5'Flank|VEGFB_uc001nyx.2_5'Flank NM_005528 NP_005519 Q9NNZ3 DNJC4_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 4 72 J. protein folding|response to unfolded protein integral to membrane|membrane fraction heat shock protein binding|unfolded protein binding 0 GAACCCAAGCCTGCACAGCCG 0.647 12 34 --- --- --- --- PASS DPF2 5977 broad.mit.edu 37 11 65113462 65113462 + Missense_Mutation SNP C G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:65113462C>G uc001odm.2 + 8 849 c.837C>G c.(835-837)GAC>GAG p.D279E DPF2_uc001odn.2_Missense_Mutation_p.D293E|DPF2_uc010roe.1_Intron NM_006268 NP_006259 Q92785 REQU_HUMAN D4, zinc and double PHD fingers family 2 279 PHD-type 1. apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus nucleic acid binding|zinc ion binding ovary(1) 1 GCCTGGGGGACTCAAAGATTA 0.542 67 116 --- --- --- --- PASS TIGD3 220359 broad.mit.edu 37 11 65124453 65124453 + Missense_Mutation SNP T C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:65124453T>C uc001odo.3 + 2 1337 c.1174T>C c.(1174-1176)TTT>CTT p.F392L NM_145719 NP_663771 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 392 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 CCTGGAGGAGTTTTCCCGCTT 0.597 52 87 --- --- --- --- PASS PACS1 55690 broad.mit.edu 37 11 65838208 65838208 + Missense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:65838208C>T uc001oha.1 + 1 385 c.251C>T c.(250-252)TCC>TTC p.S84F PACS1_uc001ogz.1_Missense_Mutation_p.S84F NM_018026 NP_060496 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 84 Ser-rich. interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding ovary(6) 6 GCCTCGGGCTCCGCGCCTCCC 0.746 3 9 --- --- --- --- PASS NADSYN1 55191 broad.mit.edu 37 11 71166186 71166186 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:71166186G>T uc001oqn.2 + 2 242 c.116G>T c.(115-117)AGA>ATA p.R39I NADSYN1_uc001oqm.2_RNA|NADSYN1_uc001oqo.2_5'UTR NM_018161 NP_060631 Q6IA69 NADE_HUMAN NAD synthetase 1 39 CN hydrolase. NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding ovary(2) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AGAGGAGCAAGATACAGGCTT 0.443 33 62 --- --- --- --- PASS PRSS23 11098 broad.mit.edu 37 11 86519529 86519529 + Missense_Mutation SNP T C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:86519529T>C uc001pcb.2 + 2 1060 c.844T>C c.(844-846)TAT>CAT p.Y282H PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.Y250H NM_007173 NP_009104 O95084 PRS23_HUMAN protease, serine, 23 precursor 282 proteolysis extracellular region|nucleus serine-type endopeptidase activity central_nervous_system(1)|pancreas(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CTTCTCTGGTTATGACAATGA 0.517 44 98 --- --- --- --- PASS CASP5 838 broad.mit.edu 37 11 104869685 104869685 + Silent SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:104869685C>T uc010rva.1 - 7 1055 c.1023G>A c.(1021-1023)GAG>GAA p.E341E CASP5_uc010ruz.1_Silent_p.E354E|CASP5_uc010rvb.1_Silent_p.E283E|CASP5_uc010rvc.1_Silent_p.E199E|CASP5_uc009yxh.2_Silent_p.E123E|CASP5_uc010rvd.1_Silent_p.E123E NM_004347 NP_004338 P51878 CASP5_HUMAN caspase 5 isoform a precursor 341 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) CCTCCAGGTTCTCAGATGACT 0.418 5 119 --- --- --- --- PASS KBTBD3 143879 broad.mit.edu 37 11 105924321 105924321 + Silent SNP T C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:105924321T>C uc001pja.2 - 4 1735 c.1095A>G c.(1093-1095)TCA>TCG p.S365S KBTBD3_uc001pjb.2_Silent_p.S365S|KBTBD3_uc009yxm.2_Silent_p.S286S NM_198439 NP_940841 Q8NAB2 KBTB3_HUMAN BTB and kelch domain containing 3 361 Kelch 2. ovary(1)|central_nervous_system(1) 2 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) CATCATGATATGACTCGGCAA 0.423 39 37 --- --- --- --- PASS C11orf87 399947 broad.mit.edu 37 11 109294504 109294504 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:109294504C>A uc001pkn.2 + 2 519 c.145C>A c.(145-147)CAG>AAG p.Q49K C11orf87_uc010rwb.1_5'Flank NM_207645 NP_997528 Q6NUJ2 CK087_HUMAN hypothetical protein LOC399947 precursor 49 Extracellular (Potential). integral to membrane ovary(2) 2 CTGCATCACGCAGGTGGGACA 0.632 14 35 --- --- --- --- PASS LAYN 143903 broad.mit.edu 37 11 111430955 111430955 + Silent SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:111430955G>A uc001plr.1 + 8 1257 c.921G>A c.(919-921)CGG>CGA p.R307R LAYN_uc001plp.1_Silent_p.R299R|LAYN_uc001plq.1_3'UTR|LAYN_uc001pls.1_3'UTR|LAYN_uc010rwg.1_Silent_p.R154R|LAYN_uc010rwh.1_Silent_p.R155R NM_178834 NP_849156 Q6UX15 LAYN_HUMAN layilin 307 Cytoplasmic (Potential). cell surface|integral to membrane|ruffle hyaluronic acid binding|sugar binding 0 all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086) Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476) CTGAGACCCGGCCAGACCTGA 0.498 4 104 --- --- --- --- PASS TECTA 7007 broad.mit.edu 37 11 121058628 121058628 + Silent SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:121058628C>T uc010rzo.1 + 20 6087 c.6087C>T c.(6085-6087)TTC>TTT p.F2029F NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 2029 ZP. 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) TCTTTAAATTCATAGGGGATT 0.438 41 75 --- --- --- --- PASS SC5DL 6309 broad.mit.edu 37 11 121175181 121175181 + Missense_Mutation SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:121175181G>C uc001pxu.2 + 3 470 c.322G>C c.(322-324)GAC>CAC p.D108H SC5DL_uc001pxs.1_3'UTR|SC5DL_uc001pxt.2_Missense_Mutation_p.D108H|SC5DL_uc001pxv.2_Missense_Mutation_p.D108H NM_006918 NP_008849 O75845 SC5D_HUMAN sterol-C5-desaturase 108 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity ovary(1) 1 Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) OV - Ovarian serous cystadenocarcinoma(1;0.0334) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144) ATTACATGATGACCTAGGAGA 0.393 33 51 --- --- --- --- PASS OR10G7 390265 broad.mit.edu 37 11 123909601 123909601 + Silent SNP A G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:123909601A>G uc001pzq.1 - 1 108 c.108T>C c.(106-108)ACT>ACC p.T36T NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, 36 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TCCCCAGCACAGTGAGCACGT 0.577 24 94 --- --- --- --- PASS ADAMTS15 170689 broad.mit.edu 37 11 130343465 130343465 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:130343465G>T uc010scd.1 + 8 2602 c.2602G>T c.(2602-2604)GGC>TGC p.G868C NM_139055 NP_620686 Q8TE58 ATS15_HUMAN a disintegrin-like and metalloprotease 868 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(2)|pancreas(1)|lung(1)|skin(1) 5 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;0.0631)|Lung(977;0.215) GGACTGCCGGGGCTCCGCCGG 0.756 26 20 --- --- --- --- PASS NCAPD3 23310 broad.mit.edu 37 11 134038875 134038875 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:134038875C>A uc001qhd.1 - 25 3782 c.3176G>T c.(3175-3177)TGT>TTT p.C1059F NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Missense_Mutation_p.C9F NM_015261 NP_056076 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 1059 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 5 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) GTGAAAAATACATTCAATGAA 0.443 3 64 --- --- --- --- PASS NCAPD3 23310 broad.mit.edu 37 11 134093809 134093809 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:134093809C>A uc001qhd.1 - 1 618 c.12G>T c.(10-12)TTG>TTT p.L4F NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|VPS26B_uc001qhe.2_5'Flank NM_015261 NP_056076 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 4 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 5 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) CAAGGCCCCGCAACGCCACCA 0.687 4 39 --- --- --- --- PASS KIAA0528 9847 broad.mit.edu 37 12 22623838 22623838 + Missense_Mutation SNP A T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr12:22623838A>T uc001rfq.2 - 21 2594 c.2366T>A c.(2365-2367)GTC>GAC p.V789D KIAA0528_uc010sir.1_Missense_Mutation_p.V604D|KIAA0528_uc010sis.1_Missense_Mutation_p.V789D|KIAA0528_uc010sit.1_Missense_Mutation_p.V791D|KIAA0528_uc010siu.1_Missense_Mutation_p.V789D|KIAA0528_uc001rfr.2_Missense_Mutation_p.V780D NM_014802 NP_055617 Q86YS7 K0528_HUMAN hypothetical protein LOC9847 789 protein binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 GACTGCCGTGACTGTAACCTA 0.343 28 45 --- --- --- --- PASS OVCH1 341350 broad.mit.edu 37 12 29631832 29631832 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr12:29631832C>A uc001rix.1 - 9 1005 c.1005G>T c.(1003-1005)ATG>ATT p.M335I NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 335 CUB 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) CTTGCTTTTCCATGTCTAAAC 0.313 11 26 --- --- --- --- PASS KIF21A 55605 broad.mit.edu 37 12 39760235 39760235 + Missense_Mutation SNP C G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr12:39760235C>G uc001rly.2 - 6 966 c.820G>C c.(820-822)GAT>CAT p.D274H KIF21A_uc001rlx.2_Missense_Mutation_p.D274H|KIF21A_uc001rlz.2_Missense_Mutation_p.D274H|KIF21A_uc010skl.1_Missense_Mutation_p.D274H|KIF21A_uc001rma.1_Missense_Mutation_p.D282H NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 274 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) CCTGCGAGATCAACAAAATGG 0.383 42 44 --- --- --- --- PASS LRRK2 120892 broad.mit.edu 37 12 40734125 40734125 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr12:40734125G>T uc001rmg.3 + 41 6099 c.5978G>T c.