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 SPATA21 374955 broad.mit.edu 37 1 16736256 16736256 + Missense_Mutation SNP G A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr1:16736256G>A uc001ayn.2 - 6 910 c.427C>T c.(427-429)CGG>TGG p.R143W SPATA21_uc001ayl.1_RNA|SPATA21_uc010occ.1_Missense_Mutation_p.R120W NM_198546 NP_940948 Q7Z572 SPT21_HUMAN spermatogenesis associated 21 143 Pro-rich. calcium ion binding ovary(2)|breast(1) 3 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) GCTGGCAGCCGGGCCCACGAT 0.726 5 12 --- --- --- --- PASS YTHDF2 51441 broad.mit.edu 37 1 29095445 29095445 + Missense_Mutation SNP G C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr1:29095445G>C uc001brc.2 + 5 2218 c.1721G>C c.(1720-1722)CGT>CCT p.R574P YTHDF2_uc001brd.2_Missense_Mutation_p.R571P|YTHDF2_uc010ofx.1_Missense_Mutation_p.R524P|YTHDF2_uc001bre.2_Missense_Mutation_p.R524P NM_016258 NP_057342 Q9Y5A9 YTHD2_HUMAN high glucose-regulated protein 8 574 humoral immune response ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) CTGTAGGAACGTCAAGGTCGT 0.343 15 75 --- --- --- --- PASS ADC 113451 broad.mit.edu 37 1 33585663 33585663 + Missense_Mutation SNP G T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr1:33585663G>T uc001bwr.2 + 12 1850 c.1263G>T c.(1261-1263)CAG>CAT p.Q421H ADC_uc001bws.2_Missense_Mutation_p.Q421H|ADC_uc009vue.2_Missense_Mutation_p.Q421H|ADC_uc001bwt.1_3'UTR|ADC_uc001bwu.2_Missense_Mutation_p.Q326H|ADC_uc001bwv.2_Missense_Mutation_p.Q326H|ADC_uc001bww.2_Missense_Mutation_p.Q326H|ADC_uc001bwx.1_3'UTR|ADC_uc009vug.2_Missense_Mutation_p.Q441H NM_052998 NP_443724 Q96A70 ADC_HUMAN ODC antizyme inhibitor-2 421 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) TGCGAAGGCAGCTGATGGCTG 0.632 4 51 --- --- --- --- PASS DPH2 1802 broad.mit.edu 37 1 44437508 44437508 + Missense_Mutation SNP A C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr1:44437508A>C uc001ckz.2 + 4 1129 c.934A>C c.(934-936)AAG>CAG p.K312Q DPH2_uc001cla.2_Intron|DPH2_uc010okk.1_Missense_Mutation_p.K177Q|DPH2_uc001clb.2_Missense_Mutation_p.K236Q NM_001384 NP_001375 Q9BQC3 DPH2_HUMAN diphthamide biosynthesis protein 2 isoform a 312 peptidyl-diphthamide biosynthetic process from peptidyl-histidine cytoplasm ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) GGCTGCTGGCAAGCGTAGCTA 0.627 8 73 --- --- --- --- PASS ABCA4 24 broad.mit.edu 37 1 94526284 94526284 + Missense_Mutation SNP T C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr1:94526284T>C uc001dqh.2 - 14 2073 c.1969A>G c.(1969-1971)ATC>GTC p.I657V ABCA4_uc010otn.1_Missense_Mutation_p.I657V NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 657 Helical; (Potential). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) ACCATGAAGATAGGGAAACAG 0.363 9 43 --- --- --- --- PASS DPYD 1806 broad.mit.edu 37 1 98058805 98058805 + Missense_Mutation SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr1:98058805C>A uc001drv.2 - 10 1234 c.1097G>T c.(1096-1098)GGC>GTC p.G366V NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 366 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) ATTAACAAAGCCTTTTCTGAA 0.438 45 261 --- --- --- --- PASS DPYD 1806 broad.mit.edu 37 1 98058806 98058806 + Missense_Mutation SNP C T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr1:98058806C>T uc001drv.2 - 10 1233 c.1096G>A c.(1096-1098)GGC>AGC p.G366S NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 366 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TTAACAAAGCCTTTTCTGAAG 0.443 42 263 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103491775 103491775 + Silent SNP C T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr1:103491775C>T uc001dul.2 - 6 1212 c.894G>A c.(892-894)ACG>ACA p.T298T COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Intron|COL11A1_uc001dun.2_Intron|COL11A1_uc009weh.2_Silent_p.T298T NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 298 Nonhelical 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) TTTTTACCTCCGTCTGTGCTA 0.433 5 96 --- --- --- --- PASS SLC16A1 6566 broad.mit.edu 37 1 113460645 113460645 + Missense_Mutation SNP A C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr1:113460645A>C uc001ecx.2 - 4 1215 c.383T>G c.(382-384)TTG>TGG p.L128W SLC16A1_uc001ecy.2_Missense_Mutation_p.L128W|SLC16A1_uc001ecz.2_Missense_Mutation_p.L128W NM_003051 NP_003042 P53985 MOT1_HUMAN solute carrier family 16, member 1 128 Helical; (Potential). blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1) 1 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) AGCTGGATTCAAGTTGAAGGC 0.373 15 51 --- --- --- --- PASS PHTF1 10745 broad.mit.edu 37 1 114253056 114253056 + Missense_Mutation SNP G T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr1:114253056G>T uc009wgp.1 - 10 1541 c.1089C>A c.(1087-1089)AAC>AAA p.N363K PHTF1_uc001edn.2_Missense_Mutation_p.N363K|PHTF1_uc001edm.2_Missense_Mutation_p.N120K|PHTF1_uc001edo.1_Missense_Mutation_p.N120K NM_006608 NP_006599 Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 363 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTCTTGACATGTTGAGGCTTC 0.453 5 44 --- --- --- --- PASS CHD1L 9557 broad.mit.edu 37 1 146739123 146739123 + Nonsense_Mutation SNP C T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr1:146739123C>T uc001epm.3 + 9 997 c.934C>T c.(934-936)CAG>TAG p.Q312* uc001epp.2_Intron|CHD1L_uc001epn.3_Nonsense_Mutation_p.Q199*|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Nonsense_Mutation_p.Q312*|CHD1L_uc010ozp.1_Nonsense_Mutation_p.Q31*|CHD1L_uc001epo.3_Nonsense_Mutation_p.Q108*|CHD1L_uc010ozq.1_5'UTR|CHD1L_uc009wji.2_Nonsense_Mutation_p.Q31* NM_004284 NP_004275 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 312 chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(3)|lung(2)|upper_aerodigestive_tract(1) 6 all_hematologic(923;0.0487) AGTTAAACTACAGAACATTTT 0.378 18 77 --- --- --- --- PASS SETDB1 9869 broad.mit.edu 37 1 150916462 150916462 + Silent SNP C T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr1:150916462C>T uc001evu.2 + 8 1132 c.942C>T c.(940-942)TGC>TGT p.C314C SETDB1_uc009wmf.2_Silent_p.C314C|SETDB1_uc001evv.2_Silent_p.C314C|SETDB1_uc001evw.3_Silent_p.C314C|SETDB1_uc009wmg.1_Silent_p.C314C NM_001145415 NP_001138887 Q15047 SETB1_HUMAN SET domain, bifurcated 1 isoform 1 314 Tudor 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) ATCCCATTTGCCGGCCACGTG 0.428 4 293 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152275778 152275778 + Missense_Mutation SNP T G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr1:152275778T>G uc001ezu.1 - 3 11620 c.11584A>C c.(11584-11586)AGT>CGT p.S3862R NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3862 Filaggrin 23.|Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGCTAACACTGGATCCCTGG 0.577 Ichthyosis 10 409 --- --- --- --- PASS UBE2Q1 55585 broad.mit.edu 37 1 154523919 154523919 + Missense_Mutation SNP G C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr1:154523919G>C uc001fff.1 - 11 1215 c.1124C>G c.(1123-1125)GCC>GGC p.A375G NM_017582 NP_060052 Q7Z7E8 UB2Q1_HUMAN ubiquitin-conjugating enzyme E2Q 375 ATP binding|protein binding|ubiquitin-protein ligase activity 0 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) CACCAGTGTGGCACTGATCTG 0.567 44 220 --- --- --- --- PASS UBE2Q1 55585 broad.mit.edu 37 1 154523920 154523920 + Missense_Mutation SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr1:154523920C>A uc001fff.1 - 11 1214 c.1123G>T c.(1123-1125)GCC>TCC p.A375S NM_017582 NP_060052 Q7Z7E8 UB2Q1_HUMAN ubiquitin-conjugating enzyme E2Q 375 ATP binding|protein binding|ubiquitin-protein ligase activity 0 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) ACCAGTGTGGCACTGATCTGC 0.562 47 222 --- --- --- --- PASS FAM189B 10712 broad.mit.edu 37 1 155223486 155223486 + Missense_Mutation SNP G A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr1:155223486G>A uc001fjm.2 - 5 1157 c.551C>T c.(550-552)GCC>GTC p.A184V RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_5'Flank|FAM189B_uc001fjn.2_Missense_Mutation_p.A88V|FAM189B_uc001fjo.2_Missense_Mutation_p.A165V|FAM189B_uc001fjp.2_RNA|FAM189B_uc001fjq.1_Missense_Mutation_p.A184V NM_006589 NP_006580 P81408 F189B_HUMAN hypothetical protein LOC10712 isoform a 184 Helical; (Potential). integral to membrane WW domain binding ovary(1)|breast(1) 2 GATTATAGCGGCACAAATGGT 0.552 4 163 --- --- --- --- PASS SLAMF1 6504 broad.mit.edu 37 1 160593937 160593937 + Missense_Mutation SNP C T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr1:160593937C>T uc001fwl.3 - 4 1085 c.739G>A c.(739-741)GGT>AGT p.G247S SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_Intron NM_003037 NP_003028 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family 247 Helical; (Potential).|Ig-like V-type. interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity ovary(1)|breast(1) 2 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) ATGATGACACCCCCTAACAGC 0.393 56 316 --- --- --- --- PASS C1orf112 55732 broad.mit.edu 37 1 169801603 169801603 + Missense_Mutation SNP A G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr1:169801603A>G uc001ggp.2 + 17 1805 c.1495A>G c.(1495-1497)ATA>GTA p.I499V C1orf112_uc001ggj.2_RNA|C1orf112_uc001ggq.2_Missense_Mutation_p.I499V|C1orf112_uc009wvt.2_Missense_Mutation_p.I176V|C1orf112_uc009wvu.1_Missense_Mutation_p.I375V|C1orf112_uc001ggr.2_Missense_Mutation_p.I364V|C1orf112_uc010plv.1_Missense_Mutation_p.I441V NM_018186 NP_060656 Q9NSG2 CA112_HUMAN hypothetical protein LOC55732 499 0 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CAACCTATCAATACTGTTGAA 0.413 13 249 --- --- --- --- PASS ABL2 27 broad.mit.edu 37 1 179077770 179077770 + Missense_Mutation SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr1:179077770C>A uc001gmj.3 - 12 2919 c.2632G>T c.(2632-2634)GGG>TGG p.G878W ABL2_uc010pnf.1_Missense_Mutation_p.G775W|ABL2_uc010png.1_Missense_Mutation_p.G754W|ABL2_uc010pnh.1_Missense_Mutation_p.G857W|ABL2_uc001gmg.3_Missense_Mutation_p.G760W|ABL2_uc001gmi.3_Missense_Mutation_p.G863W|ABL2_uc001gmh.3_Missense_Mutation_p.G842W|ABL2_uc010pne.1_Missense_Mutation_p.G739W NM_007314 NP_009298 P42684 ABL2_HUMAN arg tyrosine kinase isoform b 878 F-actin-binding (By similarity).|Pro-rich. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(8)|breast(3)|ovary(2)|central_nervous_system(1) 14 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) ACTCCCACCCCTGGAGGGTCC 0.582 T ETV6 AML 27 110 --- --- --- --- PASS ZNF648 127665 broad.mit.edu 37 1 182026247 182026247 + Missense_Mutation SNP A G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr1:182026247A>G uc001goz.2 - 2 1107 c.899T>C c.(898-900)CTG>CCG p.L300P NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN zinc finger protein 648 300 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GCCCGTGTGCAGGCGCCTGTG 0.697 3 49 --- --- --- --- PASS DSTYK 25778 broad.mit.edu 37 1 205117394 205117394 + Missense_Mutation SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr1:205117394C>A uc001hbw.2 - 12 2605 c.2541G>T c.(2539-2541)AAG>AAT p.K847N DSTYK_uc001hbx.2_Intron NM_015375 NP_056190 Q6XUX3 DUSTY_HUMAN receptor interacting protein kinase 5 isoform 1 847 Protein kinase. cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(1) 1 CCTCAGGGAGCTTGACAGAGC 0.478 22 151 --- --- --- --- PASS C1orf74 148304 broad.mit.edu 37 1 209956791 209956791 + Silent SNP T C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr1:209956791T>C uc001hhp.1 - 2 432 c.189A>G c.(187-189)GCA>GCG p.A63A NM_152485 NP_689698 Q96LT6 CA074_HUMAN hypothetical protein LOC148304 63 skin(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0328) GGAGCTCTGATGCCCCTGCAC 0.552 25 95 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215972468 215972468 + Splice_Site SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr1:215972468C>A uc001hku.1 - 50 10127 c.9740_splice c.e50-1 p.G3247_splice NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CATACTTCACCTGTCAATTTA 0.388 HNSCC(13;0.011) 8 34 --- --- --- --- PASS NUP133 55746 broad.mit.edu 37 1 229600521 229600521 + Missense_Mutation SNP C A A rs139160684 TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr1:229600521C>A uc001htn.2 - 18 2493 c.2401G>T c.(2401-2403)GTG>TTG p.V801L NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 801 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) TGCTCGGTCACGATGTTTCGG 0.483 17 92 --- --- --- --- PASS OR1C1 26188 broad.mit.edu 37 1 247921246 247921246 + Missense_Mutation SNP G T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr1:247921246G>T uc010pza.1 - 1 463 c.463C>A c.