Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter CCDC27 148870 broad.mit.edu 37 1 3686367 3686367 + Silent SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:3686367G>A uc001akv.2 + 11 1845 c.1764G>A c.(1762-1764)AAG>AAA p.K588K LOC388588_uc001akw.3_5'Flank NM_152492 NP_689705 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 588 skin(1) 1 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) TAAGGAATAAGATCATCCAGG 0.542 8 44 --- --- --- --- PASS PRAMEF1 65121 broad.mit.edu 37 1 12854302 12854302 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:12854302G>A uc001auj.1 + 3 629 c.526G>A c.(526-528)GGT>AGT p.G176S NM_023013 NP_075389 O95521 PRAM1_HUMAN PRAME family member 1 176 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCAAAGGAGAGGTTTAGTACA 0.408 33 161 --- --- --- --- PASS EPHA2 1969 broad.mit.edu 37 1 16458597 16458597 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:16458597C>T uc001aya.1 - 13 2424 c.2287G>A c.(2287-2289)GTG>ATG p.V763M NM_004431 NP_004422 P29317 EPHA2_HUMAN ephrin receptor EphA2 precursor 763 Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential). activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding lung(3)|central_nervous_system(3)|stomach(2)|ovary(2) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) TCCTCCAGCACGCGGGACAGG 0.612 9 39 --- --- --- --- PASS CELA3A 10136 broad.mit.edu 37 1 22336260 22336260 + Silent SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:22336260G>T uc001bfl.2 + 7 724 c.705G>T c.(703-705)GTG>GTT p.V235V NM_005747 NP_005738 P09093 CEL3A_HUMAN elastase 3A, pancreatic preproprotein 235 Peptidase S1. cholesterol metabolic process|digestion|proteolysis serine-type endopeptidase activity haematopoietic_and_lymphoid_tissue(1) 1 TCCACGGTGTGACCAGCTTTG 0.592 4 25 --- --- --- --- PASS CLSPN 63967 broad.mit.edu 37 1 36204180 36204180 + Missense_Mutation SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:36204180T>C uc001bzi.2 - 21 3514 c.3434A>G c.(3433-3435)GAT>GGT p.D1145G CLSPN_uc009vux.2_Missense_Mutation_p.D1081G NM_022111 NP_071394 Q9HAW4 CLSPN_HUMAN claspin 1145 activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm anaphase-promoting complex binding|DNA binding breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1) 8 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CTGGGAAGCATCATCTAAACA 0.433 11 34 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39799732 39799732 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:39799732G>T uc010oiu.1 + 1 2923 c.2792G>T c.(2791-2793)AGA>ATA p.R931I MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 2496 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTTTTGGAGAGAGAGGAGGCC 0.403 5 99 --- --- --- --- PASS DAB1 1600 broad.mit.edu 37 1 57602295 57602295 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:57602295C>T uc001cys.1 - 6 901 c.227G>A c.(226-228)CGT>CAT p.R76H DAB1_uc001cyt.1_Missense_Mutation_p.R76H|DAB1_uc001cyq.1_Missense_Mutation_p.R76H|DAB1_uc001cyr.1_Missense_Mutation_p.R76H|DAB1_uc009vzw.1_Missense_Mutation_p.R76H|DAB1_uc009vzx.1_Missense_Mutation_p.R76H NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 76 PID. cell differentiation|nervous system development skin(2)|ovary(1) 3 TCCTTTGGAACGAGCGCCAGC 0.403 5 20 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75037053 75037053 + Missense_Mutation SNP C G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:75037053C>G uc001dgg.2 - 14 4560 c.4341G>C c.(4339-4341)GAG>GAC p.E1447D NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1447 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CTTCCTCTTGCTCCTGTCCTA 0.587 11 46 --- --- --- --- PASS AK5 26289 broad.mit.edu 37 1 77752691 77752691 + Missense_Mutation SNP A C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:77752691A>C uc001dhn.2 + 2 383 c.126A>C c.(124-126)TTA>TTC p.L42F AK5_uc001dho.2_Missense_Mutation_p.L16F|AK5_uc001dhm.1_Missense_Mutation_p.L42F NM_174858 NP_777283 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 isoform 1 42 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity skin(1) 1 AAAGTTGTTTACAAAAAGTAA 0.378 9 57 --- --- --- --- PASS MAGI3 260425 broad.mit.edu 37 1 114184866 114184866 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:114184866C>A uc001edk.2 + 10 1875 c.1694C>A c.(1693-1695)TCC>TAC p.S565Y MAGI3_uc001edh.3_Missense_Mutation_p.S590Y|MAGI3_uc001edi.3_Missense_Mutation_p.S565Y|MAGI3_uc010owm.1_Missense_Mutation_p.S590Y|MAGI3_uc001edj.2_Missense_Mutation_p.S286Y NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 590 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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) CAGAGAGTATCCATGGCATCG 0.502 19 99 --- --- --- --- PASS BCL2L15 440603 broad.mit.edu 37 1 114424399 114424399 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:114424399C>T uc001edw.2 - 3 642 c.470G>A c.(469-471)GGT>GAT p.G157D uc001edv.1_Intron|BCL2L15_uc001edx.2_Intron|BCL2L15_uc001edy.2_Intron|BCL2L15_uc001edz.1_RNA NM_001010922 NP_001010922 Q5TBC7 B2L15_HUMAN pro-apoptotic Bcl-2 protein 157 apoptosis ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-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) ACTTACCCAACCTCCCTGGCC 0.483 13 19 --- --- --- --- PASS CD101 9398 broad.mit.edu 37 1 117559924 117559924 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:117559924C>A uc010oxb.1 + 5 1499 c.1441C>A c.(1441-1443)CAT>AAT p.H481N CD101_uc009whd.2_Missense_Mutation_p.H481N|CD101_uc010oxc.1_Missense_Mutation_p.H481N|CD101_uc010oxd.1_Missense_Mutation_p.H419N NM_004258 NP_004249 Q93033 IGSF2_HUMAN immunoglobulin superfamily, member 2 precursor 481 Extracellular (Potential).|Ig-like C2-type 4. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 ACCCAGTTACCATGGCAACAC 0.572 6 149 --- --- --- --- PASS MAN1A2 10905 broad.mit.edu 37 1 118039520 118039520 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:118039520G>T uc001ehd.1 + 10 2141 c.1420G>T c.(1420-1422)GGT>TGT p.G474C MAN1A2_uc009whg.1_Missense_Mutation_p.G264C NM_006699 NP_006690 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 474 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity 0 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) AGGAGCAGATGGTTCCAGAGC 0.423 7 133 --- --- --- --- PASS HMGCS2 3158 broad.mit.edu 37 1 120293471 120293471 + Missense_Mutation SNP C G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:120293471C>G uc001eid.2 - 9 1532 c.1481G>C c.(1480-1482)CGA>CCA p.R494P HMGCS2_uc010oxj.1_Missense_Mutation_p.R452P|HMGCS2_uc001eie.2_Missense_Mutation_p.R402P NM_005518 NP_005509 P54868 HMCS2_HUMAN hydroxymethylglutaryl-CoA synthase 2 isoform 1 494 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity ovary(2) 2 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) CTCGTCCACTCGCTCCAGGTA 0.512 3 44 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144912276 144912276 + Missense_Mutation SNP C G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:144912276C>G uc001elw.3 - 15 2290 c.1999G>C c.(1999-2001)GTG>CTG p.V667L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.V733L|PDE4DIP_uc001emc.1_Missense_Mutation_p.V667L|PDE4DIP_uc001emd.1_Missense_Mutation_p.V667L|PDE4DIP_uc001emb.1_Missense_Mutation_p.V830L|PDE4DIP_uc001eme.1_Missense_Mutation_p.V196L|PDE4DIP_uc001emf.1_Missense_Mutation_p.V452L NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 667 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.V667L(1) ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AAGGCTTGCACCAACTTCTCT 0.383 T PDGFRB MPD 4 59 --- --- --- --- PASS HRNR 388697 broad.mit.edu 37 1 152187842 152187842 + Missense_Mutation SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:152187842G>C uc001ezt.1 - 3 6339 c.6263C>G c.(6262-6264)TCC>TGC p.S2088C NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2088 23. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGACCGACCGGAGCCAGACCC 0.617 31 90 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152281741 152281741 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:152281741G>A uc001ezu.1 - 3 5657 c.5621C>T c.(5620-5622)TCA>TTA p.S1874L NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1874 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) GCCGTCTCCTGATTGTTTCTC 0.572 Ichthyosis 106 240 --- --- --- --- PASS LCE1E 353135 broad.mit.edu 37 1 152759781 152759781 + Silent SNP C G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:152759781C>G uc001fan.2 + 2 59 c.6C>G c.(4-6)TCC>TCG p.S2S NM_178353 NP_848130 Q5T753 LCE1E_HUMAN late cornified envelope 1E 2 keratinization 0 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCGAGATGTCCTGCCAGCAGA 0.488 18 168 --- --- --- --- PASS NUP210L 91181 broad.mit.edu 37 1 154098875 154098875 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:154098875C>A uc001fdw.2 - 10 1322 c.1250G>T c.