(5977-5979)CGA>CTA p.R1993L LRRK2_uc009zjw.2_Missense_Mutation_p.R831L|LRRK2_uc001rmi.2_Missense_Mutation_p.R826L NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1993 Protein kinase. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) ATTATATACCGAGACCTGAAA 0.398 50 127 --- --- --- --- PASS ADAMTS20 80070 broad.mit.edu 37 12 43826243 43826243 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr12:43826243C>A uc010skx.1 - 21 2960 c.2960G>T c.(2959-2961)AGG>ATG p.R987M ADAMTS20_uc001rno.1_Missense_Mutation_p.R141M|ADAMTS20_uc001rnp.1_Missense_Mutation_p.R141M NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 987 TSP type-1 4. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TTCTCGAGACCTTTCCCCTCC 0.363 36 69 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49434903 49434903 + Missense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr12:49434903C>T uc001rta.3 - 31 6650 c.6650G>A c.(6649-6651)CGT>CAT p.R2217H NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2217 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 AGCCCCAGGACGAGATGAGGC 0.701 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 24 23 --- --- --- --- PASS DIP2B 57609 broad.mit.edu 37 12 51121588 51121588 + Missense_Mutation SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr12:51121588G>C uc001rwv.2 + 29 3659 c.3503G>C c.(3502-3504)GGA>GCA p.G1168A DIP2B_uc009zlt.2_Missense_Mutation_p.G598A NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 1168 nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 ATGCTTACAGGAGTGAAGGTA 0.458 75 114 --- --- --- --- PASS ESPL1 9700 broad.mit.edu 37 12 53663320 53663320 + Silent SNP G T T rs147703740 TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr12:53663320G>T uc001sck.2 + 3 685 c.594G>T c.(592-594)GCG>GCT p.A198A ESPL1_uc001scj.2_5'UTR NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 198 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 CCTGTCGAGCGGTAGCTGCCC 0.522 153 274 --- --- --- --- PASS AMHR2 269 broad.mit.edu 37 12 53819263 53819263 + Missense_Mutation SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr12:53819263G>C uc001scx.1 + 5 605 c.527G>C c.(526-528)AGA>ACA p.R176T AMHR2_uc009zmy.1_Missense_Mutation_p.R176T NM_020547 NP_065434 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II isoform 176 Cytoplasmic (Potential). Mullerian duct regression ATP binding|hormone binding|metal ion binding ovary(1)|skin(1) 2 Adenosine triphosphate(DB00171) AAGAACTACAGAGTGCGAGGT 0.582 Persistant_Mullerian_Duct_Syndrome_(type_I_and_II) 33 74 --- --- --- --- PASS USP15 9958 broad.mit.edu 37 12 62708619 62708619 + Missense_Mutation SNP C G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr12:62708619C>G uc001src.1 + 4 406 c.397C>G c.(397-399)CTC>GTC p.L133V USP15_uc001srb.1_Missense_Mutation_p.L133V|USP15_uc001sra.2_Missense_Mutation_p.L133V NM_006313 NP_006304 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 133 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) AGAAGTATATCTCACAGAATT 0.333 176 292 --- --- --- --- PASS PPP1R12A 4659 broad.mit.edu 37 12 80203635 80203635 + Silent SNP T A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr12:80203635T>A uc001syz.2 - 10 1662 c.1395A>T c.(1393-1395)GCA>GCT p.A465A PPP1R12A_uc010suc.1_Silent_p.A378A|PPP1R12A_uc001sza.2_Silent_p.A465A|PPP1R12A_uc010sud.1_Silent_p.A465A|PPP1R12A_uc001szb.2_Silent_p.A465A|PPP1R12A_uc001szc.2_Silent_p.A465A NM_002480 NP_002471 O14974 MYPT1_HUMAN protein phosphatase 1, regulatory (inhibitor) 465 contractile fiber protein binding|signal transducer activity ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 GTGTAACACCTGCAGTATCTT 0.413 14 36 --- --- --- --- PASS C12orf26 84190 broad.mit.edu 37 12 82824688 82824688 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr12:82824688G>T uc001szq.2 + 6 1317 c.1296G>T c.(1294-1296)AAG>AAT p.K432N NM_032230 NP_115606 Q8N6Q8 CL026_HUMAN hypothetical protein LOC84190 432 0 CTCAGGAAAAGTGGGGATTTC 0.353 68 95 --- --- --- --- PASS PLXNC1 10154 broad.mit.edu 37 12 94543741 94543741 + Nonsense_Mutation SNP A T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr12:94543741A>T uc001tdc.2 + 1 1243 c.994A>T c.(994-996)AGA>TGA p.R332* NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 332 Extracellular (Potential).|Sema. axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 CTGCCTCTTCAGAATGAGTGA 0.701 7 14 --- --- --- --- PASS ANO4 121601 broad.mit.edu 37 12 101413845 101413845 + Missense_Mutation SNP C G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr12:101413845C>G uc010svm.1 + 9 1340 c.768C>G c.(766-768)AAC>AAG p.N256K ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.N221K|ANO4_uc001thx.2_Missense_Mutation_p.N256K NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 256 Extracellular (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 CGTTCTTCAACAATGCCACAA 0.294 HNSCC(74;0.22) 23 55 --- --- --- --- PASS ANO4 121601 broad.mit.edu 37 12 101442178 101442178 + Missense_Mutation SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr12:101442178G>C uc010svm.1 + 14 1883 c.1311G>C c.(1309-1311)TGG>TGC p.W437C ANO4_uc001thw.2_Missense_Mutation_p.W402C|ANO4_uc001thx.2_Missense_Mutation_p.W437C|ANO4_uc001thy.2_Missense_Mutation_p.W4C NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 437 Helical; (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 TGGCAGTCTGGGGTAAGTGTT 0.373 HNSCC(74;0.22) 25 48 --- --- --- --- PASS PAH 5053 broad.mit.edu 37 12 103246696 103246696 + Missense_Mutation SNP C T T rs62508731 TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr12:103246696C>T uc001tjq.1 - 8 1211 c.739G>A c.(739-741)GGC>AGC p.G247S NM_000277 NP_000268 P00439 PH4H_HUMAN phenylalanine hydroxylase 247 G -> V (in PKU; haplotype 4). catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity ovary(4) 4 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) GAAAGCAGGCCAGCCACAGGT 0.532 20 55 --- --- --- --- PASS MED13L 23389 broad.mit.edu 37 12 116429247 116429247 + Missense_Mutation SNP T G G rs147863200 byFrequency TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr12:116429247T>G uc001tvw.2 - 17 3567 c.3512A>C c.(3511-3513)AAA>ACA p.K1171T NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1171 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GTAGCCAAGTTTGCGGTTCAT 0.463 26 62 --- --- --- --- PASS TCTN2 79867 broad.mit.edu 37 12 124172644 124172644 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr12:124172644G>T uc001ufp.2 + 7 939 c.811G>T c.(811-813)GCA>TCA p.A271S TCTN2_uc009zya.2_Missense_Mutation_p.A270S NM_024809 NP_079085 Q96GX1 TECT2_HUMAN tectonic family member 2 isoform 1 271 Extracellular (Potential). cilium assembly|smoothened signaling pathway integral to membrane ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) GGATACTGACGCAAAAGACTT 0.363 52 146 --- --- --- --- PASS GPR133 283383 broad.mit.edu 37 12 131569199 131569199 + Silent SNP C G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr12:131569199C>G uc001uit.3 + 15 2221 c.1662C>G c.(1660-1662)GTC>GTG p.V554V GPR133_uc010tbm.1_Silent_p.V586V|GPR133_uc009zyo.2_Silent_p.V4V|GPR133_uc001uiv.1_Silent_p.V73V NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 554 GPS.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TGCAGGTGGTCCCGCTGGAGG 0.652 13 22 --- --- --- --- PASS GOLGA3 2802 broad.mit.edu 37 12 133354336 133354336 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr12:133354336G>A uc001ukz.1 - 19 4197 c.3638C>T c.(3637-3639)TCC>TTC p.S1213F GOLGA3_uc001ula.1_Missense_Mutation_p.S1213F NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 1213 Potential. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) CAGCTCCAAGGAGGCCGCCTT 0.637 16 24 --- --- --- --- PASS ZMYM2 7750 broad.mit.edu 37 13 20567346 20567346 + Missense_Mutation SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr13:20567346G>C uc001umr.2 + 4 432 c.134G>C c.(133-135)AGA>ACA p.R45T ZMYM2_uc001umq.2_Missense_Mutation_p.R45T|ZMYM2_uc001ums.2_Missense_Mutation_p.R45T|ZMYM2_uc001umt.2_Missense_Mutation_p.R45T|ZMYM2_uc009zzn.1_Missense_Mutation_p.R67T NM_003453 NP_003444 Q9UBW7 ZMYM2_HUMAN zinc finger protein 198 45 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding lung(3)|ovary(2)|prostate(1) 6 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) TTAGTGTCTAGATCTAATAAG 0.428 21 116 --- --- --- --- PASS ZMYM2 7750 broad.mit.edu 37 13 20567525 20567525 + Missense_Mutation SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr13:20567525G>C uc001umr.2 + 4 611 c.313G>C c.(313-315)GAG>CAG p.E105Q ZMYM2_uc001umq.2_Missense_Mutation_p.E105Q|ZMYM2_uc001ums.2_Missense_Mutation_p.E105Q|ZMYM2_uc001umt.2_Missense_Mutation_p.E105Q|ZMYM2_uc009zzn.1_Missense_Mutation_p.E127Q NM_003453 NP_003444 Q9UBW7 ZMYM2_HUMAN zinc finger protein 198 105 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding lung(3)|ovary(2)|prostate(1) 6 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) TTCCTCAAAAGAGTTGGCATC 0.363 16 48 --- --- --- --- PASS ZMYM2 7750 broad.mit.edu 37 13 20567573 20567573 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr13:20567573G>T uc001umr.2 + 4 659 c.361G>T c.