(463-465)CAC>AAC p.H155N NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 155 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AGGAGGGCGTGGAGGTAAGTA 0.498 4 41 --- --- --- --- PASS NCOA1 8648 broad.mit.edu 37 2 24985567 24985567 + Silent SNP C G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr2:24985567C>G uc002rfk.2 + 20 4335 c.4077C>G c.(4075-4077)CCC>CCG p.P1359P NCOA1_uc010eye.2_Silent_p.P1359P|NCOA1_uc002rfi.2_Silent_p.P1208P|NCOA1_uc002rfj.2_Silent_p.P1359P|NCOA1_uc002rfl.2_Silent_p.P1359P|NCOA1_uc010eyf.2_Intron NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 1359 PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TAAATGATCCCGCACTGAGAC 0.393 T PAX3 alveolar rhadomyosarcoma 18 530 --- --- --- --- PASS OTOF 9381 broad.mit.edu 37 2 26689649 26689649 + Missense_Mutation SNP T C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr2:26689649T>C uc002rhk.2 - 36 4560 c.4433A>G c.(4432-4434)TAC>TGC p.Y1478C OTOF_uc010yla.1_Missense_Mutation_p.Y208C|OTOF_uc002rhh.2_Missense_Mutation_p.Y711C|OTOF_uc002rhi.2_Missense_Mutation_p.Y788C|OTOF_uc002rhj.2_Missense_Mutation_p.Y711C NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 1478 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAACATGCCGTAGGTGGAGTC 0.597 17 142 --- --- --- --- PASS PREB 10113 broad.mit.edu 37 2 27356432 27356432 + Missense_Mutation SNP T C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr2:27356432T>C uc002rix.1 - 2 546 c.293A>G c.(292-294)CAT>CGT p.H98R PREB_uc002riy.1_Missense_Mutation_p.H26R|PREB_uc002riz.1_RNA|PREB_uc002rja.1_Missense_Mutation_p.H98R NM_013388 NP_037520 Q9HCU5 PREB_HUMAN prolactin regulatory element binding protein 98 Cytoplasmic (Potential). COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|nucleus DNA binding|guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGCTGTTGATGTGCCTGGAA 0.582 10 58 --- --- --- --- PASS C2orf71 388939 broad.mit.edu 37 2 29287800 29287800 + Silent SNP G T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr2:29287800G>T uc002rmt.1 - 2 3802 c.3802C>A c.(3802-3804)CGG>AGG p.R1268R NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 1268 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 TGGCCGGTCCGAGGCTCCGGT 0.682 8 28 --- --- --- --- PASS QPCT 25797 broad.mit.edu 37 2 37586830 37586830 + Silent SNP C T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr2:37586830C>T uc002rqg.2 + 3 497 c.375C>T c.(373-375)AGC>AGT p.S125S QPCT_uc002rqh.2_Silent_p.S76S NM_012413 NP_036545 Q16769 QPCT_HUMAN glutaminyl-peptide cyclotransferase precursor 125 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis extracellular region acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding central_nervous_system(1) 1 Ovarian(717;0.051)|all_hematologic(82;0.21) ATATCATCAGCACCCTCAATC 0.488 23 95 --- --- --- --- PASS ABCG8 64241 broad.mit.edu 37 2 44078862 44078862 + Missense_Mutation SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr2:44078862C>A uc002rtq.2 + 4 552 c.462C>A c.(460-462)CAC>CAA p.H154Q ABCG8_uc010yoa.1_Missense_Mutation_p.H154Q NM_022437 NP_071882 Q9H221 ABCG8_HUMAN ATP-binding cassette sub-family G member 8 154 ABC transporter.|Cytoplasmic (Potential). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity skin(3)|ovary(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGCGCCAGCACAACCAGCTGC 0.617 25 162 --- --- --- --- PASS C2orf78 388960 broad.mit.edu 37 2 74041313 74041313 + Nonsense_Mutation SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr2:74041313C>A uc002sjr.1 + 2 928 c.807C>A c.(805-807)TAC>TAA p.Y269* NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN hypothetical protein LOC388960 269 ovary(2) 2 GGATGTATTACTCTGTGTCTT 0.453 32 210 --- --- --- --- PASS C2orf89 129293 broad.mit.edu 37 2 85097839 85097839 + Missense_Mutation SNP T C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr2:85097839T>C uc010ysl.1 - 2 268 c.179A>G c.(178-180)CAT>CGT p.H60R C2orf89_uc002sou.3_Missense_Mutation_p.H60R|C2orf89_uc010fgc.1_Missense_Mutation_p.H60R NM_001080824 NP_001074293 Q86V40 CB089_HUMAN hypothetical protein LOC129293 precursor 60 Extracellular (Potential). integral to membrane ovary(1) 1 GTACGGGACATGGATTGTGCC 0.478 4 22 --- --- --- --- PASS IL1RL1 9173 broad.mit.edu 37 2 102968090 102968090 + Silent SNP C T T rs112596146 TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr2:102968090C>T uc002tbu.1 + 11 1651 c.1380C>T c.(1378-1380)TAC>TAT p.Y460Y IL18R1_uc002tbw.3_Intron NM_016232 NP_057316 Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 isoform 1 460 TIR.|Cytoplasmic (Potential). innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity skin(2)|ovary(1)|central_nervous_system(1) 4 AGTTTGCCTACGAGCAGGAGG 0.527 13 120 --- --- --- --- PASS ANAPC1 64682 broad.mit.edu 37 2 112608394 112608394 + Missense_Mutation SNP T C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr2:112608394T>C uc002thi.2 - 14 1856 c.1609A>G c.(1609-1611)ACT>GCT p.T537A NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 537 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 GGCTTTGGAGTACTAACGCCA 0.433 5 282 --- --- --- --- PASS MARCO 8685 broad.mit.edu 37 2 119752052 119752052 + Missense_Mutation SNP G T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr2:119752052G>T uc002tln.1 + 17 1651 c.1519G>T c.(1519-1521)GAC>TAC p.D507Y MARCO_uc010yyf.1_Missense_Mutation_p.D429Y NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 507 SRCR.|Extracellular (Potential). cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity ovary(3)|skin(2)|central_nervous_system(1) 6 GGGCCATCATGACTGCAGCCA 0.587 13 64 --- --- --- --- PASS LCT 3938 broad.mit.edu 37 2 136548329 136548329 + Missense_Mutation SNP A T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr2:136548329A>T uc002tuu.1 - 15 5245 c.5234T>A c.(5233-5235)ATT>AAT p.I1745N NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1745 Extracellular (Potential).|4.|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) TGTGACATAAATTGGAGGGTC 0.498 18 119 --- --- --- --- PASS LCT 3938 broad.mit.edu 37 2 136594716 136594716 + Silent SNP G C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr2:136594716G>C uc002tuu.1 - 1 35 c.24C>G c.(22-24)GTC>GTG p.V8V NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 8 carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) GGGCAATAAAGACTACATGCC 0.423 4 137 --- --- --- --- PASS GALNT3 2591 broad.mit.edu 37 2 166616044 166616044 + Missense_Mutation SNP G A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr2:166616044G>A uc010fph.1 - 5 1262 c.875C>T c.(874-876)GCC>GTC p.A292V GALNT3_uc010fpi.1_Missense_Mutation_p.A292V NM_004482 NP_004473 Q14435 GALT3_HUMAN polypeptide N-acetylgalactosaminyltransferase 3 292 Catalytic subdomain A.|Lumenal (Potential). protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(2)|ovary(1) 3 AGCTATTCTGGCCAACAGAGG 0.363 3 30 --- --- --- --- PASS GALNT3 2591 broad.mit.edu 37 2 166626805 166626805 + Missense_Mutation SNP C G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr2:166626805C>G uc010fph.1 - 2 793 c.406G>C c.(406-408)GAA>CAA p.E136Q GALNT3_uc010fpi.1_Missense_Mutation_p.E136Q|GALNT3_uc002udi.2_Missense_Mutation_p.E136Q NM_004482 NP_004473 Q14435 GALT3_HUMAN polypeptide N-acetylgalactosaminyltransferase 3 136 Lumenal (Potential). protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(2)|ovary(1) 3 TTTTGCTCTTCAACACTTAAA 0.458 25 155 --- --- --- --- PASS WDR75 84128 broad.mit.edu 37 2 190331263 190331263 + Missense_Mutation SNP G A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr2:190331263G>A uc002uql.1 + 13 1462 c.1402G>A c.(1402-1404)GGT>AGT p.G468S WDR75_uc002uqm.1_Missense_Mutation_p.G404S|WDR75_uc002uqn.1_Missense_Mutation_p.G246S|WDR75_uc002uqo.1_Missense_Mutation_p.G246S NM_032168 NP_115544 Q8IWA0 WDR75_HUMAN WD repeat domain 75 468 WD 7. nucleolus ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) TAGCAAAGATGGTTACTTCAA 0.338 12 91 --- --- --- --- PASS STAT4 6775 broad.mit.edu 37 2 191934419 191934419 + Missense_Mutation SNP C T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr2:191934419C>T uc002usm.1 - 6 798 c.544G>A c.(544-546)GAT>AAT p.D182N STAT4_uc002usn.1_Missense_Mutation_p.D182N|STAT4_uc010zgk.1_Missense_Mutation_p.D27N|STAT4_uc002uso.2_Missense_Mutation_p.D182N NM_003151 NP_003142 Q14765 STAT4_HUMAN signal transducer and activator of transcription 182 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) AAAAACTTACCCATTGTCTGA 0.318 7 68 --- --- --- --- PASS CCDC150 284992 broad.mit.edu 37 2 197541455 197541455 + Missense_Mutation SNP G C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr2:197541455G>C uc002utp.1 + 12 1575 c.1440G>C c.(1438-1440)GAG>GAC p.E480D CCDC150_uc010zgq.1_RNA|CCDC150_uc010zgr.1_RNA|CCDC150_uc010zgs.1_Missense_Mutation_p.E148D NM_001080539 NP_001074008 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 480 Potential. 0 TTCAGAGGGAGGTAGGTAGAA 0.363 8 74 --- --- --- --- PASS ALS2CR11 151254 broad.mit.edu 37 2 202430541 202430541 + Silent SNP C G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr2:202430541C>G uc002uye.2 - 9 936 c.888G>C c.(886-888)CTG>CTC p.L296L ALS2CR11_uc002uyf.2_Silent_p.L296L|ALS2CR11_uc010fti.2_Silent_p.L296L NM_152525 NP_689738 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 296 large_intestine(1)|ovary(1)|skin(1) 3 CAGTAACATTCAGGTCTGGGG 0.383 13 76 --- --- --- --- PASS PIKFYVE 200576 broad.mit.edu 37 2 209190987 209190987 + Missense_Mutation SNP T A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr2:209190987T>A uc002vcz.2 + 20 3610 c.3452T>A c.(3451-3453)ATG>AAG p.M1151K PIKFYVE_uc010fun.1_Missense_Mutation_p.M832K|PIKFYVE_uc002vcy.1_Missense_Mutation_p.M1095K NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 1151 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 TTGGGTAGAATGCTGGCCGAT 0.468 8 76 --- --- --- --- PASS FN1 2335 broad.mit.edu 37 2 216298158 216298158 + Missense_Mutation SNP T A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr2:216298158T>A uc002vfa.2 - 3 570 c.304A>T c.(304-306)ACT>TCT p.T102S FN1_uc002vfb.2_Missense_Mutation_p.T102S|FN1_uc002vfc.2_Missense_Mutation_p.T102S|FN1_uc002vfd.2_Missense_Mutation_p.T102S|FN1_uc002vfe.2_Missense_Mutation_p.T102S|FN1_uc002vff.2_Missense_Mutation_p.T102S|FN1_uc002vfg.2_Missense_Mutation_p.T102S|FN1_uc002vfh.2_Missense_Mutation_p.T102S|FN1_uc002vfi.2_Missense_Mutation_p.T102S|FN1_uc002vfj.2_Missense_Mutation_p.T102S|FN1_uc002vfl.2_Missense_Mutation_p.T102S NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 102 Fibronectin type-I 2.|Fibrin- and heparin-binding 1. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTGTTCCCAGTGTACTTGTCA 0.493 15 103 --- --- --- --- PASS SLC4A3 6508 broad.mit.edu 37 2 220504424 220504424 + Silent SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr2:220504424C>A uc002vmp.3 + 20 3513 c.3244C>A c.(3244-3246)CGG>AGG p.R1082R SLC4A3_uc002vmo.3_Silent_p.R1109R|SLC4A3_uc010fwm.2_Silent_p.R632R NM_005070 NP_005061 P48751 B3A3_HUMAN solute carrier family 4, anion exchanger, member 1082 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) GCGGGAGCAGCGGGTCACTGG 0.637 6 45 --- --- --- --- PASS PAX3 5077 broad.mit.edu 37 2 223084939 223084939 + Missense_Mutation SNP T A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr2:223084939T>A uc010fwo.2 - 7 1459 c.1093A>T c.(1093-1095)AGC>TGC p.S365C PAX3_uc002vmt.1_Missense_Mutation_p.S365C|PAX3_uc002vmy.1_Missense_Mutation_p.S364C|PAX3_uc002vmv.1_Missense_Mutation_p.S365C|PAX3_uc002vmw.1_Missense_Mutation_p.S365C|PAX3_uc002vmx.1_Missense_Mutation_p.S365C NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 365 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCTGTATAGCTGGAAAATCCA 0.567 T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 10 63 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228892257 228892257 + Silent SNP G T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr2:228892257G>T uc002vpq.2 - 4 296 c.249C>A c.(247-249)GTC>GTA p.V83V SPHKAP_uc002vpp.2_Silent_p.V83V|SPHKAP_uc010zlx.1_Silent_p.V83V NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 83 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TCACAAAGCAGACCTGGGAAA 0.428 27 145 --- --- --- --- PASS THUMPD3 25917 broad.mit.edu 37 3 9424981 9424981 + Missense_Mutation SNP C T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr3:9424981C>T uc003bro.3 + 8 1371 c.1223C>T c.