(1249-1251)GGA>GTA p.G417V NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.G417V NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 417 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) ATGGTAAGATCCATTCACGGT 0.398 17 56 --- --- --- --- PASS NUP210L 91181 broad.mit.edu 37 1 154098876 154098876 + Nonsense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:154098876C>A uc001fdw.2 - 10 1321 c.1249G>T c.(1249-1251)GGA>TGA p.G417* NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Nonsense_Mutation_p.G417* NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 417 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TGGTAAGATCCATTCACGGTA 0.398 17 57 --- --- --- --- PASS FLAD1 80308 broad.mit.edu 37 1 154962919 154962919 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:154962919G>A uc001fgf.1 + 5 1823 c.1469G>A c.(1468-1470)CGG>CAG p.R490Q FLAD1_uc001fgd.1_3'UTR|FLAD1_uc001fge.1_Missense_Mutation_p.R393Q|FLAD1_uc001fgg.1_Missense_Mutation_p.R393Q|FLAD1_uc001fgh.1_Intron NM_025207 NP_079483 Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase isoform 490 FAD synthase. FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity ovary(2)|skin(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGCACCCGCCGGACTGACCCC 0.622 4 24 --- --- --- --- PASS ARHGEF2 9181 broad.mit.edu 37 1 155921325 155921325 + Splice_Site SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:155921325C>A uc001fmt.2 - 19 2327 c.2209_splice c.e19-1 p.E737_splice ARHGEF2_uc001fmq.2_5'Flank|ARHGEF2_uc001fmr.2_Splice_Site_p.E709_splice|ARHGEF2_uc001fms.2_Splice_Site_p.E736_splice|ARHGEF2_uc001fmu.2_Splice_Site_p.E781_splice NM_001162383 NP_001155855 Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor 2 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding ovary(1) 1 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) GTAACGCCTCCTGAGGACAGA 0.557 6 100 --- --- --- --- PASS IQGAP3 128239 broad.mit.edu 37 1 156507028 156507028 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:156507028G>A uc001fpf.2 - 27 3442 c.3367C>T c.(3367-3369)CTC>TTC p.L1123F NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1123 Ras-GAP. small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GTCATGGCGAGGAGGTTGCGT 0.552 43 32 --- --- --- --- PASS CD1D 912 broad.mit.edu 37 1 158151308 158151308 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:158151308C>A uc001frr.2 + 3 624 c.125C>A c.(124-126)ACG>AAG p.T42K CD1D_uc009wsr.1_Missense_Mutation_p.T42K|CD1D_uc009wss.2_Missense_Mutation_p.T42K|CD1D_uc009wst.1_5'UTR NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 42 Extracellular (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) AGCAGCTGGACGCGCACCGAC 0.632 95 84 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158609467 158609467 + Silent SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:158609467A>G uc001fst.1 - 35 5084 c.4885T>C c.(4885-4887)TTG>CTG p.L1629L NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1629 Spectrin 16. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) ATGGCCAGCAATGTCTCTGCC 0.468 27 62 --- --- --- --- PASS RGS5 8490 broad.mit.edu 37 1 163138133 163138133 + Nonsense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:163138133C>A uc001gcn.2 - 2 317 c.70G>T c.(70-72)GGA>TGA p.G24* RGS5_uc009wvb.2_Intron NM_003617 NP_003608 O15539 RGS5_HUMAN regulator of G-protein signalling 5 24 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|plasma membrane GTPase activator activity|signal transducer activity 0 LUSC - Lung squamous cell carcinoma(543;0.187) AGGAGAATTCCCAACTTGATC 0.448 6 132 --- --- --- --- PASS FMO4 2329 broad.mit.edu 37 1 171303694 171303694 + Silent SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:171303694G>C uc001gho.2 + 8 1189 c.972G>C c.(970-972)GTG>GTC p.V324V NM_002022 NP_002013 P31512 FMO4_HUMAN flavin containing monooxygenase 4 324 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding kidney(2)|skin(1) 3 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TTGATGTTGTGATCTTCACTA 0.373 8 98 --- --- --- --- PASS FMO4 2329 broad.mit.edu 37 1 171303698 171303698 + Missense_Mutation SNP T G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:171303698T>G uc001gho.2 + 8 1193 c.976T>G c.(976-978)TTC>GTC p.F326V NM_002022 NP_002013 P31512 FMO4_HUMAN flavin containing monooxygenase 4 326 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding kidney(2)|skin(1) 3 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TGTTGTGATCTTCACTACAGG 0.363 7 96 --- --- --- --- PASS RFWD2 64326 broad.mit.edu 37 1 176012899 176012899 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:176012899C>A uc001gku.1 - 13 1733 c.1477G>T c.(1477-1479)GGC>TGC p.G493C RFWD2_uc001gkv.1_Missense_Mutation_p.G469C|RFWD2_uc001gkw.1_Missense_Mutation_p.G253C|RFWD2_uc009wwv.2_Missense_Mutation_p.G292C|RFWD2_uc001gkt.1_Missense_Mutation_p.G332C NM_022457 NP_071902 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2 isoform a 493 WD 2. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 ATAACAGTGCCTTCATAATCA 0.328 7 192 --- --- --- --- PASS RASAL2 9462 broad.mit.edu 37 1 178425846 178425846 + Silent SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:178425846C>A uc001glr.2 + 11 1904 c.1779C>A c.(1777-1779)TCC>TCA p.S593S RASAL2_uc001glq.2_Intron|RASAL2_uc009wxc.2_Silent_p.S107S NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 593 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 GTGAAAATTCCTTCCTACAGG 0.468 9 336 --- --- --- --- PASS IVNS1ABP 10625 broad.mit.edu 37 1 185270621 185270621 + Silent SNP A C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:185270621A>C uc001grl.2 - 9 1463 c.840T>G c.(838-840)GCT>GCG p.A280A IVNS1ABP_uc001gri.2_5'UTR|IVNS1ABP_uc001grj.2_5'UTR|IVNS1ABP_uc009wyj.2_Silent_p.A62A|IVNS1ABP_uc009wyk.2_RNA|IVNS1ABP_uc001grm.2_5'UTR NM_006469 NP_006460 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 280 Sufficient for AHR interaction and signaling. interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex ovary(4)|central_nervous_system(1) 5 TTTGTACTGTAGCATTTGGAG 0.398 37 69 --- --- --- --- PASS FAM5C 339479 broad.mit.edu 37 1 190195245 190195245 + Missense_Mutation SNP A T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:190195245A>T uc001gse.1 - 6 1160 c.928T>A c.(928-930)TGG>AGG p.W310R FAM5C_uc010pot.1_Missense_Mutation_p.W208R NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 310 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TAAGCTTTCCAGGTTTCAGTT 0.368 22 18 --- --- --- --- PASS CHIT1 1118 broad.mit.edu 37 1 203191413 203191413 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:203191413C>A uc001gzn.2 - 7 742 c.646G>T c.(646-648)GGC>TGC p.G216C FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_Missense_Mutation_p.G7C|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.G207C NM_003465 NP_003456 Q13231 CHIT1_HUMAN chitotriosidase precursor 216 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity 0 TCCCAAGAGCCATGGAAGTCG 0.562 13 25 --- --- --- --- PASS LAX1 54900 broad.mit.edu 37 1 203740494 203740494 + Splice_Site SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:203740494G>T uc001haa.2 + 3 610 c.200_splice c.e3-1 p.R67_splice LAX1_uc010pql.1_Splice_Site_p.R51_splice|LAX1_uc001hab.2_Splice_Site NM_017773 NP_060243 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 isoform a B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2) 2 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) TTGCCTTGCAGGACAAGTTCC 0.507 7 284 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216262403 216262403 + Missense_Mutation SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:216262403T>C uc001hku.1 - 23 5224 c.4837A>G c.(4837-4839)ATT>GTT p.I1613V NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1613 Laminin G-like 1.|Extracellular (Potential). 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) TGATGCCTAATAGCAATTATT 0.368 HNSCC(13;0.011) 9 104 --- --- --- --- PASS EPRS 2058 broad.mit.edu 37 1 220179558 220179558 + Missense_Mutation SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:220179558T>C uc001hly.1 - 15 2110 c.1840A>G c.(1840-1842)ACA>GCA p.T614A EPRS_uc010puf.1_Missense_Mutation_p.T365A|EPRS_uc001hlz.1_Missense_Mutation_p.T621A|EPRS_uc009xdt.1_Intron NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 614 Glutamyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) AGAGCATGTGTAGTCTCTGCA 0.388 23 69 --- --- --- --- PASS MIA3 375056 broad.mit.edu 37 1 222835412 222835412 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:222835412C>A uc001hnl.2 + 25 5137 c.5128C>A c.