(361-363)GAT>TAT p.D121Y ZMYM2_uc001umq.2_Missense_Mutation_p.D121Y|ZMYM2_uc001ums.2_Missense_Mutation_p.D121Y|ZMYM2_uc001umt.2_Missense_Mutation_p.D121Y|ZMYM2_uc009zzn.1_Missense_Mutation_p.D143Y NM_003453 NP_003444 Q9UBW7 ZMYM2_HUMAN zinc finger protein 198 121 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding lung(3)|ovary(2)|prostate(1) 6 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) TGTCATTGATGATGAAGAGGA 0.368 25 64 --- --- --- --- PASS ZMYM2 7750 broad.mit.edu 37 13 20567803 20567803 + Silent SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr13:20567803G>A uc001umr.2 + 4 889 c.591G>A c.(589-591)GTG>GTA p.V197V ZMYM2_uc001umq.2_Intron|ZMYM2_uc001ums.2_Silent_p.V197V|ZMYM2_uc001umt.2_Silent_p.V197V|ZMYM2_uc009zzn.1_Intron NM_003453 NP_003444 Q9UBW7 ZMYM2_HUMAN zinc finger protein 198 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding lung(3)|ovary(2)|prostate(1) 6 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) TAAGCTCTGTGAATGATGGCC 0.393 115 306 --- --- --- --- PASS ZMYM2 7750 broad.mit.edu 37 13 20567851 20567851 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr13:20567851G>A uc001umr.2 + 4 937 c.639G>A c.(637-639)ATG>ATA p.M213I ZMYM2_uc001umq.2_Intron|ZMYM2_uc001ums.2_Missense_Mutation_p.M213I|ZMYM2_uc001umt.2_Missense_Mutation_p.M213I|ZMYM2_uc009zzn.1_Intron NM_003453 NP_003444 Q9UBW7 ZMYM2_HUMAN zinc finger protein 198 213 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding lung(3)|ovary(2)|prostate(1) 6 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) TGAACTTAATGATTACACATG 0.373 88 246 --- --- --- --- PASS ZMYM2 7750 broad.mit.edu 37 13 20568004 20568004 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr13:20568004G>T uc001umr.2 + 4 1090 c.792G>T c.(790-792)ATG>ATT p.M264I ZMYM2_uc001umq.2_Missense_Mutation_p.M177I|ZMYM2_uc001ums.2_Missense_Mutation_p.M264I|ZMYM2_uc001umt.2_Missense_Mutation_p.M264I|ZMYM2_uc009zzn.1_Missense_Mutation_p.M199I NM_003453 NP_003444 Q9UBW7 ZMYM2_HUMAN zinc finger protein 198 264 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding lung(3)|ovary(2)|prostate(1) 6 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) CTGGTAGAATGAATGTGGCAG 0.373 62 217 --- --- --- --- PASS ZMYM2 7750 broad.mit.edu 37 13 20568028 20568028 + Missense_Mutation SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr13:20568028G>C uc001umr.2 + 4 1114 c.816G>C c.(814-816)CAG>CAC p.Q272H ZMYM2_uc001umq.2_Missense_Mutation_p.Q185H|ZMYM2_uc001ums.2_Missense_Mutation_p.Q272H|ZMYM2_uc001umt.2_Missense_Mutation_p.Q272H|ZMYM2_uc009zzn.1_Missense_Mutation_p.Q207H NM_003453 NP_003444 Q9UBW7 ZMYM2_HUMAN zinc finger protein 198 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding lung(3)|ovary(2)|prostate(1) 6 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) ACGTTTTTCAGAATGGAGAAT 0.368 70 240 --- --- --- --- PASS PCDH8 5100 broad.mit.edu 37 13 53421590 53421590 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr13:53421590C>A uc001vhi.2 - 1 1185 c.982G>T c.(982-984)GAC>TAC p.D328Y PCDH8_uc001vhj.2_Missense_Mutation_p.D328Y NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 328 Extracellular (Potential).|Cadherin 3. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) GGTCCGCGGTCCTGCGCCCGC 0.706 20 12 --- --- --- --- PASS PCDH8 5100 broad.mit.edu 37 13 53421591 53421591 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr13:53421591C>A uc001vhi.2 - 1 1184 c.981G>T c.(979-981)CAG>CAT p.Q327H PCDH8_uc001vhj.2_Missense_Mutation_p.Q327H NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 327 Extracellular (Potential).|Cadherin 3. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) GTCCGCGGTCCTGCGCCCGCA 0.706 21 12 --- --- --- --- PASS NALCN 259232 broad.mit.edu 37 13 102029054 102029054 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr13:102029054G>T uc001vox.1 - 6 830 c.641C>A c.(640-642)CCA>CAA p.P214Q NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.P214Q|NALCN_uc001vpa.2_Missense_Mutation_p.P214Q NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 214 Extracellular (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AACTTACCCTGGCTTTGTGTC 0.284 56 126 --- --- --- --- PASS ATP11A 23250 broad.mit.edu 37 13 113527896 113527896 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr13:113527896G>A uc001vsi.3 + 27 3155 c.3067G>A c.(3067-3069)GAC>AAC p.D1023N ATP11A_uc001vsj.3_Missense_Mutation_p.D1023N|ATP11A_uc010ago.2_RNA NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 1023 Helical; (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 large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) GCTTGCATTGGACACACACTA 0.493 OREG0003854 type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 41 63 --- --- --- --- PASS DCUN1D2 55208 broad.mit.edu 37 13 114112392 114112392 + Silent SNP T C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr13:114112392T>C uc001vtr.1 - 7 771 c.732A>G c.(730-732)GTA>GTG p.V244V DCUN1D2_uc001vts.1_RNA|DCUN1D2_uc010agw.1_Silent_p.V111V NM_001014283 NP_001014305 Q6PH85 DCNL2_HUMAN DCN1, defective in cullin neddylation 1, domain 244 DCUN1. 0 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234) GTGCATATTCTACAAAATCAT 0.433 OREG0022535 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 170 266 --- --- --- --- PASS SALL2 6297 broad.mit.edu 37 14 21990847 21990847 + Silent SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr14:21990847C>T uc001wbe.2 - 2 3297 c.3015G>A c.(3013-3015)ACG>ACA p.T1005T SALL2_uc010tly.1_Silent_p.T1003T|SALL2_uc010tlz.1_Intron|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Intron|SALL2_uc001wbg.1_Intron NM_005407 NP_005398 Q9Y467 SALL2_HUMAN sal-like 2 1005 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|large_intestine(1) 3 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) CTCATGGGATCGTGGGGTCAT 0.522 37 30 --- --- --- --- PASS C14orf37 145407 broad.mit.edu 37 14 58598408 58598408 + Silent SNP C T T rs76381572 TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr14:58598408C>T uc001xdc.2 - 4 1764 c.1653G>A c.(1651-1653)GAG>GAA p.E551E C14orf37_uc010tro.1_Silent_p.E589E|C14orf37_uc001xdd.2_Silent_p.E551E|C14orf37_uc001xde.2_Silent_p.E551E NM_001001872 NP_001001872 Q86TY3 CN037_HUMAN hypothetical protein LOC145407 precursor 551 Extracellular (Potential). integral to membrane binding 0 GTGTGAACTCCTCATTTGGCC 0.493 57 70 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106725471 106725471 + RNA SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr14:106725471C>T uc010tyt.1 - 588 c.18076G>A Parts of antibodies, mostly variable regions. 0 CCAAGCCTCCCCCAGACTCCA 0.557 39 123 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28465667 28465667 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr15:28465667G>A uc001zbj.2 - 37 5882 c.5776C>T c.(5776-5778)CTC>TTC p.L1926F NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 1926 MIB/HERC2. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GCCAGCTTGAGGTCGTATTTT 0.567 70 113 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33955780 33955780 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr15:33955780C>A uc001zhi.2 + 36 5531 c.5461C>A c.(5461-5463)CAC>AAC p.H1821N RYR3_uc010bar.2_Missense_Mutation_p.H1821N NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1821 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGAGCTGCAGCACCGAGTGGA 0.473 13 30 --- --- --- --- PASS ATP8B4 79895 broad.mit.edu 37 15 50271902 50271902 + Nonsense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr15:50271902C>A uc001zxu.2 - 12 1088 c.946G>T c.(946-948)GAG>TAG p.E316* ATP8B4_uc010ber.2_Nonsense_Mutation_p.E189*|ATP8B4_uc010ufd.1_Nonsense_Mutation_p.E189*|ATP8B4_uc010ufe.1_RNA NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 316 Extracellular (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) GAGCTCTTCTCTCCTTCATTC 0.378 84 142 --- --- --- --- PASS PIF1 80119 broad.mit.edu 37 15 65108795 65108795 + Missense_Mutation SNP C A A rs78139154 byFrequency TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr15:65108795C>A uc002ant.2 - 12 1910 c.1844G>T c.(1843-1845)CGG>CTG p.R615L PIF1_uc002anr.2_Missense_Mutation_p.R163L|PIF1_uc002ans.2_Missense_Mutation_p.R306L|PIF1_uc010uiq.1_Missense_Mutation_p.R615L NM_025049 NP_079325 Q9H611 PIF1_HUMAN DNA helicase homolog PIF1 615 Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity. negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication nuclear chromosome, telomeric region ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding 0 CCTGCCCCGCCGCAGGGTGGC 0.672 38 73 --- --- --- --- PASS CT62 196993 broad.mit.edu 37 15 71404546 71404546 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr15:71404546G>T uc002ata.2 - 3 589 c.76C>A c.(76-78)CAC>AAC p.H26N NM_001102658 NP_001096128 P0C5K7 CT62_HUMAN cancer/testis antigen 62 26 0 AATGTTCTGTGGGTGTGGCTG 0.473 8 25 --- --- --- --- PASS CYP1A1 1543 broad.mit.edu 37 15 75012843 75012843 + Missense_Mutation SNP T A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr15:75012843T>A uc002ayp.3 - 7 1648 c.1526A>T c.(1525-1527)CAG>CTG p.Q509L CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Missense_Mutation_p.Q245L|CYP1A1_uc010bjx.2_Missense_Mutation_p.Q245L|CYP1A1_uc002ayq.3_Missense_Mutation_p.Q509L|CYP1A1_uc010bjy.2_Missense_Mutation_p.Q480L NM_000499 NP_000490 P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, 509 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity ovary(2)|breast(2)|pancreas(1) 5 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) AGAGCGCAGCTGCATTTGGAA 0.572 Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia 48 75 --- --- --- --- PASS ARNT2 9915 broad.mit.edu 37 15 80872844 80872844 + Missense_Mutation SNP A G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr15:80872844A>G uc002bfr.2 + 16 1872 c.1706A>G c.