(1222-1224)CCA>CTA p.P408L LOC440944_uc003brm.2_Intron|THUMPD3_uc003brn.3_Missense_Mutation_p.P408L NM_001114092 NP_001107564 Q9BV44 THUM3_HUMAN THUMP domain containing 3 408 methyltransferase activity|protein binding|RNA binding ovary(1) 1 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.101) ACAGATTTGCCATTTGGAAAA 0.383 24 73 --- --- --- --- PASS USP19 10869 broad.mit.edu 37 3 49153267 49153267 + Missense_Mutation SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr3:49153267C>A uc003cwd.1 - 10 1434 c.1273G>T c.(1273-1275)GTG>TTG p.V425L USP19_uc003cwa.2_Missense_Mutation_p.V233L|USP19_uc003cvz.3_Missense_Mutation_p.V528L|USP19_uc011bcg.1_Missense_Mutation_p.V516L|USP19_uc003cwb.2_Missense_Mutation_p.V511L|USP19_uc003cwc.1_Missense_Mutation_p.V183L|USP19_uc011bch.1_Missense_Mutation_p.V526L|USP19_uc011bci.1_Missense_Mutation_p.V513L NM_006677 NP_006668 O94966 UBP19_HUMAN ubiquitin thioesterase 19 425 Cytoplasmic (Potential). ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(4)|breast(2)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCCTTCTCCACAGCCCGGGCC 0.607 5 130 --- --- --- --- PASS BSN 8927 broad.mit.edu 37 3 49698245 49698245 + Silent SNP T C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr3:49698245T>C uc003cxe.3 + 6 9081 c.8967T>C c.(8965-8967)TCT>TCC p.S2989S NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 2989 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GCAAAGAGTCTTTGGCCAAAG 0.572 23 62 --- --- --- --- PASS IFT57 55081 broad.mit.edu 37 3 107925521 107925521 + Missense_Mutation SNP T A A rs10704311 TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr3:107925521T>A uc003dwx.3 - 5 856 c.608A>T c.(607-609)GAA>GTA p.E203V NM_018010 NP_060480 Q9NWB7 IFT57_HUMAN estrogen-related receptor beta like 1 203 activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cilium|microtubule basal body DNA binding|protein binding ovary(1)|skin(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246) AATAAAGTTTTCTTCATTATC 0.279 19 130 --- --- --- --- PASS PHLDB2 90102 broad.mit.edu 37 3 111637980 111637980 + Missense_Mutation SNP G A A rs148898642 by1000genomes TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr3:111637980G>A uc010hqa.2 + 4 2192 c.1781G>A c.(1780-1782)CGG>CAG p.R594Q PHLDB2_uc003dyc.2_Missense_Mutation_p.R621Q|PHLDB2_uc003dyd.2_Missense_Mutation_p.R594Q|PHLDB2_uc003dyg.2_Missense_Mutation_p.R594Q|PHLDB2_uc003dyh.2_Missense_Mutation_p.R594Q|PHLDB2_uc003dyi.2_Missense_Mutation_p.R180Q NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 594 Potential. cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 GAAGAAACCCGGATAGTCATT 0.408 4 360 --- --- --- --- PASS GAP43 2596 broad.mit.edu 37 3 115395053 115395053 + Missense_Mutation SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr3:115395053C>A uc003ebq.2 + 2 610 c.224C>A c.(223-225)GCC>GAC p.A75D GAP43_uc003ebr.2_Missense_Mutation_p.A111D NM_002045 NP_002036 P17677 NEUM_HUMAN growth associated protein 43 isoform 2 75 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.164) GCCCCTGTTGCCGATGGGGTG 0.537 14 115 --- --- --- --- PASS GAP43 2596 broad.mit.edu 37 3 115395054 115395054 + Silent SNP C G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr3:115395054C>G uc003ebq.2 + 2 611 c.225C>G c.(223-225)GCC>GCG p.A75A GAP43_uc003ebr.2_Silent_p.A111A NM_002045 NP_002036 P17677 NEUM_HUMAN growth associated protein 43 isoform 2 75 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.164) CCCCTGTTGCCGATGGGGTGG 0.537 15 114 --- --- --- --- PASS ADPRH 141 broad.mit.edu 37 3 119306408 119306408 + Nonsense_Mutation SNP G T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr3:119306408G>T uc003ecs.2 + 5 1055 c.757G>T c.(757-759)GAG>TAG p.E253* ADPRH_uc010hqv.2_Nonsense_Mutation_p.E253*|ADPRH_uc011bjb.1_Nonsense_Mutation_p.E146*|ADPRH_uc003ect.2_Nonsense_Mutation_p.E253* NM_001125 NP_001116 P54922 ADPRH_HUMAN ADP-ribosylarginine hydrolase 253 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding ovary(1) 1 Lung NSC(201;0.0977) GBM - Glioblastoma multiforme(114;0.23) CGGTGTGAAGGAGAGGGATCA 0.522 8 186 --- --- --- --- PASS CD86 942 broad.mit.edu 37 3 121825253 121825253 + Silent SNP G A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr3:121825253G>A uc003eet.2 + 4 725 c.609G>A c.(607-609)TTG>TTA p.L203L CD86_uc011bjo.1_Silent_p.L121L|CD86_uc011bjp.1_Silent_p.L91L|CD86_uc003eeu.2_Silent_p.L197L NM_175862 NP_787058 P42081 CD86_HUMAN CD86 antigen isoform 1 203 Ig-like C2-type.|Extracellular (Potential). interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding pancreas(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) CCATCAGCTTGTCTGTTTCAT 0.393 70 351 --- --- --- --- PASS PARP14 54625 broad.mit.edu 37 3 122436926 122436926 + Missense_Mutation SNP A G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr3:122436926A>G uc003efq.3 + 13 4068 c.4009A>G c.(4009-4011)AAA>GAA p.K1337E PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.K1054E|PARP14_uc003efs.1_Missense_Mutation_p.K1054E NM_017554 NP_060024 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1337 Macro 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity ovary(2)|breast(2)|lung(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(114;0.0531) AGGAAATGCCAAACAACACCC 0.388 6 66 --- --- --- --- PASS MCM2 4171 broad.mit.edu 37 3 127335787 127335787 + Silent SNP C G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr3:127335787C>G uc003ejp.2 + 10 1656 c.1599C>G c.(1597-1599)CTC>CTG p.L533L MCM2_uc011bkm.1_Silent_p.L403L|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Silent_p.L486L NM_004526 NP_004517 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 533 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(1) 4 CGCAGTTTCTCAAGTATATTG 0.592 4 273 --- --- --- --- PASS PCCB 5096 broad.mit.edu 37 3 136002707 136002707 + Missense_Mutation SNP C G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr3:136002707C>G uc003eqy.1 + 6 623 c.572C>G c.(571-573)CCT>CGT p.P191R PCCB_uc003eqz.1_Missense_Mutation_p.P191R|PCCB_uc011bmc.1_Missense_Mutation_p.P211R|PCCB_uc011bmd.1_Missense_Mutation_p.P108R NM_000532 NP_000523 P05166 PCCB_HUMAN propionyl Coenzyme A carboxylase, beta 191 Carboxyltransferase. fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity 0 Biotin(DB00121)|L-Valine(DB00161) GGAGTCATCCCTCAGATTTCT 0.483 20 115 --- --- --- --- PASS RNF13 11342 broad.mit.edu 37 3 149677870 149677870 + Missense_Mutation SNP G A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr3:149677870G>A uc003exn.3 + 10 1512 c.728G>A c.(727-729)TGT>TAT p.C243Y RNF13_uc003exp.3_Missense_Mutation_p.C243Y|RNF13_uc010hvh.2_Missense_Mutation_p.C124Y NM_007282 NP_009213 O43567 RNF13_HUMAN ring finger protein 13 243 Cytoplasmic (Potential).|RING-type; atypical. protein autoubiquitination endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255) LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TGTGCCATTTGTTTGGATGAG 0.343 20 493 --- --- --- --- PASS MED12L 116931 broad.mit.edu 37 3 150876521 150876521 + Missense_Mutation SNP G A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr3:150876521G>A uc003eyp.2 + 6 810 c.772G>A c.(772-774)GTT>ATT p.V258I MED12L_uc011bnz.1_Missense_Mutation_p.V258I|MED12L_uc003eym.1_Missense_Mutation_p.V258I|MED12L_uc003eyn.2_Missense_Mutation_p.V258I|MED12L_uc003eyo.2_Missense_Mutation_p.V258I NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 258 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GATCCTGGATGTTTTAGAAAA 0.318 6 142 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164907600 164907600 + Missense_Mutation SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr3:164907600C>A uc003fej.3 - 2 1463 c.1019G>T c.(1018-1020)CGA>CTA p.R340L SLITRK3_uc003fek.2_Missense_Mutation_p.R340L NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 340 Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 CCTTGGTGTTCGAGGCTGTTT 0.483 HNSCC(40;0.11) 165 518 --- --- --- --- PASS ALG3 10195 broad.mit.edu 37 3 183963051 183963051 + Silent SNP C T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr3:183963051C>T uc003fne.2 - 4 571 c.540G>A c.(538-540)GTG>GTA p.V180V ALG3_uc011brc.1_Silent_p.V145V|ALG3_uc011brd.1_Silent_p.V124V|ALG3_uc011bre.1_Silent_p.V132V|ALG3_uc003fnf.1_Silent_p.V140V|ALG3_uc011brf.1_Silent_p.V72V NM_005787 NP_005778 Q92685 ALG3_HUMAN alpha-1,3-mannosyltransferase ALG3 isoform a 180 Helical; (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity 0 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGAAGAGCAGCACCATGGCCA 0.547 13 31 --- --- --- --- PASS MUC4 4585 broad.mit.edu 37 3 195505712 195505712 + Missense_Mutation SNP T C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr3:195505712T>C uc011bto.1 - 3 12815 c.12355A>G c.(12355-12357)ACC>GCC p.T4119A MUC4_uc003fva.2_5'UTR|MUC4_uc003fvb.2_5'UTR|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_5'UTR|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_5'UTR|MUC4_uc011bti.1_5'UTR|MUC4_uc011btj.1_5'UTR|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_5'UTR|MUC4_uc011btm.1_5'UTR|MUC4_uc011btn.1_5'UTR|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.T859A NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 1004 Ser-rich.|Repeat. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAAGCTGAGGTAGCACTGCTG 0.587 9 54 --- --- --- --- PASS MUC4 4585 broad.mit.edu 37 3 195517433 195517433 + Missense_Mutation SNP T A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr3:195517433T>A uc011bto.1 - 2 1478 c.1018A>T c.(1018-1020)ACC>TCC p.T340S MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.T222S NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 345 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTGTTGAGGGTGTTGATTTGA 0.468 14 722 --- --- --- --- PASS C4orf44 345222 broad.mit.edu 37 4 3251171 3251171 + Silent SNP G T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr4:3251171G>T uc003ggs.2 + 1 405 c.222G>T c.(220-222)GTG>GTT p.V74V C4orf44_uc003ggt.2_Silent_p.V74V NM_001042690 NP_001036155 Q6ZTZ1 CD044_HUMAN hypothetical protein LOC345222 isoform a 74 0 ACGCCAAGGTGTACGAGAAGA 0.607 7 25 --- --- --- --- PASS CRMP1 1400 broad.mit.edu 37 4 5868448 5868448 + Silent SNP G T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr4:5868448G>T uc003gip.2 - 3 176 c.75C>A c.(73-75)ATC>ATA p.I25I CRMP1_uc003gin.1_5'UTR|CRMP1_uc003giq.2_Silent_p.I25I|CRMP1_uc003gir.2_Silent_p.I20I|CRMP1_uc003gis.2_Silent_p.I139I NM_001313 NP_001304 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 isoform 2 25 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding ovary(2) 2 Colorectal(103;0.0721) GGTCATCGTTGATGATCCGTC 0.443 10 156 --- --- --- --- PASS KIAA1211 57482 broad.mit.edu 37 4 57180943 57180943 + Missense_Mutation SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr4:57180943C>A uc003hbk.2 + 8 1666 c.1275C>A c.(1273-1275)GAC>GAA p.D425E KIAA1211_uc010iha.2_Missense_Mutation_p.D418E|KIAA1211_uc011bzz.1_Missense_Mutation_p.D335E|KIAA1211_uc003hbm.1_Missense_Mutation_p.D311E NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 425 Glu-rich. ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) TTCTGAACGACTTTGAGGAGA 0.458 3 8 --- --- --- --- PASS SEC24B 10427 broad.mit.edu 37 4 110415820 110415820 + Silent SNP A G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr4:110415820A>G uc003hzk.2 + 6 1351 c.1296A>G c.(1294-1296)GAA>GAG p.E432E SEC24B_uc003hzl.2_Silent_p.E397E|SEC24B_uc011cfp.1_Silent_p.E463E|SEC24B_uc011cfq.1_Silent_p.E432E|SEC24B_uc011cfr.1_Silent_p.E397E NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 432 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) CCGCCCCTGAACCTGATCCTG 0.483 44 139 --- --- --- --- PASS ALPK1 80216 broad.mit.edu 37 4 113350351 113350351 + Missense_Mutation SNP C G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr4:113350351C>G uc003iap.3 + 10 1121 c.842C>G c.(841-843)GCC>GGC p.A281G ALPK1_uc003ian.3_Missense_Mutation_p.A281G|ALPK1_uc011cfx.1_Missense_Mutation_p.A203G|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Missense_Mutation_p.A109G NM_025144 NP_079420 Q96QP1 ALPK1_HUMAN alpha-kinase 1 281 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) GCTGCAGAAGCCTGCAAGCTG 0.527 60 180 --- --- --- --- PASS MAD2L1 4085 broad.mit.edu 37 4 120981308 120981308 + Missense_Mutation SNP T C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr4:120981308T>C uc003idl.2 - 5 707 c.583A>G c.