(5128-5130)CCT>ACT p.P1710T MIA3_uc001hnm.2_Missense_Mutation_p.P588T NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1710 Pro-rich.|Cytoplasmic (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) AGTGGACGGGCCTCTACCTCA 0.433 11 59 --- --- --- --- PASS SUSD4 55061 broad.mit.edu 37 1 223396739 223396739 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:223396739G>T uc001hnx.2 - 7 1930 c.1296C>A c.(1294-1296)AGC>AGA p.S432R SUSD4_uc001hny.3_Missense_Mutation_p.S432R|SUSD4_uc010puw.1_Missense_Mutation_p.S272R NM_017982 NP_060452 Q5VX71 SUSD4_HUMAN sushi domain containing 4 isoform a 432 Cytoplasmic (Potential). integral to membrane 0 GBM - Glioblastoma multiforme(131;0.0611) AGCCTGAGACGCTGTCACAGG 0.617 22 15 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237991683 237991683 + Silent SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:237991683C>T uc001hyl.1 + 102 14713 c.14593C>T c.(14593-14595)CTA>TTA p.L4865L RYR2_uc010pyb.1_Silent_p.L298L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4865 Helical; Name=M10; (Potential). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AACACCAGGTCTAATTATTGA 0.388 5 14 --- --- --- --- PASS RGS7 6000 broad.mit.edu 37 1 241031891 241031891 + Missense_Mutation SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:241031891G>C uc001hyv.2 - 9 935 c.605C>G c.(604-606)CCC>CGC p.P202R RGS7_uc010pyh.1_Missense_Mutation_p.P176R|RGS7_uc010pyj.1_Missense_Mutation_p.P118R|RGS7_uc001hyu.2_Missense_Mutation_p.P202R|RGS7_uc009xgn.1_Missense_Mutation_p.P149R|RGS7_uc001hyw.2_Missense_Mutation_p.P202R|RGS7_uc001hyt.2_Missense_Mutation_p.P34R NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 202 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GCTTACCACGGGCCTGTGCAC 0.507 9 135 --- --- --- --- PASS CNST 163882 broad.mit.edu 37 1 246784903 246784903 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:246784903G>T uc001ibp.2 + 3 930 c.552G>T c.(550-552)TTG>TTT p.L184F CNST_uc001ibo.3_Missense_Mutation_p.L184F NM_152609 NP_689822 Q6PJW8 CNST_HUMAN hypothetical protein LOC163882 isoform 1 184 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding 0 TTGAGCAGTTGGATTCAAGAG 0.453 8 303 --- --- --- --- PASS NLRP3 114548 broad.mit.edu 37 1 247607428 247607428 + Nonsense_Mutation SNP A T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:247607428A>T uc001icr.2 + 9 2962 c.2824A>T c.(2824-2826)AAG>TAG p.K942* NLRP3_uc001ics.2_Nonsense_Mutation_p.K885*|NLRP3_uc001icu.2_Nonsense_Mutation_p.K942*|NLRP3_uc001icw.2_Nonsense_Mutation_p.K885*|NLRP3_uc001icv.2_Nonsense_Mutation_p.K828*|NLRP3_uc010pyw.1_Nonsense_Mutation_p.K920* NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 942 LRR 8. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding p.K942N(1) lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CCCCGACTGCAAGCTTCAGGT 0.507 37 59 --- --- --- --- PASS OR2T4 127074 broad.mit.edu 37 1 248525863 248525863 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:248525863G>T uc001ieh.1 + 1 981 c.981G>T c.(979-981)AAG>AAT p.K327N NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 327 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTAGGAATAAGGATGTCATGG 0.428 77 92 --- --- --- --- PASS SNTG2 54221 broad.mit.edu 37 2 1263159 1263159 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:1263159G>T uc002qwq.2 + 13 1151 c.1023G>T c.(1021-1023)TGG>TGT p.W341C SNTG2_uc010ewi.2_Missense_Mutation_p.W214C NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 341 PH. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CATTCGATTGGGTGCGAGCAG 0.393 5 72 --- --- --- --- PASS TTC15 51112 broad.mit.edu 37 2 3392340 3392340 + Missense_Mutation SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:3392340A>G uc002qxm.1 + 2 1152 c.946A>G c.(946-948)ACG>GCG p.T316A TTC15_uc002qxn.1_Missense_Mutation_p.T316A|TTC15_uc010ewm.1_Missense_Mutation_p.T316A|TTC15_uc002qxl.1_Missense_Mutation_p.T316A NM_016030 NP_057114 Q8WVT3 TTC15_HUMAN tetratricopeptide repeat domain 15 316 binding ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.214) OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149) CGGCGAGGCTACGCGTGGAGT 0.662 3 4 --- --- --- --- PASS NBAS 51594 broad.mit.edu 37 2 15378795 15378795 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:15378795G>A uc002rcc.1 - 45 5766 c.5740C>T c.(5740-5742)CGT>TGT p.R1914C NBAS_uc002rcb.1_5'UTR|NBAS_uc010exl.1_Missense_Mutation_p.R986C|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1914 ovary(2)|liver(1)|skin(1) 4 ATCTCTTTACGGGCTTCCACA 0.368 7 28 --- --- --- --- PASS SMC6 79677 broad.mit.edu 37 2 17896303 17896303 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:17896303G>A uc002rco.2 - 16 1851 c.1555C>T c.(1555-1557)CTT>TTT p.L519F SMC6_uc010exo.2_Missense_Mutation_p.L519F|SMC6_uc002rcn.2_Missense_Mutation_p.L519F|SMC6_uc002rcp.1_Missense_Mutation_p.L545F|SMC6_uc002rcq.2_Missense_Mutation_p.L545F NM_001142286 NP_001135758 Q96SB8 SMC6_HUMAN SMC6 protein 519 Flexible hinge. DNA recombination|DNA repair chromosome|nucleus ATP binding breast(4)|upper_aerodigestive_tract(1)|kidney(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GCCAAAGCAAGTTCTGGGTCC 0.393 67 55 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21227276 21227276 + Silent SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:21227276G>A uc002red.2 - 28 12080 c.11952C>T c.(11950-11952)ACC>ACT p.T3984T NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3984 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GATGGAGATCGGTGAACGCTG 0.512 10 62 --- --- --- --- PASS RAB10 10890 broad.mit.edu 37 2 26257592 26257592 + Missense_Mutation SNP A T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:26257592A>T uc002rgv.2 + 1 864 c.115A>T c.(115-117)ATT>TTT p.I39F NM_016131 NP_057215 P61026 RAB10_HUMAN ras-related GTP-binding protein RAB10 39 Effector region (By similarity). protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|protein binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TACTACCTTTATTTCCACCAT 0.493 18 97 --- --- --- --- PASS SLC30A3 7781 broad.mit.edu 37 2 27481650 27481650 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:27481650C>A uc002rjk.2 - 2 434 c.248G>T c.(247-249)TGC>TTC p.C83F SLC30A3_uc002rjj.2_5'Flank|SLC30A3_uc010ylh.1_Missense_Mutation_p.C78F NM_003459 NP_003450 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), 83 Helical; (Potential). regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAAGACAAAGCAAACGGCACA 0.612 32 33 --- --- --- --- PASS FAM179A 165186 broad.mit.edu 37 2 29259412 29259412 + Silent SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:29259412T>C uc010ezl.2 + 18 2775 c.2424T>C c.(2422-2424)TTT>TTC p.F808F FAM179A_uc010ymm.1_Silent_p.F753F|FAM179A_uc002rmr.3_Silent_p.F335F|FAM179A_uc002rms.1_Silent_p.F106F NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN hypothetical protein LOC165186 808 binding ovary(3)|skin(1) 4 AATAGGTCTTTGATGCTTTCA 0.552 30 21 --- --- --- --- PASS C2orf71 388939 broad.mit.edu 37 2 29296932 29296932 + Silent SNP T G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:29296932T>G uc002rmt.1 - 1 196 c.196A>C c.(196-198)AGG>CGG p.R66R NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 66 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 GTTTGGTTCCTCCTGGGACTT 0.527 18 32 --- --- --- --- PASS TTC7A 57217 broad.mit.edu 37 2 47273469 47273469 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:47273469G>T uc002rvo.2 + 16 2186 c.1818G>T c.(1816-1818)AAG>AAT p.K606N TTC7A_uc002rvm.2_Missense_Mutation_p.K572N|TTC7A_uc002rvn.1_Intron|TTC7A_uc010fbb.2_Missense_Mutation_p.K606N|TTC7A_uc010fbc.2_Missense_Mutation_p.K252N|TTC7A_uc002rvp.2_Missense_Mutation_p.K487N|TTC7A_uc002rvq.2_Missense_Mutation_p.K346N|TTC7A_uc002rvr.2_Missense_Mutation_p.K55N NM_020458 NP_065191 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 606 binding breast(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) TGTTCACCAAGGTGAAGCTGG 0.632 4 27 --- --- --- --- PASS PSME4 23198 broad.mit.edu 37 2 54175569 54175569 + Silent SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:54175569A>G uc002rxp.2 - 3 545 c.489T>C c.(487-489)AAT>AAC p.N163N PSME4_uc010yop.1_Silent_p.N49N|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 163 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TAGGAAACCAATTTAATCCTA 0.358 13 84 --- --- --- --- PASS SPTBN1 6711 broad.mit.edu 37 2 54882236 54882236 + Missense_Mutation SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:54882236A>G uc002rxu.2 + 28 6101 c.5852A>G c.(5851-5853)AAT>AGT p.N1951S SPTBN1_uc002rxx.2_Missense_Mutation_p.N1938S|SPTBN1_uc002rxy.2_Missense_Mutation_p.N96S|SPTBN1_uc010you.1_5'Flank NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 1951 Spectrin 16.