(1705-1707)CAG>CGG p.Q569R ARNT2_uc010unm.1_Missense_Mutation_p.Q558R|ARNT2_uc002bfs.2_Missense_Mutation_p.Q558R NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN aryl hydrocarbon receptor nuclear translocator 569 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(3)|ovary(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.134) CAGCTAAACCAGAGTCAGGTG 0.557 28 46 --- --- --- --- PASS CPEB1 64506 broad.mit.edu 37 15 83224681 83224681 + Silent SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr15:83224681G>T uc002bit.2 - 5 1115 c.978C>A c.(976-978)CTC>CTA p.L326L CPEB1_uc002biq.2_Silent_p.L191L|CPEB1_uc002bir.2_Silent_p.L191L|CPEB1_uc002bis.2_Silent_p.L191L|CPEB1_uc010uod.1_Silent_p.L40L|CPEB1_uc010uoe.1_Silent_p.L269L|CPEB1_uc002biu.2_Silent_p.L293L|CPEB1_uc010uof.1_Silent_p.L191L|CPEB1_uc002biv.2_Silent_p.L266L|CPEB1_uc002bip.2_Silent_p.L40L NM_001079533 NP_001073001 Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding 266 mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(143;0.229) TGGGAGCTTCGAGGAGGTCCC 0.592 30 47 --- --- --- --- PASS ZNF774 342132 broad.mit.edu 37 15 90897909 90897909 + Nonsense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr15:90897909C>A uc002bpk.3 + 2 203 c.17C>A c.(16-18)TCA>TAA p.S6* NM_001004309 NP_001004309 Q6NX45 ZN774_HUMAN zinc finger protein 774 6 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331) BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) CTGGGGACTTCAGGGAAGAGT 0.483 10 23 --- --- --- --- PASS RUNDC2A 84127 broad.mit.edu 37 16 12142233 12142233 + Silent SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr16:12142233G>A uc002dbw.1 + 7 566 c.504G>A c.(502-504)CTG>CTA p.L168L NM_032167 NP_115543 Q9HA26 RUN2A_HUMAN RUN domain containing 2A 168 RUN. ovary(1) 1 GGGCAGGTCTGAACTCCATAC 0.473 T CIITA PMBL|Hodgkin Lymphona| 69 101 --- --- --- --- PASS ERCC4 2072 broad.mit.edu 37 16 14014057 14014057 + Missense_Mutation SNP T C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr16:14014057T>C uc002dce.2 + 1 44 c.35T>C c.(34-36)ATG>ACG p.M12T ERCC4_uc010bva.2_Missense_Mutation_p.M12T NM_005236 NP_005227 Q92889 XPF_HUMAN excision repair cross-complementing rodent 12 double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity lung(4)|ovary(3)|skin(2)|pancreas(1) 10 CGGATTGCCATGGCGCCGCTG 0.677 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 20 47 --- --- --- --- PASS ACSM5 54988 broad.mit.edu 37 16 20442601 20442601 + Silent SNP T A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr16:20442601T>A uc002dhe.2 + 10 1413 c.1266T>A c.(1264-1266)CGT>CGA p.R422R NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 422 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 TTGCCGTCCGTATCAGACCCA 0.453 67 135 --- --- --- --- PASS ACSM2B 348158 broad.mit.edu 37 16 20554474 20554474 + Silent SNP A G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr16:20554474A>G uc002dhj.3 - 12 1602 c.1392T>C c.(1390-1392)GAT>GAC p.D464D ACSM2B_uc002dhk.3_Silent_p.D464D|ACSM2B_uc010bwf.1_Silent_p.D464D NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 464 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 AGTTAATGATATCATCTGCCC 0.502 150 480 --- --- --- --- PASS ZKSCAN2 342357 broad.mit.edu 37 16 25264286 25264286 + Missense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr16:25264286C>T uc002dod.3 - 3 1066 c.659G>A c.(658-660)CGG>CAG p.R220Q ZKSCAN2_uc010vcl.1_Silent_p.T12T|ZKSCAN2_uc002doe.2_Missense_Mutation_p.R220Q NM_001012981 NP_001012999 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 220 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|breast(1) 4 GBM - Glioblastoma multiforme(48;0.0378) AGCAGGAAGCCGTGTGGTTGT 0.328 10 879 --- --- --- --- PASS HS3ST4 9951 broad.mit.edu 37 16 26147451 26147451 + Missense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr16:26147451C>T uc002dof.2 + 2 1645 c.1253C>T c.(1252-1254)CCT>CTT p.P418L NM_006040 NP_006031 Q9Y661 HS3S4_HUMAN heparan sulfate D-glucosaminyl 418 Lumenal (Potential). heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity large_intestine(1)|breast(1) 2 GBM - Glioblastoma multiforme(48;0.0988) CGGACTCATCCTCGCATTGAC 0.463 11 154 --- --- --- --- PASS SRCAP 10847 broad.mit.edu 37 16 30724634 30724634 + Missense_Mutation SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr16:30724634G>C uc002dze.1 + 15 2621 c.2236G>C c.(2236-2238)GAT>CAT p.D746H SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.D603H|SRCAP_uc010bzz.1_Missense_Mutation_p.D316H NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 746 Helicase ATP-binding. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) TCTCATTCTGGATGAGGCGCA 0.527 40 208 --- --- --- --- PASS NLRC5 84166 broad.mit.edu 37 16 57059850 57059850 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr16:57059850G>A uc002ekk.1 + 6 1220 c.995G>A c.(994-996)TGC>TAC p.C332Y NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.C137Y|NLRC5_uc002ekl.2_Missense_Mutation_p.C137Y|NLRC5_uc002ekm.2_Missense_Mutation_p.C137Y|NLRC5_uc010ccr.1_RNA NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 332 NACHT. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) TCCCATCTCTGCAATGGGACC 0.547 4 65 --- --- --- --- PASS SF3B3 23450 broad.mit.edu 37 16 70604043 70604043 + Silent SNP G A A rs117807189 by1000genomes TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr16:70604043G>A uc002ezf.2 + 24 3610 c.3399G>A c.(3397-3399)ACG>ACA p.T1133T NM_012426 NP_036558 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3 1133 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(1) 1 Ovarian(137;0.0694) TGCCATTCACGTCCCATGAGG 0.502 35 27 --- --- --- --- PASS SCARF1 8578 broad.mit.edu 37 17 1538132 1538132 + Missense_Mutation SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr17:1538132G>C uc002fsz.1 - 11 2463 c.2413C>G c.(2413-2415)CAG>GAG p.Q805E SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.Q719E NM_003693 NP_003684 Q14162 SREC_HUMAN scavenger receptor class F, member 1 isoform 1 805 Cytoplasmic (Potential). cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GCCTGCTTCTGGGGATCCTGT 0.592 5 186 --- --- --- --- PASS PRPF8 10594 broad.mit.edu 37 17 1585180 1585180 + Missense_Mutation SNP T A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr17:1585180T>A uc002fte.2 - 5 701 c.587A>T c.(586-588)GAC>GTC p.D196V NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 196 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) CTCCTCAGGGTCCAGCTCTAG 0.547 5 138 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578382 7578382 + Nonsense_Mutation SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr17:7578382G>C uc002gim.2 - 5 742 c.548C>G c.(547-549)TCA>TGA p.S183* TP53_uc002gig.1_Nonsense_Mutation_p.S183*|TP53_uc002gih.2_Nonsense_Mutation_p.S183*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.S51*|TP53_uc010cng.1_Nonsense_Mutation_p.S51*|TP53_uc002gii.1_Nonsense_Mutation_p.S51*|TP53_uc010cnh.1_Nonsense_Mutation_p.S183*|TP53_uc010cni.1_Nonsense_Mutation_p.S183*|TP53_uc002gij.2_Nonsense_Mutation_p.S183*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.S90*|TP53_uc002gio.2_Nonsense_Mutation_p.S51*|TP53_uc010vug.1_Nonsense_Mutation_p.S144* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 183 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). S -> P (in sporadic cancers; somatic mutation).|S -> L (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.S183*(21)|p.0?(7)|p.R174fs*24(3)|p.S183P(3)|p.?(2)|p.S183L(2)|p.V173fs*59(2)|p.K164_P219del(1)|p.E180_S183del(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.R42fs*24(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) ATCGCTATCTGAGCAGCGCTC 0.647 111 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) 51 22 --- --- --- --- PASS FBXW10 10517 broad.mit.edu 37 17 18668086 18668086 + Nonsense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr17:18668086C>T uc002guk.2 + 8 1697 c.1465C>T c.(1465-1467)CGA>TGA p.R489* FBXW10_uc002guj.2_Nonsense_Mutation_p.R489*|FBXW10_uc002gul.2_Nonsense_Mutation_p.R518*|FBXW10_uc010cqh.1_Nonsense_Mutation_p.R489* NM_031456 NP_113644 Q5XX13 FBW10_HUMAN F-box and WD-40 domain protein 10 489 WD 3. ovary(1) 1 GGTTTGCACACGAATCTTCGG 0.493 6 103 --- --- --- --- PASS SLFN11 91607 broad.mit.edu 37 17 33689942 33689942 + Silent SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr17:33689942G>A uc010ctp.2 - 4 1327 c.885C>T c.(883-885)TTC>TTT p.F295F SLFN11_uc010ctq.2_Silent_p.F295F|SLFN11_uc002hjh.3_Silent_p.F295F|SLFN11_uc002hjg.3_Silent_p.F295F|SLFN11_uc010ctr.2_Silent_p.F295F NM_001104588 NP_001098058 Q7Z7L1 SLN11_HUMAN schlafen family member 11 295 nucleus ATP binding large_intestine(1)|ovary(1)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TTTTGAGTGTGAAGGTTATCG 0.418 118 41 --- --- --- --- PASS KRTAP9-8 83901 broad.mit.edu 37 17 39394625 39394625 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr17:39394625C>A uc002hwh.3 + 1 356 c.322C>A c.