(583-585)AGC>GGC p.S195G MAD2L1_uc003idm.2_3'UTR NM_002358 NP_002349 Q13257 MD2L1_HUMAN MAD2-like 1 195 HORMA.|Required for assuming the closed conformation and for interaction with CDC20. S->D: Abolishes interaction with MAD1L1 and reduces interaction with CDC20; when associated with D-170 and D-178.|S->A: Abolishes phosphorylation on serine residues; when associated with A-170 and A-178. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm protein homodimerization activity 0 GCCACCATGCTATTTACTTTG 0.383 8 186 --- --- --- --- PASS SPATA5 166378 broad.mit.edu 37 4 124177257 124177257 + Silent SNP G A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr4:124177257G>A uc003iez.3 + 15 2500 c.2427G>A c.(2425-2427)CAG>CAA p.Q809Q NM_145207 NP_660208 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 809 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity 0 TTAAGCTGCAGTTTCACTCCA 0.423 39 149 --- --- --- --- PASS LRBA 987 broad.mit.edu 37 4 151770705 151770705 + Missense_Mutation SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr4:151770705C>A uc010ipj.2 - 25 4501 c.4027G>T c.(4027-4029)GAC>TAC p.D1343Y LRBA_uc003ilt.3_Missense_Mutation_p.D2Y|LRBA_uc003ilu.3_Missense_Mutation_p.D1343Y NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 1343 WD 1. endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) TTCACGAAGTCCATAACTGTC 0.383 16 113 --- --- --- --- PASS DCHS2 54798 broad.mit.edu 37 4 155256175 155256175 + Missense_Mutation SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr4:155256175C>A uc003inw.2 - 8 1061 c.1061G>T c.(1060-1062)GGG>GTG p.G354V DCHS2_uc003inx.2_Missense_Mutation_p.G853V NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 354 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) AGCTGTGAGCCCACCACCGTC 0.418 11 139 --- --- --- --- PASS TLL1 7092 broad.mit.edu 37 4 167020662 167020662 + Silent SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr4:167020662C>A uc003irh.1 + 20 3537 c.2890C>A c.(2890-2892)CGA>AGA p.R964R TLL1_uc011cjn.1_Silent_p.R987R|TLL1_uc011cjo.1_Silent_p.R788R NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 964 CUB 5. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GGGGCTTGGTCGATTCTGTGG 0.423 5 292 --- --- --- --- PASS AGA 175 broad.mit.edu 37 4 178360790 178360790 + Missense_Mutation SNP T C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr4:178360790T>C uc003iuu.1 - 3 396 c.334A>G c.(334-336)ATT>GTT p.I112V AGA_uc003iuv.1_Missense_Mutation_p.I16V|AGA_uc003iuw.2_Missense_Mutation_p.I16V NM_000027 NP_000018 P20933 ASPG_HUMAN aspartylglucosaminidase precursor 112 asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity 0 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) GCCACACCAATAGCATTTTTA 0.368 83 546 --- --- --- --- PASS FAM173B 134145 broad.mit.edu 37 5 10239279 10239279 + Missense_Mutation SNP G A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr5:10239279G>A uc003jeo.2 - 2 235 c.206C>T c.(205-207)CCG>CTG p.P69L FAM173B_uc003jep.2_RNA|FAM173B_uc010itr.2_Missense_Mutation_p.P69L NM_199133 NP_954584 Q6P4H8 F173B_HUMAN hypothetical protein LOC134145 69 integral to membrane kidney(1)|central_nervous_system(1) 2 AGGTACAAACGGCAAACAGAC 0.527 71 189 --- --- --- --- PASS MARCH6 10299 broad.mit.edu 37 5 10402650 10402650 + Silent SNP T C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr5:10402650T>C uc003jet.1 + 14 1311 c.1128T>C c.(1126-1128)TCT>TCC p.S376S MARCH6_uc011cmu.1_Silent_p.S328S|MARCH6_uc003jeu.1_Silent_p.S74S|MARCH6_uc011cmv.1_Silent_p.S271S NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 376 Cytoplasmic (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 TTAAGGTCTCTTTGTTAGTGG 0.338 18 524 --- --- --- --- PASS H2AFY 9555 broad.mit.edu 37 5 134724756 134724756 + Missense_Mutation SNP A G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr5:134724756A>G uc003lam.1 - 2 238 c.28T>C c.(28-30)TCC>CCC p.S10P H2AFY_uc003lao.1_Missense_Mutation_p.S10P|H2AFY_uc003lan.1_Missense_Mutation_p.S10P|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Missense_Mutation_p.S10P|H2AFY_uc003las.1_Missense_Mutation_p.S10P|H2AFY_uc003lat.1_Missense_Mutation_p.S10P NM_138610 NP_613258 O75367 H2AY_HUMAN H2A histone family, member Y isoform 3 10 Histone H2A. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTCTTGGTGGACTTCTTCTTC 0.612 7 59 --- --- --- --- PASS PSD2 84249 broad.mit.edu 37 5 139216470 139216470 + Missense_Mutation SNP C T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr5:139216470C>T uc003leu.1 + 10 1683 c.1478C>T c.(1477-1479)ACG>ATG p.T493M NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 493 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGAAGGTGACGCGAATCCTG 0.587 9 291 --- --- --- --- PASS PCDHB1 29930 broad.mit.edu 37 5 140433228 140433228 + Missense_Mutation SNP A G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr5:140433228A>G uc003lik.1 + 1 2250 c.2173A>G c.(2173-2175)ACA>GCA p.T725A NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 725 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGAAAAGTTCACAATTCAAGA 0.373 40 148 --- --- --- --- PASS SLC36A2 153201 broad.mit.edu 37 5 150715081 150715081 + Missense_Mutation SNP T A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr5:150715081T>A uc003lty.2 - 6 683 c.553A>T c.(553-555)AAC>TAC p.N185Y GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_5'UTR|SLC36A2_uc010jhv.2_Missense_Mutation_p.N185Y NM_181776 NP_861441 Q495M3 S36A2_HUMAN solute carrier family 36, member 2 185 Extracellular (Potential). cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TAGCAGTTGTTGGTTGTGCTA 0.517 33 141 --- --- --- --- PASS KIAA0319 9856 broad.mit.edu 37 6 24569156 24569156 + Missense_Mutation SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr6:24569156C>A uc011djo.1 - 13 2230 c.1993G>T c.(1993-1995)GGC>TGC p.G665C KIAA0319_uc011djp.1_Missense_Mutation_p.G620C|KIAA0319_uc003neh.1_Missense_Mutation_p.G665C|KIAA0319_uc011djq.1_Missense_Mutation_p.G656C|KIAA0319_uc011djr.1_Missense_Mutation_p.G665C|KIAA0319_uc010jpt.1_Missense_Mutation_p.G76C NM_014809 NP_055624 Q5VV43 K0319_HUMAN KIAA0319 precursor 665 PKD 4.|Extracellular (Potential). negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding ovary(1)|skin(1) 2 GCACTGGGGCCTCTATAAAAC 0.453 18 64 --- --- --- --- PASS SCUBE3 222663 broad.mit.edu 37 6 35209433 35209433 + Missense_Mutation SNP C T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr6:35209433C>T uc003okf.1 + 11 1315 c.1309C>T c.(1309-1311)CCA>TCA p.P437S SCUBE3_uc003okg.1_Missense_Mutation_p.P436S|SCUBE3_uc003okh.1_Missense_Mutation_p.P324S NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 437 protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding skin(1) 1 CCGATTTTTGCCAGGTACATG 0.602 OREG0017372 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 185 --- --- --- --- PASS PI16 221476 broad.mit.edu 37 6 36930839 36930839 + Missense_Mutation SNP C T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr6:36930839C>T uc003ona.2 + 5 1049 c.721C>T c.(721-723)CCG>TCG p.P241S PI16_uc003omz.1_Intron|PI16_uc003onb.2_Intron|PI16_uc011dts.1_Missense_Mutation_p.P12S NM_153370 NP_699201 Q6UXB8 PI16_HUMAN protease inhibitor 16 precursor 241 Extracellular (Potential). extracellular region|integral to membrane peptidase inhibitor activity 0 AACGGGGATTCCGGCTTTCTT 0.562 8 297 --- --- --- --- PASS MCHR2 84539 broad.mit.edu 37 6 100369022 100369022 + Missense_Mutation SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr6:100369022C>A uc003pqh.1 - 6 1132 c.817G>T c.(817-819)GTG>TTG p.V273L MCHR2_uc003pqi.1_Missense_Mutation_p.V273L NM_001040179 NP_001035269 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 273 Helical; Name=6; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 8 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) TGTAAGTTCACCAGTTGTATC 0.468 36 151 --- --- --- --- PASS ASCC3 10973 broad.mit.edu 37 6 100957342 100957342 + Missense_Mutation SNP G C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr6:100957342G>C uc003pqk.2 - 42 6858 c.6529C>G c.(6529-6531)CTC>GTC p.L2177V NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 2177 SEC63 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) GTAACGTTGAGATAGATGTCA 0.388 5 304 --- --- --- --- PASS HACE1 57531 broad.mit.edu 37 6 105177550 105177550 + Missense_Mutation SNP T C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr6:105177550T>C uc003pqu.1 - 24 2994 c.2717A>G c.(2716-2718)TAC>TGC p.Y906C HACE1_uc010kcy.1_Missense_Mutation_p.Y388C|HACE1_uc010kcz.1_Missense_Mutation_p.Y691C|HACE1_uc010kcx.1_Missense_Mutation_p.Y315C|HACE1_uc003pqt.1_Missense_Mutation_p.Y559C NM_020771 NP_065822 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing, E3 906 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity ovary(5)|lung(2) 7 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) TGCCATTGTGTAACCATAGCT 0.388 10 66 --- --- --- --- PASS SAMD3 154075 broad.mit.edu 37 6 130475977 130475977 + Missense_Mutation SNP G A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr6:130475977G>A uc003qbv.2 - 10 1342 c.1016C>T c.(1015-1017)CCT>CTT p.P339L SAMD3_uc003qbx.2_Missense_Mutation_p.P339L|SAMD3_uc003qbw.2_Missense_Mutation_p.P339L NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 isoform 339 ovary(1) 1 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) TACCTGATAAGGGCACTTCAA 0.234 13 76 --- --- --- --- PASS VNN2 8875 broad.mit.edu 37 6 133077133 133077133 + Missense_Mutation SNP G T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr6:133077133G>T uc003qdt.2 - 3 397 c.386C>A c.(385-387)GCC>GAC p.A129D VNN2_uc003qds.2_5'UTR|VNN2_uc010kgb.2_Missense_Mutation_p.A129D|VNN2_uc003qdv.2_Missense_Mutation_p.A76D NM_004665 NP_004656 O95498 VNN2_HUMAN vanin 2 isoform 1 precursor 129 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity 0 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) GTTGTCCTTGGCCAGGCAGCT 0.348 17 48 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152738071 152738071 + Missense_Mutation SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr6:152738071C>A uc010kiw.2 - 41 6103 c.5501G>T c.(5500-5502)GGC>GTC p.G1834V SYNE1_uc003qot.3_Missense_Mutation_p.G1841V|SYNE1_uc003qou.3_Missense_Mutation_p.G1834V|SYNE1_uc010kjb.1_Missense_Mutation_p.G1817V NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1834 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTCAGCACGGCCCAGAGAACC 0.577 HNSCC(10;0.0054) 9 281 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152841636 152841636 + Silent SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr6:152841636C>A uc010kiw.2 - 6 869 c.267G>T c.(265-267)GTG>GTT p.V89V SYNE1_uc003qot.3_Silent_p.V89V|SYNE1_uc003qou.3_Silent_p.V89V|SYNE1_uc010kjb.1_Silent_p.V89V|SYNE1_uc003qpa.1_Silent_p.V89V NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 89 Actin-binding.|Cytoplasmic (Potential).|CH 1. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CAATGTTAGCCACAGCATGGA 0.418 HNSCC(10;0.0054) 51 254 --- --- --- --- PASS PRKAR1B 5575 broad.mit.edu 37 7 720268 720268 + Silent SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr7:720268C>A uc003siu.1 - 4 379 c.273G>T c.(271-273)GTG>GTT p.V91V PRKAR1B_uc003siv.2_Silent_p.V91V|PRKAR1B_uc003siw.1_Silent_p.V91V NM_002735 NP_002726 P31321 KAP1_HUMAN protein kinase, cAMP-dependent, regulatory, type 91 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity 0 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152) GGCGGGCCTTCACCACAGGGT 0.632 16 51 --- --- --- --- PASS MRPL32 64983 broad.mit.edu 37 7 42972022 42972022 + Missense_Mutation SNP T A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr7:42972022T>A uc003tia.2 + 1 84 c.37T>A c.(37-39)TGG>AGG p.W13R C7orf25_uc010kxr.2_5'Flank|PSMA2_uc003thy.2_5'Flank|PSMA2_uc010kxt.2_5'Flank|PSMA2_uc003thz.1_5'Flank|MRPL32_uc003tib.2_RNA|MRPL32_uc003tic.2_5'UTR NM_031903 NP_114109 Q9BYC8 RM32_HUMAN mitochondrial ribosomal protein L32 precursor 13 SPWSAARGVLRNYWERLLRKLPQSRPGFPSPPW -> RRGL RPGECFETTGSDCYGSFRRAGRAFPVLRGV (in Ref. 3). translation large ribosomal subunit|mitochondrial ribosome structural constituent of ribosome 0 GGTTTCGCCGTGGTCTGCGGC 0.647 4 108 --- --- --- --- PASS ZNF107 51427 broad.mit.edu 37 7 64167834 64167834 + Nonsense_Mutation SNP T G G rs142998629 TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr7:64167834T>G uc003ttd.2 + 7 1938 c.1152T>G c.