|Interaction with ANK2. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) CTCTTAATGAATAATCATCAA 0.373 16 15 --- --- --- --- PASS AHSA2 130872 broad.mit.edu 37 2 61413610 61413610 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:61413610G>T uc002sbc.1 + 5 1808 c.222G>T c.(220-222)TGG>TGT p.W74C AHSA2_uc002sbb.1_RNA NM_152392 NP_689605 Q719I0 AHSA2_HUMAN AHA1, activator of heat shock 90kDa protein 236 response to stress cytoplasm ATPase activator activity|chaperone binding breast(1) 1 Epithelial(17;0.0994) TCATGAAATGGAGATGTGGGA 0.358 5 66 --- --- --- --- PASS GMCL1 64395 broad.mit.edu 37 2 70082087 70082087 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:70082087C>A uc002sfu.2 + 9 1274 c.1067C>A c.(1066-1068)CCT>CAT p.P356H NM_178439 NP_848526 Q96IK5 GMCL1_HUMAN germ cell-less 356 cell differentiation|multicellular organismal development|spermatogenesis nuclear matrix ovary(3) 3 GCTGTAGTACCTTCAGGTAAG 0.279 6 63 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80136767 80136767 + Silent SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:80136767G>A uc010ysh.1 + 6 905 c.900G>A c.(898-900)CGG>CGA p.R300R CTNNA2_uc010yse.1_Silent_p.R300R|CTNNA2_uc010ysf.1_Silent_p.R300R|CTNNA2_uc010ysg.1_Silent_p.R300R NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 300 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 CCAGGTTCCGGCCGTCCCTGG 0.597 6 39 --- --- --- --- PASS KDM3A 55818 broad.mit.edu 37 2 86683959 86683959 + Missense_Mutation SNP T A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:86683959T>A uc002sri.3 + 7 1040 c.713T>A c.(712-714)CTG>CAG p.L238Q KDM3A_uc010ytj.1_Missense_Mutation_p.L238Q|KDM3A_uc010ytk.1_Missense_Mutation_p.L186Q NM_018433 NP_060903 Q9Y4C1 KDM3A_HUMAN jumonji domain containing 1A 238 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 5 GATCCGTCACTGATTCATGTT 0.343 17 16 --- --- --- --- PASS RPIA 22934 broad.mit.edu 37 2 89028822 89028822 + Silent SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:89028822C>A uc002ste.2 + 4 470 c.429C>A c.(427-429)GGC>GGA p.G143G NM_144563 NP_653164 P49247 RPIA_HUMAN ribose 5-phosphate isomerase A 143 pentose-phosphate shunt, non-oxidative branch cytosol ribose-5-phosphate isomerase activity p.G143D(1) ovary(1) 1 Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287) TGCAGTATGGCTTGACCCTCA 0.498 4 23 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89399590 89399590 + RNA SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:89399590C>A uc010ytr.1 - 46 c.4855G>T uc002stl.2_Intron Parts of antibodies, mostly variable regions. GACTCTGTCTCCTACAGATGC 0.463 84 68 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89399591 89399591 + RNA SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:89399591C>T uc010ytr.1 - 46 c.4854G>A uc002stl.2_Intron Parts of antibodies, mostly variable regions. ACTCTGTCTCCTACAGATGCA 0.463 84 68 --- --- --- --- PASS ADRA2B 151 broad.mit.edu 37 2 96781011 96781011 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:96781011G>A uc002svi.2 - 1 878 c.878C>T c.(877-879)CCA>CTA p.P293L NM_000682 NP_000673 P18089 ADA2B_HUMAN alpha-2B-adrenergic receptor 293 Cytoplasmic (By similarity). activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding ovary(2)|lung(1) 3 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) TTCATCCTCTGGAGATGCCCC 0.557 4 8 --- --- --- --- PASS SNRNP200 23020 broad.mit.edu 37 2 96952549 96952549 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:96952549G>T uc002svu.2 - 28 3792 c.3706C>A c.(3706-3708)CAT>AAT p.H1236N SNRNP200_uc002svt.2_5'Flank|SNRNP200_uc010yuj.1_5'Flank|SNRNP200_uc002svv.1_5'Flank|SNRNP200_uc002svw.1_Missense_Mutation_p.H308N NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 1236 SEC63 1. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 AAATACTCATGGTGCAGAATC 0.522 5 81 --- --- --- --- PASS CNNM3 26505 broad.mit.edu 37 2 97492658 97492658 + Missense_Mutation SNP T G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:97492658T>G uc002swy.2 + 3 1482 c.1458T>G c.(1456-1458)GAT>GAG p.D486E CNNM3_uc002swz.2_Missense_Mutation_p.D438E NM_017623 NP_060093 Q8NE01 CNNM3_HUMAN cyclin M3 isoform 1 486 ion transport integral to membrane|plasma membrane protein binding ovary(1) 1 TGTCTGATGATGAATATAAAG 0.562 9 58 --- --- --- --- PASS CHST10 9486 broad.mit.edu 37 2 101010038 101010038 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:101010038G>A uc002tam.2 - 7 1099 c.740C>T c.(739-741)CCG>CTG p.P247L NM_004854 NP_004845 O43529 CHSTA_HUMAN HNK-1 sulfotransferase 247 Lumenal (Potential). carbohydrate biosynthetic process|cell adhesion Golgi membrane|integral to membrane|membrane fraction ovary(1) 1 TCTGTGGTTCGGATCGCCGAG 0.512 19 137 --- --- --- --- PASS LIMS1 3987 broad.mit.edu 37 2 109300362 109300362 + Missense_Mutation SNP C G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:109300362C>G uc002teg.2 + 10 1004 c.885C>G c.(883-885)GAC>GAG p.D295E LIMS1_uc002tef.2_Missense_Mutation_p.D307E|LIMS1_uc002teh.2_Missense_Mutation_p.D295E|LIMS1_uc002tei.2_Missense_Mutation_p.D295E|LIMS1_uc002tej.2_Missense_Mutation_p.D332E|LIMS1_uc002tek.3_Missense_Mutation_p.D357E|uc002tel.2_5'Flank NM_004987 NP_004978 P48059 LIMS1_HUMAN LIM and senescent cell antigen-like domains 1 295 LIM zinc-binding 5. cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent cytosol|focal adhesion|perinuclear region of cytoplasm protein binding|zinc ion binding 0 TGGAGTTTGACATGAAGCCAG 0.313 7 34 --- --- --- --- PASS TUBA3E 112714 broad.mit.edu 37 2 130953819 130953819 + Silent SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:130953819A>G uc002tqv.2 - 2 230 c.129T>C c.(127-129)GGT>GGC p.G43G NM_207312 NP_997195 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 43 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 Colorectal(110;0.1) CGTCCCCGCCACCAATGGTTT 0.562 13 72 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141771263 141771263 + Nonsense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:141771263C>A uc002tvj.1 - 14 3214 c.2242G>T c.(2242-2244)GGA>TGA p.G748* LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 748 Extracellular (Potential).|LDL-receptor class B 8. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACATAATTTCCATGATGCGAC 0.383 TSP Lung(27;0.18) 5 61 --- --- --- --- PASS UPP2 151531 broad.mit.edu 37 2 158974404 158974404 + Silent SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:158974404G>C uc002tzp.2 + 4 602 c.408G>C c.(406-408)CGG>CGC p.R136R UPP2_uc002tzo.2_Silent_p.R193R NM_173355 NP_775491 O95045 UPP2_HUMAN uridine phosphorylase 2 isoform a 136 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity 0 ACCATGCACGGTGCTGCGATG 0.428 15 105 --- --- --- --- PASS FAP 2191 broad.mit.edu 37 2 163082006 163082006 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:163082006C>A uc002ucd.2 - 4 480 c.272G>T c.(271-273)AGT>ATT p.S91I FAP_uc010zct.1_Missense_Mutation_p.S91I|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Missense_Mutation_p.S58I NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 91 Extracellular (Potential). endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity ovary(3) 3 GGTTCTATTACTCAAAATGGT 0.343 8 37 --- --- --- --- PASS GCA 25801 broad.mit.edu 37 2 163212953 163212953 + Missense_Mutation SNP A T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:163212953A>T uc002ucg.2 + 4 444 c.268A>T c.(268-270)AGT>TGT p.S90C GCA_uc010zcu.1_Missense_Mutation_p.S71C NM_012198 NP_036330 P28676 GRAN_HUMAN grancalcin, EF-hand calcium binding protein 90 EF-hand 2. cellular membrane fusion cytoplasm|plasma membrane calcium ion binding|protein homodimerization activity 0 TACAGCCTTCAGTTTGGAAAC 0.284 36 14 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166892733 166892733 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:166892733C>A uc010zcz.1 - 16 3239 c.3221G>T c.(3220-3222)GGT>GTT p.G1074V SCN1A_uc002udo.3_Missense_Mutation_p.G954V|SCN1A_uc010fpk.2_Missense_Mutation_p.G926V NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1085 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AGTTCCTATACCACTTGTAGT 0.353 36 16 --- --- --- --- PASS NFE2L2 4780 broad.mit.edu 37 2 178098945 178098945 + Missense_Mutation SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:178098945G>C uc002ulh.3 - 2 655 c.100C>G c.(100-102)CGA>GGA p.R34G NFE2L2_uc002ulg.3_Missense_Mutation_p.R18G|NFE2L2_uc010zfa.1_Missense_Mutation_p.R18G|NFE2L2_uc002uli.3_Missense_Mutation_p.R18G|NFE2L2_uc010fra.2_Missense_Mutation_p.R18G|NFE2L2_uc010frb.2_Missense_Mutation_p.R18G NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 34 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) AATACTTCTCGACTTACTCCA 0.368 Mis NSCLC|HNSCC HNSCC(56;0.16) 23 15 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179592919 179592919 + Missense_Mutation SNP T G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:179592919T>G uc010zfg.1 - 64 16124 c.15900A>C c.