(322-324)CCC>ACC p.P108T KRTAP9-9_uc010wfq.1_Intron NM_031963 NP_114169 Q9BYQ0 KRA98_HUMAN keratin associated protein 9.8 108 15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI]. keratin filament ovary(1) 1 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CTGCTACCACCCCACGACTGT 0.627 82 40 --- --- --- --- PASS C17orf57 124989 broad.mit.edu 37 17 45452306 45452306 + Missense_Mutation SNP C T T rs144496511 by1000genomes TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr17:45452306C>T uc002iln.2 + 12 1757 c.1346C>T c.(1345-1347)ACG>ATG p.T449M C17orf57_uc002ilm.2_Missense_Mutation_p.T353M|C17orf57_uc002ill.1_Missense_Mutation_p.T205M|C17orf57_uc010daz.1_Missense_Mutation_p.T401M NM_152347 NP_689560 Q8IY85 CQ057_HUMAN hypothetical protein LOC124989 449 calcium ion binding breast(1)|central_nervous_system(1)|skin(1) 3 GTTTCGTCTACGGAAAAAACT 0.358 13 25 --- --- --- --- PASS CCDC46 201134 broad.mit.edu 37 17 63746836 63746836 + Missense_Mutation SNP T G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr17:63746836T>G uc002jfl.2 - 22 2620 c.2401A>C c.(2401-2403)AGC>CGC p.S801R CCDC46_uc010deo.2_Intron|CCDC46_uc002jfm.2_Missense_Mutation_p.S801R|CCDC46_uc010dep.2_Missense_Mutation_p.S759R|CCDC46_uc002jfk.2_Missense_Mutation_p.S57R NM_145036 NP_659473 Q8N8E3 CE112_HUMAN coiled-coil domain containing 46 isoform a 801 Potential. centrosome 0 BRCA - Breast invasive adenocarcinoma(6;1.53e-06) TTCAGCTTGCTGTTGGCCTGA 0.443 3 88 --- --- --- --- PASS KIF19 124602 broad.mit.edu 37 17 72344020 72344020 + Silent SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr17:72344020C>A uc002jkm.3 + 9 1167 c.1029C>A c.(1027-1029)GCC>GCA p.A343A KIF19_uc002jkj.2_Silent_p.A343A|KIF19_uc002jkk.2_Silent_p.A301A|KIF19_uc002jkl.2_Silent_p.A301A NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN kinesin family member 19 343 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 CCGGCCGGGCCAAGAACATTA 0.627 6 4 --- --- --- --- PASS LLGL2 3993 broad.mit.edu 37 17 73566264 73566264 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr17:73566264G>A uc002joh.2 + 15 1956 c.1802G>A c.(1801-1803)CGG>CAG p.R601Q LLGL2_uc002joi.2_Missense_Mutation_p.R601Q|LLGL2_uc010dgg.1_Missense_Mutation_p.R601Q|LLGL2_uc002joj.2_Missense_Mutation_p.R590Q|LLGL2_uc010wsd.1_Missense_Mutation_p.R228Q NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 isoform c 601 WD 10. cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding ovary(2) 2 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) TCTGAGTGGCGGCTCGTGGCC 0.662 5 6 --- --- --- --- PASS UBE2O 63893 broad.mit.edu 37 17 74387085 74387085 + Missense_Mutation SNP A T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr17:74387085A>T uc002jrm.3 - 18 3883 c.3818T>A c.(3817-3819)CTG>CAG p.L1273Q UBE2O_uc002jrl.3_Missense_Mutation_p.L877Q NM_022066 NP_071349 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 1273 ATP binding|ubiquitin-protein ligase activity breast(2)|skin(2)|lung(1) 5 GAACTGCGTCAGGACACCCCG 0.592 4 188 --- --- --- --- PASS ACTG1 71 broad.mit.edu 37 17 79479272 79479272 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr17:79479272G>A uc002kaj.1 - 1 134 c.109C>T c.(109-111)CGC>TGC p.R37C ACTG1_uc002kah.1_5'Flank|ACTG1_uc002kai.1_5'Flank|ACTG1_uc002kak.1_Missense_Mutation_p.R37C|ACTG1_uc010wun.1_Missense_Mutation_p.R37C|ACTG1_uc002kal.1_Missense_Mutation_p.R37C|ACTG1_uc002kag.2_RNA NM_001614 NP_001605 P63261 ACTG_HUMAN actin, gamma 1 propeptide 37 adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol ATP binding|identical protein binding ovary(1)|central_nervous_system(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) TGTCTGGGGCGCCCGACGATG 0.672 4 104 --- --- --- --- PASS MC5R 4161 broad.mit.edu 37 18 13826449 13826449 + Missense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr18:13826449C>T uc010xaf.1 + 1 685 c.685C>T c.(685-687)CGG>TGG p.R229W NM_005913 NP_005904 P33032 MC5R_HUMAN melanocortin 5 receptor 229 Cytoplasmic (Potential). ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding ovary(3)|lung(2)|breast(1) 6 CAGCTCTGCGCGGCAGAGGAC 0.617 103 151 --- --- --- --- PASS ASXL3 80816 broad.mit.edu 37 18 31325999 31325999 + Missense_Mutation SNP A G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr18:31325999A>G uc010dmg.1 + 12 6242 c.6187A>G c.(6187-6189)ACC>GCC p.T2063A ASXL3_uc002kxq.2_Missense_Mutation_p.T1770A NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 2063 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 TACCATGGAAACCACTAAGAG 0.333 41 46 --- --- --- --- PASS KIAA0427 9811 broad.mit.edu 37 18 46284319 46284319 + Missense_Mutation SNP A T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr18:46284319A>T uc002ldc.2 + 8 899 c.614A>T c.(613-615)AAG>ATG p.K205M KIAA0427_uc002ldd.2_Missense_Mutation_p.K205M|KIAA0427_uc002lde.3_5'Flank NM_014772 NP_055587 O43310 CTIF_HUMAN hypothetical protein LOC9811 isoform 1 205 Interaction with NCBP1/CBP80. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding 0 GGGGGCAACAAGCCCCAACAG 0.642 68 92 --- --- --- --- PASS PHLPP1 23239 broad.mit.edu 37 18 60642823 60642823 + Missense_Mutation SNP A G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr18:60642823A>G uc002lis.2 + 17 2591 c.2413A>G c.(2413-2415)AAG>GAG p.K805E NM_194449 NP_919431 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein 1317 PP2C-like. apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity 0 AGAAGAGCTGAAGAGGATTAA 0.448 62 114 --- --- --- --- PASS ZNF407 55628 broad.mit.edu 37 18 72343774 72343774 + Missense_Mutation SNP A G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr18:72343774A>G uc002llw.2 + 1 856 c.799A>G c.(799-801)ACA>GCA p.T267A ZNF407_uc010xfc.1_Missense_Mutation_p.T267A|ZNF407_uc010dqu.1_Missense_Mutation_p.T267A|ZNF407_uc002llu.2_Missense_Mutation_p.T266A NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 267 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) TCTTGGCAAAACACATCTCCG 0.393 46 84 --- --- --- --- PASS ZNF236 7776 broad.mit.edu 37 18 74625758 74625758 + Missense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr18:74625758C>T uc002lmi.2 + 18 3157 c.2959C>T c.(2959-2961)CGG>TGG p.R987W ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 987 C2H2-type 18. cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GCAGCATGTGCGGTCGCACAC 0.507 27 47 --- --- --- --- PASS SALL3 27164 broad.mit.edu 37 18 76753910 76753910 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr18:76753910C>A uc002lmt.2 + 2 1919 c.1919C>A c.(1918-1920)TCC>TAC p.S640Y SALL3_uc010dra.2_Missense_Mutation_p.S247Y NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 640 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CCCGCCGTCTCCGAGCAGTTC 0.682 8 5 --- --- --- --- PASS NDUFB7 4713 broad.mit.edu 37 19 14676967 14676967 + Missense_Mutation SNP A G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr19:14676967A>G uc002mzg.2 - 3 466 c.392T>C c.(391-393)GTG>GCG p.V131A NM_004146 NP_004137 P17568 NDUB7_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 131 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity ovary(1) 1 NADH(DB00157) CTTGGGGTCCACTTCCCCGGG 0.632 11 21 --- --- --- --- PASS EMR2 30817 broad.mit.edu 37 19 14884813 14884813 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr19:14884813G>T uc002mzp.1 - 4 592 c.136C>A c.(136-138)CGC>AGC p.R46S EMR2_uc010xnw.1_Missense_Mutation_p.R46S|EMR2_uc002mzo.1_Missense_Mutation_p.R46S|EMR2_uc002mzq.1_Missense_Mutation_p.R46S|EMR2_uc002mzr.1_Missense_Mutation_p.R46S|EMR2_uc002mzs.1_Missense_Mutation_p.R46S|EMR2_uc002mzt.1_Missense_Mutation_p.R46S|EMR2_uc002mzu.1_Missense_Mutation_p.R46S|EMR2_uc010xnx.1_5'Flank|EMR2_uc010xny.1_RNA NM_013447 NP_038475 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone 46 Extracellular (Potential).|EGF-like 1. cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity lung(2)|ovary(1)|skin(1) 4 GGATTGCAGCGACAGGCGGTG 0.597 79 120 --- --- --- --- PASS UNC13A 23025 broad.mit.edu 37 19 17759744 17759744 + Missense_Mutation SNP T C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr19:17759744T>C uc002nhd.2 - 15 1837 c.1837A>G c.(1837-1839)AGC>GGC p.S613G NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 525 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 TTCAACGTGCTGGAGGCCAAG 0.607 4 11 --- --- --- --- PASS IL12RB1 3594 broad.mit.edu 37 19 18188455 18188455 + Silent SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr19:18188455C>T uc002nhw.1 - 5 484 c.420G>A c.(418-420)GAG>GAA p.E140E IL12RB1_uc010xqb.1_Silent_p.E140E|IL12RB1_uc002nhx.1_Silent_p.E180E|IL12RB1_uc002nhy.2_Silent_p.E140E NM_005535 NP_005526 P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 isoform 1 140 Extracellular (Potential). cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity pancreas(1) 1 CCAGAGGAGGCTCATATTTAA 0.572 11 31 --- --- --- --- PASS KLHL26 55295 broad.mit.edu 37 19 18779702 18779702 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr19:18779702G>A uc002njz.1 + 3 1522 c.1495G>A c.(1495-1497)GTG>ATG p.V499M NM_018316 NP_060786 Q53HC5 KLH26_HUMAN kelch-like 26 499 Kelch 4. ovary(1) 1 CGAACCCCGCGTGCTACACGC 0.667 20 38 --- --- --- --- PASS ZNF486 90649 broad.mit.edu 37 19 20307846 20307846 + Silent SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr19:20307846G>A uc002nou.2 + 4 384 c.327G>A c.(325-327)CTG>CTA p.L109L NM_052852 NP_443084 Q96H40 ZN486_HUMAN zinc finger protein 486 109 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AAGTGATACTGAGAAAATTTG 0.343 38 67 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22155843 22155843 + Missense_Mutation SNP A T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr19:22155843A>T uc002nqp.2 - 5 1842 c.1693T>A c.