(1150-1152)TAT>TAG p.Y384* ZNF107_uc003tte.2_Nonsense_Mutation_p.Y384* NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 384 C2H2-type 12; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) AGAAATCCTATAAATGTGAAG 0.338 11 75 --- --- --- --- PASS CTTNBP2 83992 broad.mit.edu 37 7 117417585 117417585 + Missense_Mutation SNP C A A rs147958874 by1000genomes TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr7:117417585C>A uc003vjf.2 - 8 2850 c.2758G>T c.(2758-2760)GCT>TCT p.A920S NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 920 ANK 6. ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TTGGAAGCAGCAATGTGGGCA 0.493 17 107 --- --- --- --- PASS TBXAS1 6916 broad.mit.edu 37 7 139661861 139661861 + Silent SNP T G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr7:139661861T>G uc011kqv.1 + 10 1268 c.1104T>G c.(1102-1104)CCT>CCG p.P368P TBXAS1_uc003vvh.2_Silent_p.P322P|TBXAS1_uc010lne.2_Silent_p.P254P|TBXAS1_uc011kqu.1_Silent_p.P273P|TBXAS1_uc003vvi.2_Silent_p.P322P|TBXAS1_uc003vvj.2_Silent_p.P322P|TBXAS1_uc011kqw.1_Silent_p.P302P NM_001130966 NP_001124438 P24557 THAS_HUMAN thromboxane A synthase 1, platelet isoform 321 Lumenal (Potential). hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity ovary(2)|breast(1) 3 Melanoma(164;0.0142) AGCCCAGCCCTATGGCCAGGC 0.542 13 56 --- --- --- --- PASS NOBOX 135935 broad.mit.edu 37 7 144098541 144098541 + Missense_Mutation SNP C T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr7:144098541C>T uc011kue.1 - 4 442 c.442G>A c.(442-444)GGA>AGA p.G148R NM_001080413 NP_001073882 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 148 cell differentiation|oogenesis nucleus sequence-specific DNA binding ovary(1) 1 Melanoma(164;0.14) GTGGCTTCTCCAGAGACTGCT 0.647 4 23 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 147183133 147183133 + Missense_Mutation SNP T A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr7:147183133T>A uc003weu.1 + 11 2293 c.1777T>A c.(1777-1779)TCT>ACT p.S593T NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 593 Extracellular (Potential).|Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CTGCCACAACTGTGAGTGCCA 0.448 HNSCC(39;0.1) 5 59 --- --- --- --- PASS EZH2 2146 broad.mit.edu 37 7 148512021 148512021 + Missense_Mutation SNP G C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr7:148512021G>C uc003wfd.1 - 14 1808 c.1642C>G c.(1642-1644)CAA>GAA p.Q548E EZH2_uc011kug.1_Intron|EZH2_uc003wfb.1_Missense_Mutation_p.Q553E|EZH2_uc003wfc.1_Missense_Mutation_p.Q509E|EZH2_uc011kuh.1_Missense_Mutation_p.Q539E NM_004456 NP_004447 Q15910 EZH2_HUMAN enhancer of zeste 2 isoform a 548 Cys-rich. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1) 183 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) GAACTACATTGACAAAACTTT 0.353 Mis DLBCL 6 75 --- --- --- --- PASS GALNTL5 168391 broad.mit.edu 37 7 151704912 151704912 + Silent SNP G C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr7:151704912G>C uc003wkp.2 + 7 1132 c.909G>C c.(907-909)CGG>CGC p.R303R GALNTL5_uc003wkq.2_Silent_p.R54R|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Silent_p.R192R NM_145292 NP_660335 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 303 Catalytic subdomain B.|Lumenal (Potential). Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups ovary(2) 2 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) CCCTTTCTAGGTCACCTGCAA 0.299 37 265 --- --- --- --- PASS DOCK5 80005 broad.mit.edu 37 8 25250371 25250371 + Silent SNP G A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr8:25250371G>A uc003xeg.2 + 44 4637 c.4500G>A c.(4498-4500)AAG>AAA p.K1500K PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xei.2_Silent_p.K1070K|DOCK5_uc003xej.2_RNA NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1500 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) GGATTCTCAAGTGGTTTGAAG 0.378 4 34 --- --- --- --- PASS SFRP1 6422 broad.mit.edu 37 8 41166547 41166547 + Silent SNP G T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr8:41166547G>T uc003xnt.2 - 1 434 c.132C>A c.(130-132)GGC>GGA p.G44G NM_003012 NP_003003 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 precursor 44 brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1) 1 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) TCTGGTACGGGCCGATGTCCG 0.687 6 37 --- --- --- --- PASS SNAI2 6591 broad.mit.edu 37 8 49832867 49832867 + Silent SNP A G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr8:49832867A>G uc003xqp.2 - 2 377 c.213T>C c.(211-213)AAT>AAC p.N71N NM_003068 NP_003059 O43623 SNAI2_HUMAN snail 2 71 canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) GAGAGAGGCCATTGGGTAGCT 0.577 57 230 --- --- --- --- PASS CA8 767 broad.mit.edu 37 8 61135250 61135250 + Silent SNP G T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr8:61135250G>T uc003xtz.1 - 7 944 c.696C>A c.(694-696)ACC>ACA p.T232T CA8_uc003xua.1_Silent_p.T232T NM_004056 NP_004047 P35219 CAH8_HUMAN carbonic anhydrase VIII 232 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding 0 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) ATAATATCCAGGTGACACCTT 0.458 5 86 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77767540 77767540 + Missense_Mutation SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr8:77767540C>A uc003yav.2 + 10 8635 c.8248C>A c.(8248-8250)CAA>AAA p.Q2750K ZFHX4_uc003yau.1_Missense_Mutation_p.Q2795K|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q2750K NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2750 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGGGTATGATCAAAATAAAAC 0.448 HNSCC(33;0.089) 16 67 --- --- --- --- PASS LYPD2 137797 broad.mit.edu 37 8 143831824 143831824 + Silent SNP G T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr8:143831824G>T uc003ywz.2 - 3 338 c.255C>A c.(253-255)ATC>ATA p.I85I NM_205545 NP_991108 Q6UXB3 LYPD2_HUMAN LY6/PLAUR domain containing 2 precursor 85 UPAR/Ly6. anchored to membrane|plasma membrane 0 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GGGTCTGGCCGATGCCATCCA 0.637 3 9 --- --- --- --- PASS CDKN2A 1029 broad.mit.edu 37 9 21970901 21970901 + Missense_Mutation SNP C T T rs45476696 TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr9:21970901C>T uc003zpk.2 - 2 669 c.457G>A c.(457-459)GAC>AAC p.D153N MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 153 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(16)|p.D153Y(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CAGTCCTCACCTGAGGGACCT 0.597 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 14 56 --- --- --- --- PASS DMRTA1 63951 broad.mit.edu 37 9 22451294 22451294 + Missense_Mutation SNP T C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr9:22451294T>C uc003zpp.1 + 2 1124 c.899T>C c.(898-900)CTG>CCG p.L300P NM_022160 NP_071443 Q5VZB9 DMRTA_HUMAN DMRT-like family A1 300 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|skin(1) 2 all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563) GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517) TCCTCTGATCTGGAATCAGGA 0.468 11 50 --- --- --- --- PASS DDX58 23586 broad.mit.edu 37 9 32488093 32488093 + Missense_Mutation SNP G T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr9:32488093G>T uc003zra.2 - 8 1220 c.1062C>A c.(1060-1062)AAC>AAA p.N354K DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Missense_Mutation_p.N309K|DDX58_uc011lnr.1_Missense_Mutation_p.N151K|DDX58_uc010mji.2_Missense_Mutation_p.N283K NM_014314 NP_055129 O95786 DDX58_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 354 Helicase ATP-binding. detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding ovary(2)|liver(1)|pancreas(1) 4 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;0.00056) CCTTTTTAAGGTTGTTCACAA 0.378 48 149 --- --- --- --- PASS OR1L4 254973 broad.mit.edu 37 9 125487119 125487119 + Missense_Mutation SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr9:125487119C>A uc004bmu.1 + 1 851 c.851C>A c.(850-852)CCC>CAC p.P284H NM_001005235 NP_001005235 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, 284 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GTAGTGACACCCATGCTGAAC 0.413 17 67 --- --- --- --- PASS OR1L4 254973 broad.mit.edu 37 9 125487120 125487120 + Silent SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr9:125487120C>A uc004bmu.1 + 1 852 c.852C>A c.(850-852)CCC>CCA p.P284P NM_001005235 NP_001005235 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, 284 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TAGTGACACCCATGCTGAACC 0.413 16 68 --- --- --- --- PASS DENND1A 57706 broad.mit.edu 37 9 126144596 126144596 + Silent SNP T G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr9:126144596T>G uc004bnz.1 - 22 2378 c.2145A>C c.(2143-2145)CCA>CCC p.P715P DENND1A_uc011lzl.1_Silent_p.P533P|DENND1A_uc004bny.1_Silent_p.P497P|DENND1A_uc011lzm.1_Silent_p.P726P|DENND1A_uc010mwh.1_Silent_p.P136P NM_020946 NP_065997 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A isoform 1 715 Pro-rich. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity ovary(2) 2 GAATGGGCGGTGGAGGCACGA 0.692 4 25 --- --- --- --- PASS SOHLH1 402381 broad.mit.edu 37 9 138586250 138586250 + Missense_Mutation SNP C G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr9:138586250C>G uc004cgl.2 - 7 990 c.929G>C c.(928-930)GGT>GCT p.G310A SOHLH1_uc010nbe.2_Missense_Mutation_p.G310A NM_001012415 NP_001012415 Q5JUK2 SOLH1_HUMAN spermatogenesis and oogenesis specific basic 310 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1) 2 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) CGAGCTGGGACCAGCAGTCAG 0.637 14 54 --- --- --- --- PASS ENTPD2 954 broad.mit.edu 37 9 139945972 139945972 + Missense_Mutation SNP G A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr9:139945972G>A uc004ckw.1 - 3 432 c.376C>T c.(376-378)CGC>TGC p.R126C ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Missense_Mutation_p.R126C NM_203468 NP_982293 Q9Y5L3 ENTP2_HUMAN ectonucleoside triphosphate diphosphohydrolase 2 126 Extracellular (Potential). integral to membrane ATP binding 0 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) TTGAGCAGGCGCATACCCGCT 0.637 5 95 --- --- --- --- PASS DCLRE1C 64421 broad.mit.edu 37 10 14974877 14974877 + Missense_Mutation SNP C G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr10:14974877C>G uc001inn.2 - 9 841 c.756G>C c.(754-756)CAG>CAC p.Q252H DCLRE1C_uc010qbx.1_Missense_Mutation_p.Q252H|DCLRE1C_uc001inl.2_Missense_Mutation_p.Q132H|DCLRE1C_uc009xji.2_Missense_Mutation_p.Q137H|DCLRE1C_uc001inm.2_Missense_Mutation_p.Q132H|DCLRE1C_uc001ino.2_Missense_Mutation_p.Q137H|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Missense_Mutation_p.Q132H|DCLRE1C_uc001inq.2_Missense_Mutation_p.Q132H|DCLRE1C_uc001inr.2_Missense_Mutation_p.Q137H|DCLRE1C_uc009xjj.1_RNA NM_001033855 NP_001029027 Q96SD1 DCR1C_HUMAN artemis protein isoform a 252 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity ovary(1) 1 ATGCATGGATCTGAGTGTTGC 0.418 Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ 55 220 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37425591 37425591 + Missense_Mutation SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr10:37425591C>A uc001iza.1 + 6 743 c.644C>A c.(643-645)ACC>AAC p.T215N NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 271 ANK 6. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 CATCAAAATACCAATCCAGGT 0.284 3 5 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37440998 37440998 + Missense_Mutation SNP C G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr10:37440998C>G uc001iza.1 + 12 1587 c.1488C>G c.(1486-1488)TTC>TTG p.F496L NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 552 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 ATCCGATGTTCCCACCAGAAT 0.284 6 31 --- --- --- --- PASS CRTAC1 55118 broad.mit.edu 37 10 99661269 99661269 + Missense_Mutation SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr10:99661269C>A uc001kou.1 - 8 1480 c.1124G>T c.(1123-1125)CGC>CTC p.R375L CRTAC1_uc001kov.2_Missense_Mutation_p.R364L|CRTAC1_uc001kot.1_Missense_Mutation_p.R165L NM_018058 NP_060528 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 precursor 375 proteinaceous extracellular matrix calcium ion binding ovary(4)|pancreas(1) 5 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) CCGGAAGAGGCGGTTGGCTGA 0.572 14 36 --- --- --- --- PASS EIF3A 8661 broad.mit.edu 37 10 120795713 120795713 + Silent SNP T A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr10:120795713T>A uc001ldu.2 - 22 4133 c.3987A>T c.