(15898-15900)GAA>GAC p.E5300D TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1961D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6227 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TATCTTCTAATTCCAGATTAT 0.378 11 29 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179610662 179610662 + Missense_Mutation SNP T G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:179610662T>G uc002unb.2 - 46 16689 c.16465A>C c.(16465-16467)AGT>CGT p.S5489R TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCATTAAACTGCTTAAAGTC 0.403 30 69 --- --- --- --- PASS ZC3H15 55854 broad.mit.edu 37 2 187368929 187368929 + Silent SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:187368929A>G uc002upo.2 + 6 930 c.705A>G c.(703-705)CTA>CTG p.L235L NM_018471 NP_060941 Q8WU90 ZC3HF_HUMAN erythropoietin 4 immediate early response 235 Potential. cytoplasm|nucleolus|plasma membrane nucleic acid binding|zinc ion binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233) TAGAAGATCTAATTGAGAGAG 0.333 35 24 --- --- --- --- PASS HSPD1 3329 broad.mit.edu 37 2 198358104 198358104 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:198358104C>A uc002uui.2 - 7 950 c.813G>T c.(811-813)TTG>TTT p.L271F HSPD1_uc002uuj.2_Missense_Mutation_p.L269F|HSPD1_uc010zgx.1_Missense_Mutation_p.L262F|HSPD1_uc010fsm.2_Missense_Mutation_p.L82F|HSPD1_uc002uuk.2_Missense_Mutation_p.L271F NM_002156 NP_002147 P10809 CH60_HUMAN chaperonin 271 'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding 0 Epithelial(96;0.225) CGATTATGACCAAAGGCTTAC 0.388 5 96 --- --- --- --- PASS NDUFS1 4719 broad.mit.edu 37 2 207011634 207011634 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:207011634C>T uc002vbe.2 - 8 857 c.730G>A c.(730-732)GAA>AAA p.E244K NDUFS1_uc010ziq.1_Missense_Mutation_p.E258K|NDUFS1_uc010zir.1_Missense_Mutation_p.E208K|NDUFS1_uc010zis.1_Missense_Mutation_p.E187K|NDUFS1_uc010zit.1_Missense_Mutation_p.E133K|NDUFS1_uc010ziu.1_Missense_Mutation_p.E128K NM_005006 NP_004997 P28331 NDUS1_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 1, 244 apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding ovary(1) 1 NADH(DB00157) TACCTTGTTTCCCAAGGCCGG 0.363 10 59 --- --- --- --- PASS CCDC108 255101 broad.mit.edu 37 2 219895545 219895545 + Nonsense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:219895545G>A uc002vjl.1 - 9 1111 c.1027C>T c.(1027-1029)CAG>TAG p.Q343* CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_Nonsense_Mutation_p.Q332*|CCDC108_uc010zkq.1_Nonsense_Mutation_p.Q278* NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 343 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACCAGCAGCTGGGCGCACTTG 0.637 14 20 --- --- --- --- PASS PAX3 5077 broad.mit.edu 37 2 223085966 223085966 + Silent SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:223085966A>G uc010fwo.2 - 6 1299 c.933T>C c.(931-933)TCT>TCC p.S311S PAX3_uc002vmt.1_Silent_p.S311S|PAX3_uc002vmy.1_Silent_p.S310S|PAX3_uc002vmv.1_Silent_p.S311S|PAX3_uc002vmw.1_Silent_p.S311S|PAX3_uc002vmx.1_Silent_p.S311S NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 311 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) TGGGCTGGTAAGAGGTCTCCG 0.507 T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 59 144 --- --- --- --- PASS DOCK10 55619 broad.mit.edu 37 2 225638050 225638050 + Missense_Mutation SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:225638050G>C uc010fwz.1 - 53 6267 c.6028C>G c.(6028-6030)CCC>GCC p.P2010A DOCK10_uc002vob.2_Missense_Mutation_p.P2004A|DOCK10_uc002voa.2_Missense_Mutation_p.P666A NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 2010 DHR-2. GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TTCACGTAGGGGAACAGGTGA 0.438 28 22 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228846483 228846483 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr2:228846483G>T uc002vpq.2 - 12 5100 c.5053C>A c.(5053-5055)CAG>AAG p.Q1685K SPHKAP_uc002vpp.2_Missense_Mutation_p.Q1656K|SPHKAP_uc010zlx.1_3'UTR NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1685 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) CCATCCTTCTGCTCCTCATGC 0.448 15 27 --- --- --- --- PASS SYN2 6854 broad.mit.edu 37 3 12187261 12187261 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr3:12187261G>T uc003bwm.2 + 8 774 c.610G>T c.(610-612)GGT>TGT p.G204C SYN2_uc003bwl.1_Missense_Mutation_p.G204C NM_133625 NP_598328 Q92777 SYN2_HUMAN synapsin II isoform IIa 204 neurotransmitter secretion synaptic vesicle ATP binding|ligase activity ovary(1)|central_nervous_system(1) 2 CCTGATCATTGGTATGCAGTA 0.557 6 62 --- --- --- --- PASS AZI2 64343 broad.mit.edu 37 3 28379458 28379458 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr3:28379458G>T uc003ceb.2 - 4 941 c.409C>A c.(409-411)CAG>AAG p.Q137K AZI2_uc003cec.2_Missense_Mutation_p.Q25K|AZI2_uc003ced.2_Missense_Mutation_p.Q137K|AZI2_uc003cee.3_Missense_Mutation_p.Q137K|AZI2_uc003ceg.2_Missense_Mutation_p.Q137K|AZI2_uc011axd.1_Missense_Mutation_p.Q137K|AZI2_uc003cef.2_Missense_Mutation_p.Q137K NM_022461 NP_071906 Q9H6S1 AZI2_HUMAN 5-azacytidine induced 2 isoform a 137 Potential. mitochondrion|plasma membrane ovary(2) 2 GTCCTCAGCTGGAGGAGTTCT 0.333 4 21 --- --- --- --- PASS OSBPL10 114884 broad.mit.edu 37 3 31725157 31725157 + Silent SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr3:31725157G>C uc003cev.2 - 9 2076 c.1695C>G c.(1693-1695)GGC>GGG p.G565G OSBPL10_uc003ceu.1_Silent_p.G322G|OSBPL10_uc011axf.1_Silent_p.G501G NM_017784 NP_060254 Q9BXB5 OSB10_HUMAN oxysterol-binding protein-like protein 10 565 lipid transport lipid binding skin(1) 1 STAD - Stomach adenocarcinoma(1;0.00406) CCACGGACATGCCCATGAACT 0.488 44 12 --- --- --- --- PASS TRANK1 9881 broad.mit.edu 37 3 36872547 36872547 + Nonsense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr3:36872547C>A uc003cgj.2 - 12 7047 c.6745G>T c.(6745-6747)GAG>TAG p.E2249* NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 2799 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 TCCACCTTCTCGTGGAAAAAT 0.532 4 101 --- --- --- --- PASS OXSR1 9943 broad.mit.edu 37 3 38263138 38263138 + Missense_Mutation SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr3:38263138T>C uc003chy.2 + 6 902 c.560T>C c.(559-561)GTT>GCT p.V187A OXSR1_uc010hhb.2_Missense_Mutation_p.V121A|OXSR1_uc010hha.1_Missense_Mutation_p.V119A NM_005109 NP_005100 O95747 OXSR1_HUMAN oxidative-stress responsive 1 187 Protein kinase. intracellular protein kinase cascade|response to oxidative stress ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) AAGACCTTTGTTGGCACCCCT 0.383 16 63 --- --- --- --- PASS SCN11A 11280 broad.mit.edu 37 3 38888793 38888793 + Missense_Mutation SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr3:38888793T>C uc011ays.1 - 26 4967 c.4768A>G c.(4768-4770)ATC>GTC p.I1590V NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1590 IV.|Helical; Name=S6 of repeat IV; (By similarity). response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AGAAAGGAGATGATAATGTAA 0.433 11 36 --- --- --- --- PASS MIR135A1 406925 broad.mit.edu 37 3 52328291 52328291 + RNA SNP T A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr3:52328291T>A hsa-mir-135a-1|MI0000452 - c.34T>A GLYCTK_uc003ddm.2_RNA|GLYCTK_uc003ddo.2_3'UTR|GLYCTK_uc003ddn.2_RNA|GLYCTK_uc003ddr.2_3'UTR|uc010hmf.2_RNA 0 TAGAATCACATAGGAATAAAA 0.597 7 44 --- --- --- --- PASS KBTBD8 84541 broad.mit.edu 37 3 67054263 67054263 + Missense_Mutation SNP T G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr3:67054263T>G uc003dmy.2 + 3 925 c.872T>G c.(871-873)TTT>TGT p.F291C KBTBD8_uc011bfv.1_Intron NM_032505 NP_115894 Q8NFY9 KBTB8_HUMAN T-cell activation kelch repeat protein 291 ovary(2)|large_intestine(1)|breast(1) 4 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) ATCATATGTTTTGATGCTGCC 0.443 17 54 --- --- --- --- PASS ROBO1 6091 broad.mit.edu 37 3 79174687 79174687 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr3:79174687G>T uc003dqe.2 - 3 299 c.91C>A c.(91-93)CCT>ACT p.P31T NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 31 Extracellular (Potential). activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) ACATCTTCAGGGTCTGTCGGA 0.502 10 7 --- --- --- --- PASS ZNF654 55279 broad.mit.edu 37 3 88190171 88190171 + Missense_Mutation SNP C G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr3:88190171C>G uc003dqv.2 + 1 1910 c.1711C>G c.