(1693-1695)TAC>AAC p.Y565N ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TTACATTTGTAGGGCTTCTCT 0.383 25 60 --- --- --- --- PASS ZNF681 148213 broad.mit.edu 37 19 23938269 23938269 + Missense_Mutation SNP T A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr19:23938269T>A uc002nrk.3 - 2 230 c.88A>T c.(88-90)AGG>TGG p.R30W ZNF681_uc002nrl.3_Intron|ZNF681_uc002nrj.3_Intron|ZNF681_uc002nrm.1_5'Flank NM_138286 NP_612143 Q96N22 ZN681_HUMAN zinc finger protein 681 30 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) ATCACATTCCTATATAAATTC 0.353 70 110 --- --- --- --- PASS ZNF254 9534 broad.mit.edu 37 19 24310244 24310244 + Missense_Mutation SNP A T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr19:24310244A>T uc002nru.2 + 4 1576 c.1442A>T c.(1441-1443)AAG>ATG p.K481M ZNF254_uc010xrk.1_Missense_Mutation_p.K396M NM_203282 NP_975011 O75437 ZN254_HUMAN zinc finger protein 254 481 C2H2-type 10. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) ACTAGACATAAGAGGATGCAC 0.383 28 40 --- --- --- --- PASS RGS9BP 388531 broad.mit.edu 37 19 33167314 33167314 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr19:33167314G>A uc002ntp.1 + 1 1002 c.145G>A c.(145-147)GAG>AAG p.E49K ANKRD27_uc002ntn.1_5'Flank|ANKRD27_uc002nto.1_5'Flank NM_207391 NP_997274 Q6ZS82 R9BP_HUMAN RGS9 anchor protein 49 Potential.|Cytoplasmic (Potential). negative regulation of signal transduction integral to membrane central_nervous_system(1) 1 Esophageal squamous(110;0.137) GAAGGCGCAGGAGCTGGCGGT 0.711 3 12 --- --- --- --- PASS CCDC123 84902 broad.mit.edu 37 19 33417844 33417844 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr19:33417844C>A uc002nty.2 - 10 1165 c.1076G>T c.(1075-1077)TGG>TTG p.W359L CCDC123_uc002ntx.2_Missense_Mutation_p.W112L|CCDC123_uc010edg.2_RNA|CCDC123_uc002ntz.1_Missense_Mutation_p.W359L NM_032816 NP_116205 Q96ST8 CEP89_HUMAN coiled-coil domain containing 123 359 centrosome|spindle pole 0 Esophageal squamous(110;0.137) ACTTACCAACCAGGGTGGTAT 0.318 12 24 --- --- --- --- PASS WDR88 126248 broad.mit.edu 37 19 33628589 33628589 + Missense_Mutation SNP T C C rs147156559 byFrequency TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr19:33628589T>C uc002nui.2 + 2 361 c.283T>C c.(283-285)TTT>CTT p.F95L NM_173479 NP_775750 Q6ZMY6 WDR88_HUMAN PQQ repeat and WD repeat domain containing 95 ovary(1)|breast(1)|central_nervous_system(1) 3 Esophageal squamous(110;0.137) TCAGATCCCATTTAAAATTCT 0.338 24 52 --- --- --- --- PASS SELV 348303 broad.mit.edu 37 19 40006578 40006578 + Silent SNP C G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr19:40006578C>G uc010xvc.1 + 1 826 c.726C>G c.(724-726)TCC>TCG p.S242S NM_182704 NP_874363 P59797 SELV_HUMAN selenoprotein V 242 cell redox homeostasis selenium binding 0 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CGGCCATCTCCTTACAGAATT 0.612 15 3 --- --- --- --- PASS ERCC1 2067 broad.mit.edu 37 19 45924470 45924470 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr19:45924470G>A uc002pbs.1 - 3 433 c.287C>T c.(286-288)GCA>GTA p.A96V ERCC1_uc002pbt.1_Missense_Mutation_p.A96V|ERCC1_uc002pbu.1_Intron|ERCC1_uc002pbv.2_Missense_Mutation_p.A96V NM_001983 NP_001974 P07992 ERCC1_HUMAN excision repair cross-complementing 1 isofrom 2 96 mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding ovary(2) 2 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0247) GTTGGATTTTGCCCCGGGTTT 0.607 NER 69 17 --- --- --- --- PASS SIGLEC9 27180 broad.mit.edu 37 19 51628948 51628948 + Silent SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr19:51628948G>A uc002pvu.2 + 2 583 c.516G>A c.(514-516)CAG>CAA p.Q172Q SIGLEC9_uc010yct.1_Silent_p.Q172Q NM_014441 NP_055256 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 precursor 172 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) CCTGTGAGCAGGGGACACCCC 0.667 4 99 --- --- --- --- PASS ZNF835 90485 broad.mit.edu 37 19 57175283 57175283 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr19:57175283G>T uc010ygo.1 - 2 1350 c.1350C>A c.(1348-1350)AGC>AGA p.S450R ZNF835_uc010ygn.1_Missense_Mutation_p.S428R NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 AGGAGCCCTGGCTGAAAGCTT 0.672 42 11 --- --- --- --- PASS PLCB4 5332 broad.mit.edu 37 20 9404577 9404577 + Silent SNP A G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr20:9404577A>G uc002wnf.2 + 26 2602 c.2466A>G c.(2464-2466)ACA>ACG p.T822T PLCB4_uc010gbw.1_Silent_p.T822T|PLCB4_uc010gbx.2_Silent_p.T834T|PLCB4_uc002wne.2_Silent_p.T822T|PLCB4_uc002wnh.2_Silent_p.T669T NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 822 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity skin(11)|ovary(3)|pancreas(1) 15 TTCTTAAAACATATGTGCCTG 0.363 16 36 --- --- --- --- PASS ZNF133 7692 broad.mit.edu 37 20 18296189 18296189 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr20:18296189C>A uc010gcq.2 + 5 999 c.694C>A c.(694-696)CAC>AAC p.H232N ZNF133_uc010zrv.1_Missense_Mutation_p.H235N|ZNF133_uc010zrw.1_Missense_Mutation_p.H169N|ZNF133_uc010gcr.2_Missense_Mutation_p.H232N|ZNF133_uc010zrx.1_Missense_Mutation_p.H137N|ZNF133_uc002wql.3_Missense_Mutation_p.H231N|ZNF133_uc010gcs.2_Missense_Mutation_p.H231N|ZNF133_uc010zry.1_Missense_Mutation_p.H137N|ZNF133_uc002wqm.2_Missense_Mutation_p.H232N NM_003434 NP_003425 P52736 ZN133_HUMAN zinc finger protein 133 232 C2H2-type 1. nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1) 2 CCTGCTCAGTCACCAGCGGAT 0.502 44 49 --- --- --- --- PASS C20orf12 55184 broad.mit.edu 37 20 18395156 18395156 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr20:18395156G>T uc010zsa.1 - 12 1344 c.1135C>A c.(1135-1137)CTC>ATC p.L379I C20orf12_uc010zrz.1_5'Flank|C20orf12_uc002wqp.3_Missense_Mutation_p.L70I|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.L246I|C20orf12_uc002wqq.3_Missense_Mutation_p.L360I|C20orf12_uc002wqu.1_RNA|C20orf12_uc010gct.1_RNA NM_001099407 NP_001092877 Q9NVP4 CT012_HUMAN hypothetical protein LOC55184 187 intracellular zinc ion binding ovary(1) 1 Myeloproliferative disorder(85;0.0122) GGAATGCCGAGCTAGAGGATA 0.368 10 7 --- --- --- --- PASS ELMO2 63916 broad.mit.edu 37 20 45000526 45000526 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr20:45000526C>A uc002xrt.1 - 17 1709 c.1499G>T c.(1498-1500)CGT>CTT p.R500L ELMO2_uc010zxq.1_Missense_Mutation_p.R232L|ELMO2_uc002xrs.1_Missense_Mutation_p.R247L|ELMO2_uc002xru.1_Missense_Mutation_p.R500L|ELMO2_uc010zxr.1_Missense_Mutation_p.R512L|ELMO2_uc010zxs.1_Missense_Mutation_p.R317L|ELMO2_uc002xrv.1_Missense_Mutation_p.R219L NM_133171 NP_573403 Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 500 apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding ovary(1) 1 Myeloproliferative disorder(115;0.0122) ACTCAGGCTACGCAATTTGCT 0.502 3 99 --- --- --- --- PASS FAM65C 140876 broad.mit.edu 37 20 49224934 49224934 + Silent SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr20:49224934C>T uc002xvm.2 - 11 1254 c.936G>A c.(934-936)GTG>GTA p.V312V FAM65C_uc010zyt.1_Silent_p.V316V|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Silent_p.V312V NM_080829 NP_543019 Q96MK2 FA65C_HUMAN hypothetical protein LOC140876 312 ovary(2) 2 ACTTCCACTGCACCTCCAGCT 0.652 17 42 --- --- --- --- PASS GNAS 2778 broad.mit.edu 37 20 57480498 57480498 + Missense_Mutation SNP C T T rs137854532 TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr20:57480498C>T uc002xzw.2 + 6 2707 c.2422C>T c.(2422-2424)CGC>TGC p.R808C GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.R106C|GNAS_uc002xzx.2_Missense_Mutation_p.R106C|GNAS_uc010gjr.2_Missense_Mutation_p.R56C|GNAS_uc002xzy.2_Missense_Mutation_p.R91C|GNAS_uc002yaa.2_Missense_Mutation_p.R151C|GNAS_uc010zzt.1_Missense_Mutation_p.R166C|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.R56C|GNAS_uc002yae.2_Missense_Mutation_p.R90C NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas 165 R -> C (in AHO). 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) CTGCTACGAACGCTCCAACGA 0.468 Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 8 105 --- --- --- --- PASS SON 6651 broad.mit.edu 37 21 34923873 34923873 + Missense_Mutation SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr21:34923873G>C uc002yse.1 + 3 2385 c.2336G>C c.(2335-2337)AGC>ACC p.S779T SON_uc002ysb.1_Missense_Mutation_p.S779T|SON_uc002ysc.2_Missense_Mutation_p.S779T|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 779 17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM. anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 TTAGCAACTAGCTCCATGGAC 0.507 15 194 --- --- --- --- PASS TRAPPC10 7109 broad.mit.edu 37 21 45513965 45513965 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr21:45513965G>T uc002zea.2 + 20 3188 c.3019G>T c.(3019-3021)GTG>TTG p.V1007L TRAPPC10_uc010gpo.2_Missense_Mutation_p.V718L|TRAPPC10_uc011afa.1_Missense_Mutation_p.V385L|TRAPPC10_uc011afb.1_Missense_Mutation_p.V112L NM_003274 NP_003265 P48553 TPC10_HUMAN trafficking protein particle complex 10 1007 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity ovary(1)|skin(1) 2 CAAGCAGTCGGTGTTCTTCGT 0.542 14 94 --- --- --- --- PASS PRAME 23532 broad.mit.edu 37 22 22890661 22890661 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr22:22890661C>A uc002zwf.2 - 5 1514 c.1358G>T c.