(3985-3987)CGA>CGT p.R1329R EIF3A_uc010qsu.1_Silent_p.R1295R NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 1329 formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) GGGGAGGAACTCGACGAGGAG 0.458 31 115 --- --- --- --- PASS KCNQ1 3784 broad.mit.edu 37 11 2604765 2604765 + Missense_Mutation SNP C T T rs12720459 TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr11:2604765C>T uc001lwn.2 + 7 1130 c.1022C>T c.(1021-1023)GCG>GTG p.A341V KCNQ1_uc009ydp.1_Missense_Mutation_p.A125V|KCNQ1_uc001lwo.2_Missense_Mutation_p.A214V NM_000218 NP_000209 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like 341 Helical; Name=Segment S6; (Potential). A -> V (in LQT1). blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding ovary(1) 1 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) TCCTTCTTTGCGCTCCCAGCG 0.637 5 233 --- --- --- --- PASS OR52H1 390067 broad.mit.edu 37 11 5566079 5566079 + Silent SNP G C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr11:5566079G>C uc010qzh.1 - 1 675 c.675C>G c.(673-675)TCC>TCG p.S225S HBG2_uc001mak.1_Intron NM_001005289 NP_001005289 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, 225 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTGTGCGTAGGAAACAGCAA 0.507 18 81 --- --- --- --- PASS OR56A3 390083 broad.mit.edu 37 11 5969275 5969275 + Silent SNP G A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr11:5969275G>A uc010qzt.1 + 1 699 c.699G>A c.(697-699)AAG>AAA p.K233K NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, 233 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGAGACTCAAGGCAGAGGGTG 0.517 37 331 --- --- --- --- PASS KCNA4 3739 broad.mit.edu 37 11 30033616 30033616 + Missense_Mutation SNP C G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr11:30033616C>G uc001msk.2 - 2 1762 c.610G>C c.(610-612)GAC>CAC p.D204H NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 204 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TTTTCAGGGTCTCCCAACAAA 0.448 20 135 --- --- --- --- PASS OR5D18 219438 broad.mit.edu 37 11 55587239 55587239 + Missense_Mutation SNP G T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr11:55587239G>T uc010rin.1 + 1 134 c.134G>T c.(133-135)GGG>GTG p.G45V NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 45 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) GGGAATATTGGGTTGATTGTG 0.453 64 283 --- --- --- --- PASS OR5I1 10798 broad.mit.edu 37 11 55703110 55703110 + Missense_Mutation SNP G C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr11:55703110G>C uc010ris.1 - 1 767 c.767C>G c.(766-768)ACT>AGT p.T256S NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 256 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AAAGAGGAGAGTCCCTTGGTA 0.443 5 20 --- --- --- --- PASS SF3B2 10992 broad.mit.edu 37 11 65835483 65835483 + Missense_Mutation SNP G T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr11:65835483G>T uc001ogy.1 + 20 2437 c.2397G>T c.(2395-2397)ATG>ATT p.M799I PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.1_5'Flank NM_006842 NP_006833 Q13435 SF3B2_HUMAN splicing factor 3B subunit 2 799 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(2)|breast(1) 3 GAGGGGCCATGATGGGATCAA 0.512 OREG0021094 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 188 --- --- --- --- PASS MYEOV 26579 broad.mit.edu 37 11 69062870 69062870 + Missense_Mutation SNP C G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr11:69062870C>G uc001oov.2 + 2 499 c.49C>G c.(49-51)CTC>GTC p.L17V MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.L17V|MYEOV_uc001oow.2_5'UTR NM_138768 NP_620123 Q96EZ4 MYEOV_HUMAN myeloma overexpressed 17 0 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) cccgataggtctctgcactcg 0.154 199 109 --- --- --- --- PASS PATE1 160065 broad.mit.edu 37 11 125618609 125618609 + Missense_Mutation SNP T A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr11:125618609T>A uc001qct.2 + 5 374 c.362T>A c.(361-363)CTG>CAG p.L121Q PATE1_uc009zbr.2_Missense_Mutation_p.L109Q NM_138294 NP_612151 Q8WXA2 PATE1_HUMAN expressed in prostate and testis precursor 121 extracellular region 0 AGCCATGACCTGTGCAATGAA 0.438 39 141 --- --- --- --- PASS CACNA1C 775 broad.mit.edu 37 12 2774140 2774140 + Missense_Mutation SNP T A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr12:2774140T>A uc009zdu.1 + 37 4839 c.4526T>A c.(4525-4527)ATG>AAG p.M1509K CACNA1C_uc009zdv.1_Missense_Mutation_p.M1458K|CACNA1C_uc001qkb.2_Missense_Mutation_p.M1461K|CACNA1C_uc001qkc.2_Missense_Mutation_p.M1461K|CACNA1C_uc001qke.2_Missense_Mutation_p.M1450K|CACNA1C_uc001qkf.2_Missense_Mutation_p.M1450K|CACNA1C_uc001qjz.2_Missense_Mutation_p.M1461K|CACNA1C_uc001qkd.2_Missense_Mutation_p.M1461K|CACNA1C_uc001qkg.2_Missense_Mutation_p.M1448K|CACNA1C_uc009zdw.1_Missense_Mutation_p.M1483K|CACNA1C_uc001qkh.2_Missense_Mutation_p.M1450K|CACNA1C_uc001qkl.2_Missense_Mutation_p.M1509K|CACNA1C_uc001qkn.2_Missense_Mutation_p.M1461K|CACNA1C_uc001qko.2_Missense_Mutation_p.M1481K|CACNA1C_uc001qkp.2_Missense_Mutation_p.M1461K|CACNA1C_uc001qkr.2_Missense_Mutation_p.M1478K|CACNA1C_uc001qku.2_Missense_Mutation_p.M1461K|CACNA1C_uc001qkq.2_Missense_Mutation_p.M1489K|CACNA1C_uc001qks.2_Missense_Mutation_p.M1461K|CACNA1C_uc001qkt.2_Missense_Mutation_p.M1461K|CACNA1C_uc001qki.1_Missense_Mutation_p.M1197K|CACNA1C_uc001qkj.1_Missense_Mutation_p.M1197K|CACNA1C_uc001qkk.1_Missense_Mutation_p.M1197K|CACNA1C_uc001qkm.1_Missense_Mutation_p.M1186K|CACNA1C_uc010sea.1_Missense_Mutation_p.M152K NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1509 Phenylalkylamine binding (By similarity).|Dihydropyridine binding (By similarity).|Helical; Name=S6 of repeat IV; (Potential).|IV. axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) AGCTTCTACATGCTCTGTGCC 0.567 5 60 --- --- --- --- PASS CLEC6A 93978 broad.mit.edu 37 12 8610514 8610514 + Missense_Mutation SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr12:8610514C>A uc001qum.1 + 2 169 c.52C>A c.(52-54)CTG>ATG p.L18M NM_001007033 NP_001007034 Q6EIG7 CLC6A_HUMAN dectin-2 18 Cytoplasmic (Potential). defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane sugar binding breast(1) 1 Lung SC(5;0.184) CTGGTTGTCCCTGAGACTCTG 0.493 8 57 --- --- --- --- PASS RIMKLB 57494 broad.mit.edu 37 12 8926333 8926333 + Missense_Mutation SNP A C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr12:8926333A>C uc001quu.2 + 6 1365 c.1114A>C c.(1114-1116)AAC>CAC p.N372H RIMKLB_uc009zgf.1_Intron|RIMKLB_uc001qux.2_Missense_Mutation_p.N372H|RIMKLB_uc010sgl.1_Missense_Mutation_p.N372H|RIMKLB_uc001quw.2_Intron NM_020734 NP_065785 Q9ULI2 RIMKB_HUMAN ribosomal modification protein rimK-like family 372 protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding 0 GGGCCTGTTCAACATGAACCA 0.483 25 104 --- --- --- --- PASS SOX5 6660 broad.mit.edu 37 12 23696294 23696294 + Missense_Mutation SNP C G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr12:23696294C>G uc001rfw.2 - 13 1724 c.1622G>C c.(1621-1623)AGA>ACA p.R541T SOX5_uc001rfx.2_Missense_Mutation_p.R528T|SOX5_uc001rfy.2_Missense_Mutation_p.R420T|SOX5_uc001rfv.2_Missense_Mutation_p.R155T|SOX5_uc010siv.1_Missense_Mutation_p.R528T|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.R493T NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 541 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 CCTATAAATTCTTGACTCTGA 0.438 8 232 --- --- --- --- PASS BCDIN3D 144233 broad.mit.edu 37 12 50236666 50236666 + Missense_Mutation SNP G C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr12:50236666G>C uc001rvh.2 - 1 247 c.205C>G c.(205-207)CTG>GTG p.L69V NM_181708 NP_859059 Q7Z5W3 BN3D2_HUMAN BCDIN3 domain containing 69 Bin3-type SAM. methyltransferase activity ovary(1) 1 TCGAGCCCCAGAATCGGCCCG 0.617 12 239 --- --- --- --- PASS OS9 10956 broad.mit.edu 37 12 58114586 58114586 + Missense_Mutation SNP C T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr12:58114586C>T uc001spj.2 + 15 1957 c.1898C>T c.(1897-1899)GCC>GTC p.A633V OS9_uc010srx.1_Missense_Mutation_p.A372V|OS9_uc001spk.2_Missense_Mutation_p.A618V|OS9_uc001spl.2_Missense_Mutation_p.A578V|OS9_uc001spm.2_Missense_Mutation_p.A563V|OS9_uc001spn.2_Missense_Mutation_p.A579V|OS9_uc010sry.1_Missense_Mutation_p.A546V|OS9_uc010srz.1_Missense_Mutation_p.A504V NM_006812 NP_006803 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum 633 ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding ovary(1) 1 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) GCTGAAGAGGCCCAGAAGGAA 0.657 21 70 --- --- --- --- PASS TMTC3 160418 broad.mit.edu 37 12 88586608 88586608 + Splice_Site SNP G T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr12:88586608G>T uc001tau.2 + 13 2153 c.1933_splice c.e13+1 p.G645_splice NM_181783 NP_861448 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat integral to membrane binding skin(1) 1 CAAGAATCAGGTATGTTTTCT 0.279 7 43 --- --- --- --- PASS NEDD1 121441 broad.mit.edu 37 12 97328810 97328810 + Silent SNP G T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr12:97328810G>T uc001teu.3 + 7 885 c.546G>T c.(544-546)TCG>TCT p.S182S NEDD1_uc001tev.3_Silent_p.S182S|NEDD1_uc010svc.1_Silent_p.S93S|NEDD1_uc001tew.2_Silent_p.S189S|NEDD1_uc001tex.2_Silent_p.S93S NM_152905 NP_690869 Q8NHV4 NEDD1_HUMAN neural precursor cell expressed, developmentally 182 WD 5. cell division|G2/M transition of mitotic cell cycle|mitosis cytosol 0 GCAGTGTTTCGGATAATGGAA 0.363 4 319 --- --- --- --- PASS KIAA0564 23078 broad.mit.edu 37 13 42245198 42245198 + Missense_Mutation SNP C T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr13:42245198C>T uc001uyj.2 - 37 4565 c.4495G>A c.(4495-4497)GTT>ATT p.V1499I NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 1499 extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) ACAGTAACAACACCGCTTTTG 0.478 55 255 --- --- --- --- PASS ERCC5 2073 broad.mit.edu 37 13 103513987 103513987 + Missense_Mutation SNP A G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr13:103513987A>G uc001vpw.2 + 7 1246 c.803A>G c.(802-804)GAT>GGT p.D268G ERCC5_uc001vpu.1_Missense_Mutation_p.D722G|ERCC5_uc010tjb.1_Missense_Mutation_p.D268G|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.D100G NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein 268 negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CAGTATGAAGATGAAGGGGGC 0.403 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 43 157 --- --- --- --- PASS RALGAPA1 253959 broad.mit.edu 37 14 36133969 36133969 + Missense_Mutation SNP G A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr14:36133969G>A uc001wti.2 - 26 4080 c.3689C>T c.(3688-3690)CCA>CTA p.P1230L RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.P1230L|RALGAPA1_uc010tpv.1_Missense_Mutation_p.P1243L|RALGAPA1_uc010tpw.1_Missense_Mutation_p.P1277L NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 1230 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 TTCTACTCTTGGTGCCTATGT 0.353 8 73 --- --- --- --- PASS MDGA2 161357 broad.mit.edu 37 14 47389251 47389251 + Silent SNP C T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr14:47389251C>T uc001wwj.3 - 10 2191 c.1995G>A c.(1993-1995)GTG>GTA p.V665V MDGA2_uc001wwi.3_Silent_p.V436V|MDGA2_uc010ani.2_Silent_p.V225V NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 665 spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 CAATCCGATCCACTGCATCAG 0.428 12 73 --- --- --- --- PASS DCAF5 8816 broad.mit.edu 37 14 69521877 69521877 + Missense_Mutation SNP C A A rs150859516 TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr14:69521877C>A uc001xkp.2 - 9 1745 c.1526G>T c.(1525-1527)CGC>CTC p.R509L DCAF5_uc001xkq.2_Missense_Mutation_p.R508L NM_003861 NP_003852 Q96JK2 DCAF5_HUMAN WD repeat domain 22 509 CUL4 RING ubiquitin ligase complex ovary(1)|central_nervous_system(1) 2 ACGCTGCTGGCGAGAGGCTGC 0.592 15 27 --- --- --- --- PASS C14orf48 256369 broad.mit.edu 37 14 94467537 94467537 + Missense_Mutation SNP G C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr14:94467537G>C uc001ycg.1 + 4 643 c.37G>C c.(37-39)GGT>CGT p.G13R C14orf48_uc001ycf.2_RNA|C14orf48_uc010twp.1_RNA NR_024184 Homo sapiens cDNA FLJ40422 fis, clone TESTI2038858. 0 Epithelial(152;0.114)|all cancers(159;0.191)|COAD - Colon adenocarcinoma(157;0.208) TGGAGGCCACGGTGAAGCACT 0.667 12 35 --- --- --- --- PASS C14orf68 283600 broad.mit.edu 37 14 100795213 100795213 + Missense_Mutation SNP C T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr14:100795213C>T uc001yhc.2 + 5 551 c.478C>T c.