(1711-1713)CTC>GTC p.L571V CGGBP1_uc003dqu.2_5'UTR NM_018293 NP_060763 Q8IZM8 ZN654_HUMAN zinc finger protein 654 571 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(201;0.0283) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) ATGTCAGACACTCTTTGGATT 0.348 8 26 --- --- --- --- PASS KIAA1524 57650 broad.mit.edu 37 3 108300321 108300321 + Nonsense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr3:108300321C>A uc003dxb.3 - 5 759 c.490G>T c.(490-492)GGA>TGA p.G164* KIAA1524_uc003dxc.1_Nonsense_Mutation_p.G5*|KIAA1524_uc010hpw.1_Nonsense_Mutation_p.G5* NM_020890 NP_065941 Q8TCG1 CIP2A_HUMAN p90 autoantigen 164 cytoplasm|integral to membrane protein binding ovary(2)|central_nervous_system(1) 3 GCCAATAATCCTAGACAAGGC 0.289 16 23 --- --- --- --- PASS POPDC2 64091 broad.mit.edu 37 3 119367422 119367422 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr3:119367422G>A uc003ecx.1 - 3 828 c.694C>T c.(694-696)CTC>TTC p.L232F POPDC2_uc010hqw.1_Missense_Mutation_p.L232F|POPDC2_uc003ecy.1_Missense_Mutation_p.L50F NM_022135 NP_071418 Q9HBU9 POPD2_HUMAN popeye protein 2 232 integral to membrane central_nervous_system(1) 1 GBM - Glioblastoma multiforme(114;0.242) GCCGAGAAGAGGCAGGAGATG 0.507 8 37 --- --- --- --- PASS GOLGB1 2804 broad.mit.edu 37 3 121417220 121417220 + Missense_Mutation SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr3:121417220T>C uc003eei.3 - 13 2261 c.2135A>G c.(2134-2136)GAT>GGT p.D712G GOLGB1_uc010hrc.2_Missense_Mutation_p.D717G|GOLGB1_uc003eej.3_Missense_Mutation_p.D678G|GOLGB1_uc011bjm.1_Missense_Mutation_p.D598G|GOLGB1_uc010hrd.1_Missense_Mutation_p.D676G NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 712 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) AGCTTTCTCATCTAAATTTTT 0.363 18 25 --- --- --- --- PASS MYLK 4638 broad.mit.edu 37 3 123382998 123382998 + Silent SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr3:123382998C>T uc003ego.2 - 23 4221 c.3939G>A c.(3937-3939)GAG>GAA p.E1313E MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Silent_p.E113E|MYLK_uc011bjw.1_Silent_p.E1313E|MYLK_uc003egp.2_Silent_p.E1244E|MYLK_uc003egq.2_Silent_p.E1313E|MYLK_uc003egr.2_Silent_p.E1244E|MYLK_uc003egs.2_Silent_p.E1137E NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 1313 Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CCAGCTTGTTCTCCACCAGCA 0.632 12 60 --- --- --- --- PASS EEFSEC 60678 broad.mit.edu 37 3 128060451 128060451 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr3:128060451G>A uc003eki.2 + 5 1200 c.1162G>A c.(1162-1164)GTG>ATG p.V388M EEFSEC_uc003ekj.2_Missense_Mutation_p.V333M NM_021937 NP_068756 P57772 SELB_HUMAN eukaryotic elongation factor, 388 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity ovary(1) 1 GACACCAGCAGTGACAGACAA 0.537 9 18 --- --- --- --- PASS CLSTN2 64084 broad.mit.edu 37 3 140281693 140281693 + Silent SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr3:140281693C>T uc003etn.2 + 14 2443 c.2253C>T c.(2251-2253)CAC>CAT p.H751H NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 751 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 TGCTACATCACATCCGCTACC 0.552 HNSCC(16;0.037) 5 21 --- --- --- --- PASS PAQR9 344838 broad.mit.edu 37 3 142681705 142681705 + Silent SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr3:142681705G>A uc003evg.2 - 1 474 c.474C>T c.(472-474)TAC>TAT p.Y158Y PAQR9_uc003evf.1_5'Flank NM_198504 NP_940906 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 158 Cytoplasmic (Potential). integral to membrane receptor activity 0 TGATGGACGCGTAGTCCAGGT 0.612 6 14 --- --- --- --- PASS CPA3 1359 broad.mit.edu 37 3 148614379 148614379 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr3:148614379G>T uc003ewm.2 + 11 1191 c.1139G>T c.(1138-1140)CGA>CTA p.R380L NM_001870 NP_001861 P15088 CBPA3_HUMAN carboxypeptidase A3 precursor 380 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding breast(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TTTGAGCTCCGAGATAAAGGC 0.418 4 76 --- --- --- --- PASS GFM1 85476 broad.mit.edu 37 3 158363992 158363992 + Silent SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr3:158363992C>A uc003fce.2 + 3 380 c.273C>A c.(271-273)TCC>TCA p.S91S GFM1_uc003fcd.2_Silent_p.S91S|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Silent_p.S3S NM_024996 NP_079272 Q96RP9 EFGM_HUMAN G elongation factor, mitochondrial 1 precursor 91 mitochondrial translational elongation mitochondrion GTP binding|GTPase activity|translation elongation factor activity ovary(3)|central_nervous_system(1) 4 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) TCATGGATTCCATGGAACTAG 0.413 5 76 --- --- --- --- PASS SERPINI2 5276 broad.mit.edu 37 3 167184891 167184891 + Missense_Mutation SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr3:167184891T>C uc003fer.1 - 2 488 c.430A>G c.(430-432)AAG>GAG p.K144E SERPINI2_uc003fes.1_Missense_Mutation_p.K154E|SERPINI2_uc003fet.1_Missense_Mutation_p.K144E NM_006217 NP_006208 O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), 144 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(2)|urinary_tract(1) 3 GCACAAGCCTTTGCATCTTGA 0.358 9 46 --- --- --- --- PASS DCUN1D1 54165 broad.mit.edu 37 3 182679132 182679132 + Missense_Mutation SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr3:182679132T>C uc003fld.1 - 4 451 c.402A>G c.(400-402)ATA>ATG p.I134M DCUN1D1_uc011bqn.1_Translation_Start_Site NM_020640 NP_065691 Q96GG9 DCNL1_HUMAN RP42 homolog 134 DCUN1. I -> T (in Ref. 2; AAL78673). ubiquitin ligase complex protein binding ovary(1) 1 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) TTAGTTTTTCTATGCTGTCAC 0.308 105 350 --- --- --- --- PASS EPHB3 2049 broad.mit.edu 37 3 184298901 184298901 + Missense_Mutation SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr3:184298901A>G uc003foz.2 + 14 3117 c.2680A>G c.(2680-2682)AAG>GAG p.K894E NM_004443 NP_004434 P54753 EPHB3_HUMAN ephrin receptor EphB3 precursor 894 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1) 11 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) TACCCTGGACAAGCTCATCCG 0.592 43 117 --- --- --- --- PASS VPS8 23355 broad.mit.edu 37 3 184612617 184612617 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr3:184612617G>T uc003fpb.1 + 22 2073 c.1902G>T c.(1900-1902)ATG>ATT p.M634I VPS8_uc010hyd.1_Intron|VPS8_uc010hye.1_Missense_Mutation_p.M63I NM_015303 NP_056118 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog isoform b 636 zinc ion binding ovary(1) 1 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) CCCAAGTAATGAAAGACTTGA 0.358 13 32 --- --- --- --- PASS ZDHHC19 131540 broad.mit.edu 37 3 195937539 195937539 + Silent SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr3:195937539G>T uc003fwc.2 - 2 330 c.216C>A c.(214-216)ACC>ACA p.T72T ZDHHC19_uc010hzz.2_RNA|ZDHHC19_uc010iaa.2_Intron|ZDHHC19_uc010iab.2_RNA NM_001039617 NP_001034706 Q8WVZ1 ZDH19_HUMAN zinc finger, DHHC domain containing 19 72 Helical; (Potential). integral to membrane acyltransferase activity|zinc ion binding ovary(3) 3 all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0022) GACTGAAGAAGGTAAGGACAA 0.557 5 47 --- --- --- --- PASS SLC34A2 10568 broad.mit.edu 37 4 25677955 25677955 + Missense_Mutation SNP C T T rs115500754 by1000genomes TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr4:25677955C>T uc003grr.2 + 13 1738 c.1657C>T c.(1657-1659)CGG>TGG p.R553W SLC34A2_uc003grs.2_Missense_Mutation_p.R552W|SLC34A2_uc010iev.2_Missense_Mutation_p.R552W NM_006424 NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (sodium phosphate), 553 Helical; Name=M8; (Potential). cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity skin(3)|ovary(1)|kidney(1) 5 Breast(46;0.0503) GGCCGGCTGGCGGGTGCTGGT 0.597 13 38 --- --- --- --- PASS ARAP2 116984 broad.mit.edu 37 4 36093640 36093640 + Missense_Mutation SNP G A A rs143499964 TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr4:36093640G>A uc003gsq.1 - 28 4626 c.4288C>T c.(4288-4290)CGG>TGG p.R1430W NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1430 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 AGTGTACTCCGGTCTGTAAAG 0.308 14 37 --- --- --- --- PASS WDR19 57728 broad.mit.edu 37 4 39241945 39241945 + Silent SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr4:39241945T>C uc003gtv.2 + 21 2566 c.2412T>C c.(2410-2412)GGT>GGC p.G804G WDR19_uc011byi.1_Silent_p.G644G|WDR19_uc003gtw.1_Silent_p.G401G NM_025132 NP_079408 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 804 TPR 2. cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 GAATAACAGGTGATAATAAGG 0.249 5 2 --- --- --- --- PASS PDS5A 23244 broad.mit.edu 37 4 39878748 39878748 + Nonsense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr4:39878748G>T uc003guv.3 - 19 2558 c.2018C>A c.