(1357-1359)GGT>GTT p.G453V LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.G437V|PRAME_uc010gtr.2_Missense_Mutation_p.G453V|PRAME_uc002zwg.2_Missense_Mutation_p.G453V|PRAME_uc002zwh.2_Missense_Mutation_p.G453V|PRAME_uc002zwi.2_Missense_Mutation_p.G453V|PRAME_uc002zwj.2_Missense_Mutation_p.G453V|PRAME_uc002zwk.2_Missense_Mutation_p.G453V NM_206956 NP_996839 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 453 Mediates interaction with RARA. apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding central_nervous_system(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) GTGGAGGGTACCATGGATGTC 0.587 30 52 --- --- --- --- PASS SEZ6L 23544 broad.mit.edu 37 22 26688413 26688413 + Missense_Mutation SNP C A A rs140163670 TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr22:26688413C>A uc003acb.2 + 2 292 c.136C>A c.(136-138)CTC>ATC p.L46I SEZ6L_uc003acc.2_Missense_Mutation_p.L46I|SEZ6L_uc011akc.1_Missense_Mutation_p.L46I|SEZ6L_uc003acd.2_Missense_Mutation_p.L46I|SEZ6L_uc011akd.1_Missense_Mutation_p.L46I|SEZ6L_uc003ace.2_Missense_Mutation_p.L46I|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 46 Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 GGGTCCTTACCTCCTGCCCTC 0.572 18 18 --- --- --- --- PASS MN1 4330 broad.mit.edu 37 22 28192792 28192792 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr22:28192792G>A uc003adj.2 - 1 4695 c.3740C>T c.(3739-3741)CCC>CTC p.P1247L NM_002430 NP_002421 Q10571 MN1_HUMAN meningioma 1 1247 binding central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 10 CTTCTCCCAGGGCGCCAACGT 0.617 T ETV6 AML|meningioma 69 97 --- --- --- --- PASS APOL6 80830 broad.mit.edu 37 22 36054912 36054912 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr22:36054912G>A uc003aoe.2 + 3 595 c.301G>A c.(301-303)GCA>ACA p.A101T APOL6_uc003aod.2_RNA NM_030641 NP_085144 Q9BWW8 APOL6_HUMAN apolipoprotein L6 101 lipoprotein metabolic process cytoplasm|extracellular region lipid binding|lipid transporter activity 0 CCTTGCCCCAGCAACAGGAGG 0.557 18 32 --- --- --- --- PASS CYB5R3 1727 broad.mit.edu 37 22 43023325 43023325 + Silent SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr22:43023325C>A uc003bcz.2 - 7 702 c.618G>T c.(616-618)CTG>CTT p.L206L CYB5R3_uc010gzc.1_Silent_p.L80L|CYB5R3_uc003bcw.2_Silent_p.L196L|CYB5R3_uc011aps.1_Silent_p.L239L|CYB5R3_uc003bcy.2_Silent_p.L183L|CYB5R3_uc003bcx.2_Silent_p.L183L NM_000398 NP_000389 P00387 NB5R3_HUMAN cytochrome b5 reductase 3 isoform m 206 FAD (By similarity). blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane cytochrome-b5 reductase activity skin(1) 1 NADH(DB00157) TGGCAAAGAGCAGGTGGCACA 0.612 11 29 --- --- --- --- PASS GRAMD4 23151 broad.mit.edu 37 22 47069654 47069654 + Nonsense_Mutation SNP A T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr22:47069654A>T uc003bhx.2 + 14 1366 c.1327A>T c.(1327-1329)AAG>TAG p.K443* GRAMD4_uc010had.2_Nonsense_Mutation_p.K382*|GRAMD4_uc003bhy.2_5'Flank NM_015124 NP_055939 Q6IC98 GRAM4_HUMAN death-inducing-protein 443 apoptosis integral to membrane|mitochondrial membrane ovary(1) 1 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) CCACAGCACCAAGAAGGGCAA 0.622 66 110 --- --- --- --- PASS SFRS17A 8227 broad.mit.edu 37 X 1720006 1720006 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chrX:1720006G>T uc004cqa.2 + 5 1803 c.1607G>T c.(1606-1608)GGC>GTC p.G536V SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_Intron NM_005088 NP_005079 Q02040 AK17A_HUMAN DNA segment on chromosome X and Y (unique) 155 536 B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding 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) CCCGAGGATGGCTCTCCAGAG 0.642 16 18 --- --- --- --- PASS FOXR2 139628 broad.mit.edu 37 X 55650591 55650591 + Silent SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chrX:55650591C>A uc004duo.2 + 1 759 c.447C>A c.(445-447)CCC>CCA p.P149P NM_198451 NP_940853 Q6PJQ5 FOXR2_HUMAN forkhead box R2 149 embryo development|organ 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 lung(2)|central_nervous_system(1) 3 TCCATTCCCCCAGTGACTTTG 0.502 26 21 --- --- --- --- PASS FAM123B 139285 broad.mit.edu 37 X 63412728 63412728 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chrX:63412728C>A uc004dvo.2 - 2 712 c.439G>T c.(439-441)GTG>TTG p.V147L NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 147 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40)|p.V147fs*11(1) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 GCTCCAGCCACAGATGTCTTA 0.532 29 53 --- --- --- --- PASS HEPH 9843 broad.mit.edu 37 X 65409596 65409596 + Missense_Mutation SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chrX:65409596C>A uc011moz.1 + 6 948 c.888C>A c.(886-888)CAC>CAA p.H296Q HEPH_uc004dwn.2_Missense_Mutation_p.H296Q|HEPH_uc004dwo.2_Missense_Mutation_p.H26Q|HEPH_uc010nkr.2_Missense_Mutation_p.H296Q|HEPH_uc011mpa.1_Missense_Mutation_p.H296Q NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 293 Extracellular (Potential).|Plastocyanin-like 2. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 TGGCCTGGCACTTGTTTGGCA 0.443 42 61 --- --- --- --- PASS OPHN1 4983 broad.mit.edu 37 X 67283739 67283739 + Silent SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chrX:67283739G>A uc004dww.3 - 21 2409 c.2115C>T c.(2113-2115)CAC>CAT p.H705H OPHN1_uc011mpg.1_Intron NM_002547 NP_002538 O60890 OPHN1_HUMAN oligophrenin 1 705 Pro-rich. axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(2) 2 GTCTCTTTATGTGGAAAGAGG 0.587 6 11 --- --- --- --- PASS ZMYM3 9203 broad.mit.edu 37 X 70468981 70468981 + Silent SNP G C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chrX:70468981G>C uc004dzh.1 - 8 1596 c.1509C>G c.(1507-1509)ACC>ACG p.T503T BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Silent_p.T503T|ZMYM3_uc004dzj.1_Silent_p.T503T NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 503 MYM-type 4. multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) TCTTACACAGGGTCTTGCACC 0.453 59 136 --- --- --- --- PASS TGIF2LX 90316 broad.mit.edu 37 X 89177498 89177498 + Silent SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chrX:89177498C>A uc004efe.2 + 2 463 c.414C>A c.(412-414)ACC>ACA p.T138T NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 138 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 TGCAGAGCACCGAGGCGTCTG 0.587 22 48 --- --- --- --- PASS DRP2 1821 broad.mit.edu 37 X 100510221 100510221 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chrX:100510221G>T uc004egz.2 + 20 2598 c.2229G>T c.(2227-2229)TTG>TTT p.L743F DRP2_uc011mrh.1_Missense_Mutation_p.L665F NM_001939 NP_001930 Q13474 DRP2_HUMAN dystrophin related protein 2 743 central nervous system development cytoplasm|cytoskeleton zinc ion binding ovary(2) 2 ATGACAGCTTGTCCCCAGATG 0.463 85 124 --- --- --- --- PASS BTK 695 broad.mit.edu 37 X 100613622 100613622 + Silent SNP C G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chrX:100613622C>G uc004ehg.2 - 11 1150 c.957G>C c.(955-957)GTG>GTC p.V319V BTK_uc004ehf.2_5'Flank|BTK_uc010nnh.2_5'Flank|BTK_uc010nni.2_5'Flank|BTK_uc004ehe.2_5'Flank|BTK_uc010nnj.2_5'Flank|BTK_uc010nnk.2_5'Flank|BTK_uc010nnl.2_5'Flank|BTK_uc010nnm.2_5'Flank|BTK_uc010nnn.2_Silent_p.V319V|BTK_uc010nno.2_Silent_p.V353V|BTK_uc004ehh.1_5'Flank|BTK_uc004ehi.2_Silent_p.V319V NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 319 SH2. V -> A (in XLA; moderate). calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 ATTTAGCAAACACAGACACTG 0.483 Agammaglobulinemia_X-linked 18 381 --- --- --- --- PASS BEX1 55859 broad.mit.edu 37 X 102317851 102317851 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chrX:102317851G>T uc004ejt.1 - 3 592 c.352C>A c.(352-354)CAT>AAT p.H118N NM_018476 NP_060946 Q9HBH7 BEX1_HUMAN brain expressed, X-linked 1 118 cell differentiation|nervous system development cytoplasm|nucleus ovary(1) 1 AACTCATCATGATGGTCATGG 0.488 78 107 --- --- --- --- PASS NRK 203447 broad.mit.edu 37 X 105179165 105179165 + Missense_Mutation SNP A G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chrX:105179165A>G uc004emd.2 + 21 3806 c.3503A>G c.(3502-3504)TAC>TGC p.Y1168C NRK_uc010npc.1_Missense_Mutation_p.Y836C NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 1168 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 TTTGCAGTATACGCTGGATTC 0.383 HNSCC(51;0.14) 57 103 --- --- --- --- PASS AGTR2 186 broad.mit.edu 37 X 115304242 115304242 + Missense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chrX:115304242C>T uc004eqh.3 + 3 916 c.709C>T c.(709-711)CAC>TAC p.H237Y NM_000686 NP_000677 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 237 Cytoplasmic (Potential). behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity ovary(2)|lung(1) 3 AATTAGAAAACACTTACTGAA 0.403 35 59 --- --- --- --- PASS WDR44 54521 broad.mit.edu 37 X 117527019 117527019 + Missense_Mutation SNP C G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chrX:117527019C>G uc004eqn.2 + 4 1036 c.611C>G c.(610-612)GCC>GGC p.A204G WDR44_uc004eqo.2_Missense_Mutation_p.A204G|WDR44_uc011mtr.1_Missense_Mutation_p.A179G|WDR44_uc010nqi.2_5'UTR NM_019045 NP_061918 Q5JSH3 WDR44_HUMAN WD repeat domain 44 protein 204 cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 AAAGATTTTGCCGCTGTGGAA 0.488 36 107 --- --- --- --- PASS DOCK11 139818 broad.mit.edu 37 X 117731508 117731508 + Missense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chrX:117731508C>T uc004eqp.2 + 21 2441 c.2378C>T c.