(478-480)CGC>TGC p.R160C C14orf68_uc001yhd.2_Missense_Mutation_p.R14C NM_207117 NP_997000 Q6Q0C1 S2547_HUMAN chromosome 14 open reading frame 68 160 Solcar 2. transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 Melanoma(154;0.152) GCCCAAGTACCGCGGGCCACT 0.701 4 31 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106845549 106845549 + RNA SNP G T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr14:106845549G>T uc010tyt.1 - 304 c.12168C>A Parts of antibodies, mostly variable regions. 0 TCCAGAGGCTGCACAGGAGAG 0.572 14 215 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34105732 34105732 + Missense_Mutation SNP G T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr15:34105732G>T uc001zhi.2 + 74 10524 c.10454G>T c.(10453-10455)CGG>CTG p.R3485L RYR3_uc010bar.2_Missense_Mutation_p.R3480L NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3485 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) CAACGGAAACGGGCAGTGGTG 0.522 25 190 --- --- --- --- PASS SHC4 399694 broad.mit.edu 37 15 49255141 49255141 + Missense_Mutation SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr15:49255141C>A uc001zxb.1 - 1 501 c.72G>T c.(70-72)ATG>ATT p.M24I NM_203349 NP_976224 Q6S5L8 SHC4_HUMAN rai-like protein 24 CH2. intracellular signal transduction cell junction|postsynaptic membrane ovary(3)|pancreas(2) 5 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) CCCTGTGCAGCATCCCGGGGT 0.622 26 154 --- --- --- --- PASS LINGO1 84894 broad.mit.edu 37 15 77907356 77907356 + Missense_Mutation SNP G A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr15:77907356G>A uc002bct.1 - 2 945 c.893C>T c.(892-894)CCC>CTC p.P298L LINGO1_uc002bcu.1_Missense_Mutation_p.P292L NM_032808 NP_116197 Q96FE5 LIGO1_HUMAN leucine-rich repeat neuronal 6A 298 Extracellular (Potential).|LRR 9. P -> R (in Ref. 5; AAH68558). negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane ovary(1)|lung(1) 2 GGTGCTGATGGGGTTGTAGGA 0.617 11 82 --- --- --- --- PASS ACSBG1 23205 broad.mit.edu 37 15 78473261 78473261 + Silent SNP C A A rs147846122 TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr15:78473261C>A uc002bdh.2 - 9 1145 c.1089G>T c.(1087-1089)ACG>ACT p.T363T ACSBG1_uc010umw.1_Silent_p.T359T|ACSBG1_uc010umx.1_Silent_p.T121T|ACSBG1_uc010umy.1_Silent_p.T256T NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN lipidosin 363 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity ovary(1) 1 CCTCCCGCAGCGTGTTCACCA 0.652 3 107 --- --- --- --- PASS ACSBG1 23205 broad.mit.edu 37 15 78526837 78526837 + Missense_Mutation SNP G T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr15:78526837G>T uc002bdh.2 - 1 63 c.7C>A c.(7-9)CGC>AGC p.R3S ACSBG1_uc010umw.1_Missense_Mutation_p.R3S|ACSBG1_uc010umx.1_5'UTR|ACSBG1_uc010umy.1_5'UTR NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN lipidosin 3 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity ovary(1) 1 CCAGAATTGCGTGGCATCTGC 0.632 15 99 --- --- --- --- PASS OR4F6 390648 broad.mit.edu 37 15 102346435 102346435 + Silent SNP T C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr15:102346435T>C uc010utr.1 + 1 513 c.513T>C c.(511-513)CCT>CCC p.P171P NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, 171 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TCTGTGGCCCTAATGAATTAG 0.383 4 520 --- --- --- --- PASS TSC2 7249 broad.mit.edu 37 16 2138231 2138231 + Missense_Mutation SNP G C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr16:2138231G>C uc002con.2 + 41 5270 c.5164G>C c.(5164-5166)GCC>CCC p.A1722P TSC2_uc010bsd.2_Missense_Mutation_p.A1699P|TSC2_uc002coo.2_Missense_Mutation_p.A1655P|TSC2_uc010uvv.1_Missense_Mutation_p.A1619P|TSC2_uc010uvw.1_Missense_Mutation_p.A1607P|TSC2_uc002cop.2_Missense_Mutation_p.A1478P|TSC2_uc002coq.2_Missense_Mutation_p.A497P|TSC2_uc002cor.2_Missense_Mutation_p.A423P NM_000548 NP_000539 P49815 TSC2_HUMAN tuberous sclerosis 2 isoform 1 1722 Rap-GAP. cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1) 10 Hepatocellular(780;0.0202) TCCCCAGATGGCCTCACAGGT 0.647 D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 8 135 --- --- --- --- PASS ABCC12 94160 broad.mit.edu 37 16 48158195 48158195 + Missense_Mutation SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr16:48158195C>A uc002efc.1 - 10 1862 c.1516G>T c.(1516-1518)GGG>TGG p.G506W ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.G506W NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 506 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) AAGATCTTCCCCTGCCAGAGA 0.537 66 256 --- --- --- --- PASS CYLD 1540 broad.mit.edu 37 16 50825602 50825602 + Splice_Site SNP G T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr16:50825602G>T uc002egp.1 + 15 2656 c.2241_splice c.e15+1 p.E747_splice CYLD_uc010cbs.1_Splice_Site_p.E744_splice|CYLD_uc002egq.1_Splice_Site_p.E744_splice|CYLD_uc002egr.1_Splice_Site_p.E744_splice NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3) 28 all_cancers(37;0.0156) ATTTGCAGAGGTTAGTGATAC 0.343 Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial 20 103 --- --- --- --- PASS SALL1 6299 broad.mit.edu 37 16 51175941 51175941 + Silent SNP G A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr16:51175941G>A uc010vgs.1 - 2 223 c.192C>T c.(190-192)AAC>AAT p.N64N SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 64 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TTTTAGTACAGTTCTTCTTGT 0.478 70 304 --- --- --- --- PASS OR3A2 4995 broad.mit.edu 37 17 3181486 3181486 + Silent SNP G T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr17:3181486G>T uc002fvg.2 - 1 783 c.744C>A c.(742-744)TCC>TCA p.S248S NM_002551 NP_002542 P47893 OR3A2_HUMAN olfactory receptor, family 3, subfamily A, 248 Helical; Name=6; (Potential). sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1) 1 AGCCACACGTGGAGAAGGCCT 0.522 17 69 --- --- --- --- PASS UBB 7314 broad.mit.edu 37 17 16285542 16285542 + Silent SNP G A A rs17052364 TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr17:16285542G>A uc002gpx.2 + 2 459 c.321G>A c.(319-321)CAG>CAA p.Q107Q UBB_uc010vwe.1_Intron NM_018955 NP_061828 P0CG47 UBB_HUMAN ubiquitin B precursor 107 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding skin(3) 3 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) CCAAGATCCAGGATAAAGAAG 0.537 4 174 --- --- --- --- PASS PPP1R1B 84152 broad.mit.edu 37 17 37790145 37790145 + Missense_Mutation SNP G A A rs139360619 TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr17:37790145G>A uc002hrz.2 + 5 718 c.251G>A c.(250-252)CGC>CAC p.R84H PPP1R1B_uc002hsa.2_Missense_Mutation_p.R95H|PPP1R1B_uc010cvx.2_Missense_Mutation_p.R51H|PPP1R1B_uc002hsb.2_Missense_Mutation_p.R48H|PPP1R1B_uc002hsc.2_Missense_Mutation_p.R48H NM_032192 NP_115568 Q9UD71 PPR1B_HUMAN protein phosphatase 1, regulatory (inhibitor) 84 signal transduction cytosol protein kinase inhibitor activity|protein phosphatase inhibitor activity 0 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GCTGTGCAGCGCATTGCTGAG 0.577 14 377 --- --- --- --- PASS CCR10 2826 broad.mit.edu 37 17 40832121 40832121 + Missense_Mutation SNP C G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr17:40832121C>G uc002iax.3 - 2 543 c.539G>C c.(538-540)AGC>ACC p.S180T CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank NM_016602 NP_057686 P46092 CCR10_HUMAN CC chemokine receptor 10 180 Extracellular (Potential). integral to plasma membrane 0 Breast(137;0.000153) BRCA - Breast invasive adenocarcinoma(366;0.14) CCCATCCTGGCTGAAGAGCAG 0.716 3 19 --- --- --- --- PASS MYST2 11143 broad.mit.edu 37 17 47904775 47904775 + Missense_Mutation SNP G A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr17:47904775G>A uc002ipm.2 + 15 1873 c.1747G>A c.(1747-1749)GAG>AAG p.E583K MYST2_uc010wma.1_Missense_Mutation_p.E444K|MYST2_uc010wmb.1_Missense_Mutation_p.E473K|MYST2_uc010wmc.1_Missense_Mutation_p.E414K|MYST2_uc010wmd.1_Missense_Mutation_p.E427K|MYST2_uc010wme.1_Missense_Mutation_p.E397K|MYST2_uc010wmf.1_Missense_Mutation_p.E248K|MYST2_uc010wmg.1_Missense_Mutation_p.E138K NM_007067 NP_008998 O95251 MYST2_HUMAN MYST histone acetyltransferase 2 583 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 CCTGATTGATGAGTGGATAGC 0.443 7 61 --- --- --- --- PASS LUC7L3 51747 broad.mit.edu 37 17 48824020 48824020 + Silent SNP C T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr17:48824020C>T uc002isr.2 + 9 1212 c.1095C>T c.(1093-1095)AGC>AGT p.S365S LUC7L3_uc010wmw.1_Silent_p.S289S|LUC7L3_uc002isq.2_Silent_p.S365S|LUC7L3_uc002iss.2_Silent_p.S365S NM_006107 NP_006098 O95232 LC7L3_HUMAN LUC7-like 3 365 Arg/Ser-rich. apoptosis|mRNA processing|response to stress|RNA splicing focal adhesion|nuclear speck DNA binding|mRNA binding|protein binding 0 AGCACAGGAGCAAAAGTCGGG 0.413 6 120 --- --- --- --- PASS KIAA0195 9772 broad.mit.edu 37 17 73494306 73494306 + Silent SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr17:73494306C>A uc002jnz.3 + 28 3815 c.3540C>A c.(3538-3540)ATC>ATA p.I1180I KIAA0195_uc010wsa.1_Silent_p.I1190I|KIAA0195_uc010wsb.1_Silent_p.I820I|KIAA0195_uc002job.3_Silent_p.I188I NM_014738 NP_055553 Q12767 K0195_HUMAN hypothetical protein LOC9772 1180 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism ovary(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GCCTCACCATCAGCTCCTGCC 0.617 8 169 --- --- --- --- PASS EPB41L3 23136 broad.mit.edu 37 18 5397278 5397278 + Missense_Mutation SNP C T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr18:5397278C>T uc002kmt.1 - 18 2706 c.2620G>A c.(2620-2622)GCG>ACG p.A874T EPB41L3_uc010wzh.1_Missense_Mutation_p.A705T|EPB41L3_uc002kmu.1_Missense_Mutation_p.A652T|EPB41L3_uc010dkq.1_Missense_Mutation_p.A543T|EPB41L3_uc002kms.1_Missense_Mutation_p.A109T|EPB41L3_uc010wze.1_Missense_Mutation_p.A179T|EPB41L3_uc010wzf.1_Missense_Mutation_p.A171T|EPB41L3_uc010wzg.1_Missense_Mutation_p.A146T|EPB41L3_uc010dkr.2_Missense_Mutation_p.A266T NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 874 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 CTGTCTCCCGCCGAGTAAGAA 0.622 32 121 --- --- --- --- PASS SETBP1 26040 broad.mit.edu 37 18 42532153 42532153 + Missense_Mutation SNP G A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr18:42532153G>A uc010dni.2 + 4 3144 c.2848G>A c.(2848-2850)GAC>AAC p.D950N NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 950 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) AAACCGCGATGACCTCCAGTT 0.507 Schinzel-Giedion_syndrome 36 154 --- --- --- --- PASS WDR7 23335 broad.mit.edu 37 18 54398770 54398770 + Missense_Mutation SNP C G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr18:54398770C>G uc002lgk.1 + 14 2142 c.1931C>G c.(1930-1932)GCC>GGC p.A644G WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.A644G NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 644 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) AAAAATATGGCCCATCATAAG 0.443 28 168 --- --- --- --- PASS ALPK2 115701 broad.mit.edu 37 18 56191230 56191230 + Missense_Mutation SNP A T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr18:56191230A>T uc002lhj.3 - 7 5780 c.5566T>A c.(5566-5568)TAT>AAT p.Y1856N NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 1856 Ig-like 2. ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 CAGCAGTAATAGAGTCCCTGG 0.468 11 58 --- --- --- --- PASS THEG 51298 broad.mit.edu 37 19 371313 371313 + Silent SNP A T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr19:371313A>T uc002lol.2 - 6 684 c.645T>A c.(643-645)CCT>CCA p.P215P THEG_uc002lom.2_Silent_p.P191P NM_016585 NP_057669 Q9P2T0 THEG_HUMAN Theg homolog isoform 1 215 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding ovary(1) 1 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGGCCAGACAGGAGTCGTCC 0.488 50 235 --- --- --- --- PASS OR2Z1 284383 broad.mit.edu 37 19 8842130 8842130 + Missense_Mutation SNP T C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr19:8842130T>C uc010xkg.1 + 1 740 c.740T>C c.(739-741)GTA>GCA p.V247A NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, 247 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 CACATCACGGTAGTGGGGCTC 0.567 24 128 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9046738 9046738 + Silent SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr19:9046738C>A uc002mkp.2 - 5 35097 c.34893G>T c.