(2017-2019)TCG>TAG p.S673* PDS5A_uc010ifo.2_Nonsense_Mutation_p.S633* NM_001100399 NP_001093869 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog 673 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding 0 AGAGTGGAACGAGGTAGGATG 0.373 5 191 --- --- --- --- PASS RHOH 399 broad.mit.edu 37 4 40245213 40245213 + Silent SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr4:40245213G>A uc003guz.2 + 3 931 c.207G>A c.(205-207)CGG>CGA p.R69R NM_004310 NP_004301 Q15669 RHOH_HUMAN ras homolog gene family, member H precursor 69 negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding ovary(1)|lung(1) 2 GAAGCATCCGGCCCCTGTCCT 0.542 8 46 --- --- --- --- PASS GRXCR1 389207 broad.mit.edu 37 4 42965024 42965024 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr4:42965024G>A uc003gwt.2 + 2 500 c.500G>A c.(499-501)CGC>CAC p.R167H NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 167 Glutaredoxin. cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity ovary(1) 1 CAAAACCATCGCGTAAAATTT 0.428 68 233 --- --- --- --- PASS GABRA2 2555 broad.mit.edu 37 4 46307592 46307592 + Silent SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr4:46307592G>T uc003gxc.3 - 6 1369 c.696C>A c.(694-696)TCC>TCA p.S232S GABRA2_uc010igc.2_Silent_p.S232S|GABRA2_uc011bzc.1_Silent_p.S177S|GABRA2_uc003gxe.2_Silent_p.S232S NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 232 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AACCTGTACTGGATTTAATTG 0.373 5 94 --- --- --- --- PASS LPHN3 23284 broad.mit.edu 37 4 62542559 62542559 + Silent SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr4:62542559C>A uc010ihh.2 + 3 458 c.285C>A c.(283-285)ACC>ACA p.T95T LPHN3_uc003hcq.3_Silent_p.T95T|LPHN3_uc010ihg.1_Silent_p.T163T NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 95 SUEL-type lectin.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 ATAACAGAACCCAGTGTGCAG 0.373 54 105 --- --- --- --- PASS TMPRSS11B 132724 broad.mit.edu 37 4 69100335 69100335 + Missense_Mutation SNP A T T rs138592272 TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr4:69100335A>T uc003hdw.3 - 5 451 c.315T>A c.(313-315)AAT>AAA p.N105K NM_182502 NP_872308 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 105 SEA.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 AACCATTGGCATTAGGCCTAG 0.333 26 23 --- --- --- --- PASS SDAD1 55153 broad.mit.edu 37 4 76911921 76911921 + Missense_Mutation SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr4:76911921G>C uc003hje.3 - 1 193 c.74C>G c.(73-75)CCG>CGG p.P25R SDAD1_uc003hjf.3_5'UTR|SDAD1_uc011cbr.1_Missense_Mutation_p.P25R NM_018115 NP_060585 Q9NVU7 SDA1_HUMAN SDA1 domain containing 1 25 protein transport|ribosomal large subunit biogenesis nucleolus protein binding ovary(1) 1 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GATGTAGGCCGGCGGGTCTCG 0.597 32 42 --- --- --- --- PASS SYNPO2 171024 broad.mit.edu 37 4 119952527 119952527 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr4:119952527C>A uc003icm.3 + 4 2793 c.2597C>A c.(2596-2598)CCA>CAA p.P866Q SYNPO2_uc010ina.2_Missense_Mutation_p.P866Q|SYNPO2_uc010inb.2_Missense_Mutation_p.P866Q|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.P794Q NM_001128933 NP_001122405 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform b 866 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 AATGAGCTTCCAGGAATGAGT 0.527 9 61 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123260427 123260427 + Silent SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr4:123260427C>A uc003ieh.2 + 70 12261 c.12216C>A c.(12214-12216)TCC>TCA p.S4072S KIAA1109_uc003iem.2_Silent_p.S428S|KIAA1109_uc003ien.2_Silent_p.S6S NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 4072 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 AGCTGCCATCCCTGGATTTGG 0.423 5 50 --- --- --- --- PASS LRBA 987 broad.mit.edu 37 4 151749635 151749635 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr4:151749635G>T uc010ipj.2 - 30 5342 c.4868C>A c.(4867-4869)CCT>CAT p.P1623H LRBA_uc003ilt.3_Missense_Mutation_p.P282H|LRBA_uc003ilu.3_Missense_Mutation_p.P1623H NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 1623 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) TGCTGTGTGAGGAGTTACTTC 0.483 6 142 --- --- --- --- PASS NPY1R 4886 broad.mit.edu 37 4 164247530 164247530 + Silent SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr4:164247530C>A uc003iqm.1 - 2 443 c.177G>T c.(175-177)CTG>CTT p.L59L NPY1R_uc011cjj.1_Intron NM_000909 NP_000900 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 59 Helical; Name=1; (Potential). inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding lung(1)|pancreas(1) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TGATCAAGGCCAGGTTTCCAG 0.408 45 34 --- --- --- --- PASS ADAM29 11086 broad.mit.edu 37 4 175897894 175897894 + Missense_Mutation SNP A T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr4:175897894A>T uc003iuc.2 + 5 1888 c.1218A>T c.(1216-1218)GAA>GAT p.E406D ADAM29_uc003iud.2_Missense_Mutation_p.E406D|ADAM29_uc010irr.2_Missense_Mutation_p.E406D|ADAM29_uc011cki.1_Missense_Mutation_p.E406D NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 406 Disintegrin.|Extracellular (Potential). proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GTGTTGTTGAAGAAGGAGAAG 0.413 10 75 --- --- --- --- PASS VEGFC 7424 broad.mit.edu 37 4 177608422 177608422 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr4:177608422G>T uc003ius.1 - 6 1494 c.1064C>A c.(1063-1065)CCT>CAT p.P355H NM_005429 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 355 4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.|4. angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity lung(5) 5 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) ACATTTTCCAGGATTTAGGGG 0.438 5 106 --- --- --- --- PASS C4orf41 60684 broad.mit.edu 37 4 184585192 184585192 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr4:184585192G>T uc003ivx.2 + 2 348 c.172G>T c.(172-174)GGT>TGT p.G58C C4orf41_uc003ivw.2_Missense_Mutation_p.G58C|C4orf41_uc010isc.2_Intron NM_021942 NP_068761 Q7Z392 CD041_HUMAN hypothetical protein LOC60684 isoform a 58 0 all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171) GGTGCTCCCAGGTGACCATGA 0.463 5 41 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13721111 13721111 + Missense_Mutation SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr5:13721111T>C uc003jfd.2 - 71 12319 c.12277A>G c.(12277-12279)AAC>GAC p.N4093D DNAH5_uc003jfc.2_Missense_Mutation_p.N261D NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4093 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AGCCTTACGTTCGCCATGGTC 0.418 Kartagener_syndrome 8 53 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13913947 13913947 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr5:13913947C>T uc003jfd.2 - 11 1483 c.1441G>A c.(1441-1443)GCC>ACC p.A481T DNAH5_uc003jfe.1_RNA NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 481 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) ATTATCTTGGCAAGGCGTCGG 0.368 Kartagener_syndrome 8 56 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19747097 19747097 + Missense_Mutation SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr5:19747097G>C uc003jgc.2 - 3 854 c.477C>G c.(475-477)TTC>TTG p.F159L CDH18_uc003jgd.2_Missense_Mutation_p.F159L|CDH18_uc011cnm.1_Missense_Mutation_p.F159L NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 159 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) GTCCATCTGTGAATTTTGGAG 0.348 9 84 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24488018 24488018 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr5:24488018G>T uc003jgr.1 - 12 2453 c.2121C>A c.(2119-2121)AAC>AAA p.N707K CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 707 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) GGACGTCCGTGTTATCTGGAG 0.483 HNSCC(23;0.051) 11 49 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24488077 24488077 + Silent SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr5:24488077G>T uc003jgr.1 - 12 2394 c.2062C>A c.(2062-2064)CGA>AGA p.R688R CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 688 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) ATAATATCTCGCCGGAGCTTT 0.483 HNSCC(23;0.051) 25 17 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24509858 24509858 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr5:24509858C>T uc003jgr.1 - 7 1405 c.1073G>A c.(1072-1074)CGT>CAT p.R358H CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 358 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) GTAATAAAAACGGGGATCTAC 0.363 HNSCC(23;0.051) 25 24 --- --- --- --- PASS PDZD2 23037 broad.mit.edu 37 5 32074686 32074686 + Missense_Mutation SNP A C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr5:32074686A>C uc003jhl.2 + 18 3862 c.3474A>C c.