(2377-2379)TCA>TTA p.S793L DOCK11_uc004eqq.2_Missense_Mutation_p.S559L NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 793 DHR-1. blood coagulation cytosol GTP binding ovary(3) 3 GATGCAGAATCAAGAAGGGTA 0.368 47 72 --- --- --- --- PASS XIAP 331 broad.mit.edu 37 X 123034478 123034478 + Missense_Mutation SNP C T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chrX:123034478C>T uc010nqu.2 + 6 1361 c.1235C>T c.(1234-1236)GCA>GTA p.A412V XIAP_uc004etx.2_Missense_Mutation_p.A412V|XIAP_uc010nqv.2_Missense_Mutation_p.A38V NM_001167 NP_001158 P98170 XIAP_HUMAN baculoviral IAP repeat-containing protein 4 412 anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus cytosol caspase inhibitor activity|ligase activity|protein binding|zinc ion binding ovary(1)|lung(1) 2 GTTCTGGTTGCAGATCTAGTG 0.343 X-linked_Lymphoproliferative_syndrome 25 62 --- --- --- --- PASS STAG2 10735 broad.mit.edu 37 X 123197734 123197734 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chrX:123197734G>T uc004etz.3 + 19 2197 c.1858G>T c.(1858-1860)GTA>TTA p.V620L STAG2_uc004eua.2_Missense_Mutation_p.V620L|STAG2_uc004eub.2_Missense_Mutation_p.V620L|STAG2_uc004euc.2_Missense_Mutation_p.V620L|STAG2_uc004eud.2_Missense_Mutation_p.V620L|STAG2_uc004eue.2_Missense_Mutation_p.V620L NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 620 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 CCGGAATATTGTAGAGAAGCA 0.338 48 70 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123516596 123516596 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chrX:123516596G>T uc004euj.2 - 30 7407 c.7343C>A c.(7342-7344)CCT>CAT p.P2448H ODZ1_uc011muj.1_Missense_Mutation_p.P2454H|ODZ1_uc010nqy.2_Missense_Mutation_p.P2455H NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2448 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TTCTAATTCAGGTTTGGGAAA 0.353 117 213 --- --- --- --- PASS ACTRT1 139741 broad.mit.edu 37 X 127185764 127185764 + Missense_Mutation SNP G A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chrX:127185764G>A uc004eum.2 - 1 619 c.422C>T c.(421-423)GCG>GTG p.A141V NM_138289 NP_612146 Q8TDG2 ACTT1_HUMAN actin-related protein T1 141 cytoplasm|cytoskeleton ovary(2)|central_nervous_system(2)|skin(1) 5 CGCTGCCACCGCATGATTAGA 0.522 4 215 --- --- --- --- PASS MAP7D3 79649 broad.mit.edu 37 X 135326828 135326828 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chrX:135326828G>T uc004ezt.2 - 4 471 c.380C>A c.(379-381)GCA>GAA p.A127E MAP7D3_uc004ezs.2_Missense_Mutation_p.A126E|MAP7D3_uc011mwc.1_Missense_Mutation_p.A109E|MAP7D3_uc010nsa.1_Missense_Mutation_p.A126E NM_024597 NP_078873 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 127 Potential. cytoplasm|spindle ovary(2)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;0.000127) TTTTTCTTCTGCAGCTATTCT 0.398 40 119 --- --- --- --- PASS ZIC3 7547 broad.mit.edu 37 X 136649893 136649893 + Missense_Mutation SNP A G G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chrX:136649893A>G uc004fak.2 + 1 1548 c.1043A>G c.(1042-1044)CAC>CGC p.H348R NM_003413 NP_003404 O60481 ZIC3_HUMAN zinc finger protein of the cerebellum 3 348 C2H2-type 3.|Nuclear localization signal. cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) CTCAAGATCCACAAGAGGACC 0.612 44 88 --- --- --- --- PASS RENBP 5973 broad.mit.edu 37 X 153209819 153209819 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chrX:153209819G>T uc004fjo.1 - 2 249 c.79C>A c.(79-81)CAG>AAG p.Q27K RENBP_uc011mzh.1_Missense_Mutation_p.Q27K|RENBP_uc011mzi.1_5'Flank NM_002910 NP_002901 P51606 RENBP_HUMAN renin binding protein 27 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity ovary(1)|pancreas(1) 2 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) TCCAGCTCCTGCCCCACGCGC 0.637 40 104 --- --- --- --- PASS MECP2 4204 broad.mit.edu 37 X 153296299 153296299 + Missense_Mutation SNP G T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chrX:153296299G>T uc004fjv.2 - 4 1206 c.980C>A c.(979-981)ACC>AAC p.T327N MECP2_uc004fjw.2_Missense_Mutation_p.T339N NM_004992 NP_004983 P51608 MECP2_HUMAN methyl CpG binding protein 2 isoform 1 327 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity 0 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTCACCGAGGGTGGACACCAG 0.617 43 75 --- --- --- --- PASS MECP2 4204 broad.mit.edu 37 X 153297676 153297676 + Missense_Mutation SNP T C C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chrX:153297676T>C uc004fjv.2 - 3 585 c.359A>G c.(358-360)TAT>TGT p.Y120C MECP2_uc004fjw.2_Missense_Mutation_p.Y132C NM_004992 NP_004983 P51608 MECP2_HUMAN methyl CpG binding protein 2 isoform 1 120 MBD. Y -> D (in RTT). negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity 0 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ATACACATCATACTTCCCAGC 0.522 36 83 --- --- --- --- PASS SLC10A3 8273 broad.mit.edu 37 X 153716116 153716116 + Silent SNP C A A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chrX:153716116C>A uc004flq.2 - 3 1428 c.1164G>T c.(1162-1164)GTG>GTT p.V388V UBL4A_uc004flo.2_5'Flank|SLC10A3_uc004flr.2_Silent_p.V359V|SLC10A3_uc004flp.2_Silent_p.V388V NM_001142392 NP_001135864 P09131 P3_HUMAN solute carrier family 10, member 3 isoform 1 388 Helical; (Potential). organic anion transport integral to membrane bile acid:sodium symporter activity ovary(1)|skin(1) 2 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCGTGATACCCACCAGTACGA 0.627 24 41 --- --- --- --- PASS CRB1 23418 broad.mit.edu 37 1 197298001 197298002 + Frame_Shift_Del DEL TG - - TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr1:197298001_197298002delTG uc001gtz.2 + 2 655_656 c.520_521delTG c.(520-522)TGTfs p.C174fs CRB1_uc010poz.1_Frame_Shift_Del_p.C105fs|CRB1_uc001gty.1_Frame_Shift_Del_p.C174fs|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Frame_Shift_Del_p.C174fs|CRB1_uc010ppb.1_Frame_Shift_Del_p.C174fs NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 174 Extracellular (Potential).|EGF-like 4; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 CTCCTGCTTCTGTGTCCCAGGA 0.495 21 10 --- --- --- --- C2orf16 84226 broad.mit.edu 37 2 27799780 27799780 + Frame_Shift_Del DEL A - - TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr2:27799780delA uc002rkz.3 + 1 392 c.341delA c.(340-342)CAAfs p.Q114fs NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 114 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) ACAAATTATCAAATCATGGAA 0.418 57 39 --- --- --- --- TET2 54790 broad.mit.edu 37 4 106156934 106156935 + Frame_Shift_Ins INS - T T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr4:106156934_106156935insT uc003hxk.2 + 3 2221_2222 c.1835_1836insT c.(1834-1836)CCTfs p.P612fs TET2_uc011cez.1_Frame_Shift_Ins_p.P633fs|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Frame_Shift_Ins_p.P612fs|TET2_uc003hxi.1_Frame_Shift_Ins_p.P612fs NM_001127208 NP_001120680 Q6N021 TET2_HUMAN tet oncogene family member 2 isoform a 612 Gln-rich. cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.L590_H650del(1) haematopoietic_and_lymphoid_tissue(732)|pancreas(1) 733 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) TCCAACATGCCTGGGGGGCTCC 0.450 Mis N|F MDS 22 22 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149515189 149515189 + Splice_Site DEL A - - rs112122477 TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr7:149515189delA uc010lpk.2 + 81 11577 c.11577_splice c.e81+2 p.E3859_splice NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GACCTCGAGTAACTGCCCCAG 0.562 8 4 --- --- --- --- GRM5 2915 broad.mit.edu 37 11 88300875 88300875 + Frame_Shift_Del DEL T - - TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr11:88300875delT uc001pcq.2 - 7 2176 c.1976delA c.(1975-1977)TACfs p.Y659fs GRM5_uc009yvm.2_Frame_Shift_Del_p.Y659fs NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 659 Helical; Name=3; (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) AAGGGCTGAGTAGCTCATGGC 0.498 42 23 --- --- --- --- ACAN 176 broad.mit.edu 37 15 89398163 89398172 + Frame_Shift_Del DEL GCCTCAGAGG - - TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr15:89398163_89398172delGCCTCAGAGG uc010upo.1 + 12 2721_2730 c.2347_2356delGCCTCAGAGG c.(2347-2358)GCCTCAGAGGAAfs p.A783fs ACAN_uc010upp.1_Frame_Shift_Del_p.A783fs|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 783_786 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AGTGCCCTCTGCCTCAGAGGAACCATCCCC 0.576 8 5 --- --- --- --- KCNG2 26251 broad.mit.edu 37 18 77623691 77623692 + In_Frame_Ins INS - GGC GGC rs71338073 TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chr18:77623691_77623692insGGC uc010xfl.1 + 1 24_25 c.24_25insGGC c.(22-27)insGGC p.13_14insG NM_012283 NP_036415 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, 13_14 Cytoplasmic (Potential). energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CCTGCTccccgggcggcggcgg 0.614 8 4 --- --- --- --- MAGEA3 4102 broad.mit.edu 37 X 151935707 151935707 + Frame_Shift_Del DEL C - - TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx d717b13a-e487-4cad-9aae-4b0d649236c4 767efe3e-b701-4cac-992c-c58a02a715fc g.chrX:151935707delC uc004fgp.2 - 3 669 c.460delG c.(460-462)GCTfs p.A154fs NM_005362 NP_005353 P43357 MAGA3_HUMAN melanoma antigen family A, 3 154 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) GAACTGGAAGCTTTGCTGAAG 0.542 174 84 --- --- --- ---