(34891-34893)GTG>GTT p.V11631V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11633 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CCTGTGAGGTCACTACCCCTG 0.527 31 208 --- --- --- --- PASS OR7E24 26648 broad.mit.edu 37 19 9362030 9362030 + Missense_Mutation SNP A C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr19:9362030A>C uc002mlb.1 + 1 311 c.311A>C c.(310-312)CAA>CCA p.Q104P NM_001079935 NP_001073404 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, 104 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GTGGACATGCAAACTCACAGC 0.507 4 129 --- --- --- --- PASS KRI1 65095 broad.mit.edu 37 19 10671094 10671094 + Missense_Mutation SNP C G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr19:10671094C>G uc002moy.1 - 9 721 c.712G>C c.(712-714)GAG>CAG p.E238Q KRI1_uc002mow.1_5'UTR|KRI1_uc002mox.1_Missense_Mutation_p.E234Q NM_023008 NP_075384 Q8N9T8 KRI1_HUMAN KRI1 homolog 238 Glu-rich. ovary(1) 1 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) TCATCCAACTCAGGGTCGTTC 0.423 6 151 --- --- --- --- PASS GCDH 2639 broad.mit.edu 37 19 13006857 13006857 + Missense_Mutation SNP G C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr19:13006857G>C uc002mvq.2 + 7 634 c.557G>C c.(556-558)AGT>ACT p.S186T GCDH_uc010xms.1_Missense_Mutation_p.S153T|GCDH_uc002mvp.2_Missense_Mutation_p.S186T|GCDH_uc010xmt.1_Missense_Mutation_p.V32L|GCDH_uc010xmu.1_Missense_Mutation_p.S142T NM_000159 NP_000150 Q92947 GCDH_HUMAN glutaryl-Coenzyme A dehydrogenase isoform a 186 FAD. Substrate; via carbonyl oxygen. lysine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding 0 AACAGCGGAAGTGACCCCAGC 0.592 20 226 --- --- --- --- PASS ZNF100 163227 broad.mit.edu 37 19 21910571 21910571 + Silent SNP T A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr19:21910571T>A uc002nqi.2 - 5 742 c.543A>T c.(541-543)CCA>CCT p.P181P ZNF100_uc002nqh.2_Silent_p.P117P NM_173531 NP_775802 Q8IYN0 ZN100_HUMAN zinc finger protein 100 181 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTTTTGCAGATGGATCACATT 0.303 38 179 --- --- --- --- PASS WDR62 284403 broad.mit.edu 37 19 36549714 36549714 + Silent SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr19:36549714C>A uc002odc.2 + 2 301 c.210C>A c.(208-210)GCC>GCA p.A70A WDR62_uc002odd.2_Silent_p.A70A|WDR62_uc010eer.2_Silent_p.A70A|WDR62_uc002odb.2_Silent_p.A70A NM_173636 NP_775907 O43379 WDR62_HUMAN WD repeat domain 62 isoform 2 70 cerebral cortex development nucleus 0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GCATCACAGCCCAGAACAGCA 0.587 4 70 --- --- --- --- PASS SIGLEC9 27180 broad.mit.edu 37 19 51628484 51628484 + Missense_Mutation SNP G C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr19:51628484G>C uc002pvu.2 + 1 320 c.253G>C c.(253-255)GAG>CAG p.E85Q SIGLEC9_uc010yct.1_Missense_Mutation_p.E85Q NM_014441 NP_055256 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 precursor 85 Extracellular (Potential).|Ig-like V-type. 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) GGCAGTGTGGGAGGAGACTCG 0.567 20 189 --- --- --- --- PASS SIGLEC14 100049587 broad.mit.edu 37 19 52148782 52148782 + Silent SNP A G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr19:52148782A>G uc002pxf.3 - 4 822 c.702T>C c.(700-702)TAT>TAC p.Y234Y NM_001098612 NP_001092082 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 precursor 234 Extracellular (Potential). cell adhesion integral to membrane|plasma membrane protein binding|sugar binding ovary(1) 1 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) TCTGTGGAGCATCTGGGATAG 0.567 10 180 --- --- --- --- PASS ZNF649 65251 broad.mit.edu 37 19 52394814 52394814 + Missense_Mutation SNP T C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr19:52394814T>C uc002pxy.2 - 5 843 c.575A>G c.(574-576)CAG>CGG p.Q192R ZNF577_uc010ydf.1_5'Flank NM_023074 NP_075562 Q9BS31 ZN649_HUMAN zinc finger protein 649 192 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) CTCAGTGAGCTGAGACTTCTT 0.448 4 510 --- --- --- --- PASS USP29 57663 broad.mit.edu 37 19 57640252 57640252 + Missense_Mutation SNP G T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr19:57640252G>T uc002qny.2 + 4 565 c.209G>T c.(208-210)AGT>ATT p.S70I NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 70 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AAAAGACAAAGTCACCTGCGT 0.338 4 97 --- --- --- --- PASS SLC13A3 64849 broad.mit.edu 37 20 45192146 45192146 + Silent SNP G C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr20:45192146G>C uc002xsf.1 - 12 1577 c.1539C>G c.(1537-1539)GGC>GGG p.G513G SLC13A3_uc010ghn.1_Silent_p.G482G|SLC13A3_uc010zxw.1_Silent_p.G463G|SLC13A3_uc002xsg.1_Silent_p.G466G|SLC13A3_uc010gho.1_Silent_p.G431G|SLC13A3_uc010zxx.1_Silent_p.G415G|SLC13A3_uc002xse.1_Silent_p.G4G|SLC13A3_uc010ghm.1_Silent_p.G100G|SLC13A3_uc010zxv.1_Silent_p.G98G NM_022829 NP_073740 Q8WWT9 S13A3_HUMAN solute carrier family 13 member 3 isoform a 513 Helical; (Potential). integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) AGCCGACTGTGCCCGGAATCA 0.607 3 45 --- --- --- --- PASS ZBP1 81030 broad.mit.edu 37 20 56190586 56190586 + Missense_Mutation SNP G C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr20:56190586G>C uc002xyo.2 - 3 591 c.310C>G c.(310-312)CAG>GAG p.Q104E ZBP1_uc010gjm.2_Missense_Mutation_p.Q104E|ZBP1_uc002xyp.2_Missense_Mutation_p.Q29E|ZBP1_uc010zzn.1_Missense_Mutation_p.Q104E NM_030776 NP_110403 Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 isoform a 104 DRADA 2. cytoplasm|nucleus double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding ovary(2) 2 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) TGGCTGAACTGAGGGCCAGGG 0.582 31 135 --- --- --- --- PASS CDH4 1002 broad.mit.edu 37 20 60419830 60419830 + Missense_Mutation SNP G T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr20:60419830G>T uc002ybn.1 + 5 697 c.683G>T c.(682-684)CGG>CTG p.R228L CDH4_uc002ybp.1_Missense_Mutation_p.R154L NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 228 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) ATGTCCGGCCGGATGTACGTC 0.632 18 60 --- --- --- --- PASS NTSR1 4923 broad.mit.edu 37 20 61386218 61386218 + Missense_Mutation SNP G A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr20:61386218G>A uc002ydf.2 + 2 1267 c.896G>A c.(895-897)CGG>CAG p.R299Q NM_002531 NP_002522 P30989 NTR1_HUMAN neurotensin receptor 1 299 Cytoplasmic (Potential). endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled skin(2)|lung(1)|central_nervous_system(1) 4 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) CAGGCCCTGCGGCACGGCGTG 0.697 7 25 --- --- --- --- PASS BAGE2 85319 broad.mit.edu 37 21 11097586 11097586 + Missense_Mutation SNP C G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr21:11097586C>G uc002yit.1 - 2 284 c.76G>C c.(76-78)GTG>CTG p.V26L BAGE_uc002yix.2_RNA NM_182482 NP_872288 B melanoma antigen family, member 2 precursor 0 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) cagctcaccacaggggactcc 0.124 6 106 --- --- --- --- PASS TRPM2 7226 broad.mit.edu 37 21 45821654 45821654 + Silent SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr21:45821654C>A uc002zet.1 + 17 2625 c.2412C>A c.(2410-2412)CTC>CTA p.L804L TRPM2_uc002zeu.1_Silent_p.L804L|TRPM2_uc002zew.1_Silent_p.L804L|TRPM2_uc010gpt.1_Silent_p.L804L|TRPM2_uc002zex.1_Silent_p.L590L|TRPM2_uc002zey.1_Silent_p.L317L NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 804 Helical; (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 TGAACATCCTCTCCTACTTCG 0.642 52 737 --- --- --- --- PASS CECR1 51816 broad.mit.edu 37 22 17690370 17690370 + Silent SNP G C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr22:17690370G>C uc002zmk.1 - 1 410 c.198C>G c.(196-198)CTC>CTG p.L66L CECR1_uc010gqu.1_Silent_p.L66L|CECR1_uc011agi.1_Silent_p.L24L|CECR1_uc011agj.1_Silent_p.L24L NM_017424 NP_059120 Q9NZK5 CECR1_HUMAN cat eye syndrome critical region protein 1 66 Dimerization. adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding ovary(1) 1 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) CAGCGATTTTGAGCGTCATGA 0.532 18 108 --- --- --- --- PASS SMCR7L 54471 broad.mit.edu 37 22 39908337 39908337 + Silent SNP T G G TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr22:39908337T>G uc003axx.2 + 5 921 c.423T>G c.(421-423)ACT>ACG p.T141T SMCR7L_uc003axw.2_Silent_p.T141T|SMCR7L_uc010gxz.1_5'UTR|SMCR7L_uc003axy.2_5'UTR NM_019008 NP_061881 Q9NQG6 SMC7L_HUMAN hypothetical protein LOC54471 141 integral to membrane|mitochondrion central_nervous_system(1) 1 Melanoma(58;0.04) AACTTCTTACTTACTACCGGA 0.612 43 78 --- --- --- --- PASS ST13 6767 broad.mit.edu 37 22 41222545 41222545 + Silent SNP C A A rs12373984 TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr22:41222545C>A uc003aze.2 - 12 1250 c.1107G>T c.(1105-1107)GCG>GCT p.A369A ST13_uc011aow.1_Silent_p.A359A NM_003932 NP_003923 P50502 F10A1_HUMAN heat shock 70kD protein binding protein 369 protein binding, bridging 0 AAGGACATTACGCTTGACCTC 0.413 156 469 --- --- --- --- PASS PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45258351 45258351 + Missense_Mutation SNP C T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr22:45258351C>T uc003bfd.2 + 17 2080 c.1808C>T c.(1807-1809)GCA>GTA p.A603V PRR5-ARHGAP8_uc003bfc.2_Missense_Mutation_p.A524V|PRR5-ARHGAP8_uc011aqi.1_Missense_Mutation_p.A515V|PRR5-ARHGAP8_uc011aqj.1_Missense_Mutation_p.A446V|ARHGAP8_uc010gzv.2_3'UTR|ARHGAP8_uc003bfj.2_Missense_Mutation_p.A424V|ARHGAP8_uc003bfk.2_Missense_Mutation_p.A393V|ARHGAP8_uc003bfl.2_RNA NM_181335 NP_851852 Rho GTPase activating protein 8 isoform 2 skin(2) 2 CACGGCCTGGCACCATGGGAA 0.617 8 135 --- --- --- --- PASS ARHGAP6 395 broad.mit.edu 37 X 11204358 11204358 + Missense_Mutation SNP T C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chrX:11204358T>C uc004cup.1 - 5 2144 c.1271A>G c.(1270-1272)CAT>CGT p.H424R ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.H424R|ARHGAP6_uc004cum.1_Missense_Mutation_p.H221R|ARHGAP6_uc004cun.1_Missense_Mutation_p.H244R|ARHGAP6_uc010neb.1_Missense_Mutation_p.H246R|ARHGAP6_uc011mif.1_Missense_Mutation_p.H221R NM_013427 NP_038286 O43182 RHG06_HUMAN Rho GTPase activating protein 6 isoform 1 424 Rho-GAP. actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity urinary_tract(1)|lung(1) 2 CTACTTACCATGTTTTTCTAG 0.393 61 79 --- --- --- --- PASS KIAA2022 340533 broad.mit.edu 37 X 73959296 73959296 + Missense_Mutation SNP A T T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chrX:73959296A>T uc004eby.2 - 4 5112 c.4495T>A c.(4495-4497)TTT>ATT p.F1499I NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 1499 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 AAAACCCAAAAGGTTGTTTCT 0.358 18 27 --- --- --- --- PASS MAGEE2 139599 broad.mit.edu 37 X 75004435 75004435 + Missense_Mutation SNP G T T rs143829521 byFrequency TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chrX:75004435G>T uc004ecj.1 - 1 637 c.452C>A c.(451-453)GCT>GAT p.A151D NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 151 MAGE 1. ovary(1)|skin(1) 2 GTAGGTGTCAGCCTGAGGATC 0.517 9 34 --- --- --- --- PASS TBX22 50945 broad.mit.edu 37 X 79278709 79278709 + Missense_Mutation SNP G C C TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chrX:79278709G>C uc010nmg.1 + 3 460 c.326G>C c.(325-327)GGG>GCG p.G109A TBX22_uc004edi.1_5'UTR|TBX22_uc004edj.1_Missense_Mutation_p.G109A NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 109 T-box. multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 CATGACATCGGGACTGAGATG 0.468 22 54 --- --- --- --- PASS F9 2158 broad.mit.edu 37 X 138643921 138643921 + Silent SNP C A A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chrX:138643921C>A uc004fas.1 + 8 1106 c.1077C>A c.(1075-1077)GTC>GTA p.V359V F9_uc004fat.1_Silent_p.V321V NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 359 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) GGGGAAGAGTCTTCCACAAAG 0.428 44 67 --- --- --- --- PASS MYOM2 9172 broad.mit.edu 37 8 2024249 2024250 + Frame_Shift_Del DEL CG - - rs145411559 TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx f3ed705b-e5aa-4756-9794-e4b85303693a ce952445-af56-4361-b414-5fea59352da2 g.chr8:2024249_2024250delCG uc003wpx.3 + 11 1287_1288 c.1149_1150delCG c.(1147-1152)CCCGGTfs p.P383fs MYOM2_uc011kwi.1_Intron NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 383_384 Fibronectin type-III 1. muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CAGGGGCCCCCGGTGCACCCAT 0.609 34 16 --- --- --- ---