(3472-3474)AGA>AGC p.R1158S PDZD2_uc003jhm.2_Missense_Mutation_p.R1158S|PDZD2_uc011cnx.1_Missense_Mutation_p.R984S NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 1158 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 TGGACTCGAGAGTCCAGGCCA 0.547 18 10 --- --- --- --- PASS IL7R 3575 broad.mit.edu 37 5 35876119 35876119 + Missense_Mutation SNP T A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr5:35876119T>A uc003jjs.2 + 8 1000 c.911T>A c.(910-912)CTG>CAG p.L304Q IL7R_uc011cop.1_RNA NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 304 Cytoplasmic (Potential). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) GAAAGTTTCCTGGACTGCCAG 0.408 6 60 --- --- --- --- PASS UGT3A2 167127 broad.mit.edu 37 5 36035961 36035961 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr5:36035961G>T uc003jjz.1 - 7 1504 c.1411C>A c.(1411-1413)CTC>ATC p.L471I UGT3A2_uc011cos.1_Missense_Mutation_p.L437I|UGT3A2_uc011cot.1_Missense_Mutation_p.L169I NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 471 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TAGGGCTTGAGGTGCGTCGCG 0.617 4 21 --- --- --- --- PASS LMBRD2 92255 broad.mit.edu 37 5 36122985 36122985 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr5:36122985G>T uc003jkb.1 - 8 1316 c.901C>A c.(901-903)CCA>ACA p.P301T NM_001007527 NP_001007528 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 301 Cytoplasmic (Potential). integral to membrane 0 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTTTCACTTGGATAGATACTA 0.274 4 23 --- --- --- --- PASS C5orf33 133686 broad.mit.edu 37 5 36226629 36226629 + Missense_Mutation SNP T A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr5:36226629T>A uc003jkf.3 - 3 426 c.426A>T c.(424-426)AGA>AGT p.R142S C5orf33_uc010iux.2_5'Flank|C5orf33_uc003jkg.3_5'UTR|C5orf33_uc011cov.1_5'UTR NM_001085411 NP_001078880 Q4G0N4 NAKD1_HUMAN hypothetical protein LOC133686 isoform 1 142 NAD+ kinase activity 0 all_lung(31;5.63e-05) Epithelial(62;0.0254)|all cancers(62;0.0805)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CATCATATTCTCTCCTCTTTA 0.348 61 44 --- --- --- --- PASS NIPBL 25836 broad.mit.edu 37 5 37000926 37000926 + Silent SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr5:37000926G>A uc003jkl.3 + 13 4009 c.3510G>A c.(3508-3510)AGG>AGA p.R1170R NIPBL_uc003jkk.3_Silent_p.R1170R NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 1170 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TAGTTGCTAGGAAAATGAAGA 0.294 34 22 --- --- --- --- PASS FYB 2533 broad.mit.edu 37 5 39202039 39202039 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr5:39202039G>A uc003jls.2 - 1 1091 c.1024C>T c.(1024-1026)CCG>TCG p.P342S FYB_uc003jlt.2_Missense_Mutation_p.P342S|FYB_uc003jlu.2_Missense_Mutation_p.P342S|FYB_uc011cpl.1_Missense_Mutation_p.P352S NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 342 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) TTCTGTTTCGGGGTGGCTGAA 0.532 7 73 --- --- --- --- PASS HTR1A 3350 broad.mit.edu 37 5 63257447 63257447 + Missense_Mutation SNP T A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr5:63257447T>A uc011cqt.1 - 1 100 c.100A>T c.(100-102)AGC>TGC p.S34C NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 34 Extracellular (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) ACTTGGTAGCTGACGGTCACG 0.617 10 29 --- --- --- --- PASS BDP1 55814 broad.mit.edu 37 5 70805959 70805959 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr5:70805959G>A uc003kbp.1 + 17 3303 c.3040G>A c.(3040-3042)GCA>ACA p.A1014T BDP1_uc003kbn.1_Missense_Mutation_p.A1014T|BDP1_uc003kbo.2_Missense_Mutation_p.A1014T NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 1014 4.|9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AGATTTGAACGCAACTGGAAG 0.428 14 72 --- --- --- --- PASS MEF2C 4208 broad.mit.edu 37 5 88119587 88119587 + Missense_Mutation SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr5:88119587G>C uc003kjj.2 - 2 692 c.19C>G c.(19-21)CAG>GAG p.Q7E MEF2C_uc003kji.2_Missense_Mutation_p.Q7E|MEF2C_uc003kjk.2_Missense_Mutation_p.Q7E|MEF2C_uc003kjm.2_Missense_Mutation_p.Q7E|MEF2C_uc003kjl.2_Missense_Mutation_p.Q7E NM_002397 NP_002388 Q06413 MEF2C_HUMAN myocyte enhancer factor 2C isoform 1 7 Lys-rich (basic).|MADS-box. apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(3)|breast(2)|ovary(1)|large_intestine(1) 7 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) CTCGTAATCTGAATCTTTTTT 0.343 HNSCC(66;0.2) 105 44 --- --- --- --- PASS FAM114A2 10827 broad.mit.edu 37 5 153409093 153409093 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr5:153409093C>A uc003lvb.2 - 5 1039 c.451G>T c.(451-453)GCA>TCA p.A151S FAM114A2_uc003lvc.2_Missense_Mutation_p.A151S|FAM114A2_uc003lvd.2_Missense_Mutation_p.A151S|FAM114A2_uc003lve.2_5'UTR|FAM114A2_uc011dda.1_Missense_Mutation_p.A81S NM_018691 NP_061161 Q9NRY5 F1142_HUMAN hypothetical protein LOC10827 151 purine nucleotide binding 0 ACACCAAATGCCCCAGCCACT 0.448 8 10 --- --- --- --- PASS ATP10B 23120 broad.mit.edu 37 5 160097667 160097667 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr5:160097667G>T uc003lym.1 - 7 1325 c.478C>A c.(478-480)CAG>AAG p.Q160K ATP10B_uc003lyp.2_Missense_Mutation_p.Q160K|ATP10B_uc011deg.1_Missense_Mutation_p.Q204K|ATP10B_uc003lyo.2_Missense_Mutation_p.Q132K NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 160 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACATAGGTCTGCTCTTTTCTT 0.458 24 18 --- --- --- --- PASS HIST1H3I 8354 broad.mit.edu 37 6 27840015 27840015 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr6:27840015G>A uc003njy.2 - 1 85 c.79C>T c.(79-81)CGC>TGC p.R27C NM_003533 NP_003524 P68431 H31_HUMAN histone cluster 1, H3i 27 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 GCGCTCTTGCGAGCCGCCTTG 0.667 4 13 --- --- --- --- PASS ZKSCAN3 80317 broad.mit.edu 37 6 28327630 28327630 + Silent SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr6:28327630G>T uc003nle.3 + 2 483 c.267G>T c.(265-267)CTG>CTT p.L89L ZKSCAN3_uc010jrc.2_Silent_p.L89L|ZKSCAN3_uc003nlf.3_Intron NM_024493 NP_077819 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 89 SCAN box. positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 TGGAGCTGCTGGTGCTGGAGC 0.652 5 22 --- --- --- --- PASS WDR46 9277 broad.mit.edu 37 6 33255475 33255475 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr6:33255475C>T uc003ods.2 - 7 688 c.644G>A c.(643-645)CGC>CAC p.R215H WDR46_uc011dra.1_Missense_Mutation_p.R161H|WDR46_uc010juo.1_RNA|PFDN6_uc003odt.1_5'Flank|PFDN6_uc010jup.1_5'Flank NM_005452 NP_005443 O15213 WDR46_HUMAN WD repeat domain 46 isoform 1 215 WD 1. 0 ATGACCTCGGCGCCCTCCAAA 0.602 10 9 --- --- --- --- PASS RGL2 5863 broad.mit.edu 37 6 33262480 33262480 + Silent SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr6:33262480G>A uc003odv.2 - 11 1471 c.1338C>T c.(1336-1338)TCC>TCT p.S446S RGL2_uc003odu.2_Silent_p.S6S|RGL2_uc010jur.2_Silent_p.S6S|RGL2_uc003odw.2_Silent_p.S364S|RGL2_uc011drb.1_Silent_p.S364S NM_004761 NP_004752 O15211 RGL2_HUMAN ral guanine nucleotide dissociation 446 Ras-GEF. Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity skin(3)|lung(1)|breast(1)|pancreas(1) 6 ACTCATCCTTGGAGGCTGCAT 0.582 5 12 --- --- --- --- PASS TAF11 6882 broad.mit.edu 37 6 34850791 34850791 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr6:34850791C>T uc003ojw.1 - 2 323 c.238G>A c.(238-240)GCA>ACA p.A80T UHRF1BP1_uc010jvm.1_RNA|TAF11_uc011dsr.1_Missense_Mutation_p.A80T NM_005643 NP_005634 Q15544 TAF11_HUMAN TBP-associated factor 11 80 positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction transcription factor TFIID complex protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding 0 TTTTTGGCTGCAGGATTAAGT 0.348 23 33 --- --- --- --- PASS TCP11 6954 broad.mit.edu 37 6 35089954 35089954 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr6:35089954G>T uc003okd.2 - 5 738 c.557C>A c.(556-558)CCA>CAA p.P186Q TCP11_uc003ojz.1_Missense_Mutation_p.P111Q|TCP11_uc003oka.2_Missense_Mutation_p.P111Q|TCP11_uc003okb.2_Missense_Mutation_p.P110Q|TCP11_uc003okc.2_Missense_Mutation_p.P110Q|TCP11_uc011dsu.1_Missense_Mutation_p.P168Q|TCP11_uc011dsv.1_Missense_Mutation_p.P135Q|TCP11_uc011dsw.1_Missense_Mutation_p.P140Q NM_001093728 NP_001087197 Q8WWU5 TCP11_HUMAN t-complex 11 isoform 1 173 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(3)|skin(2) 5 ATCTCGAACTGGTGCACACAG 0.478 5 81 --- --- --- --- PASS TJAP1 93643 broad.mit.edu 37 6 43471417 43471417 + Silent SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr6:43471417C>T uc003ovd.2 + 10 928 c.552C>T c.(550-552)TCC>TCT p.S184S TJAP1_uc003ovf.2_Silent_p.S174S|TJAP1_uc003ove.2_Silent_p.S174S|TJAP1_uc003ovc.2_Silent_p.S174S|TJAP1_uc010jyp.2_Silent_p.S143S|TJAP1_uc011dvh.1_Silent_p.S174S|TJAP1_uc003ovg.2_Silent_p.S50S|TJAP1_uc011dvi.1_Silent_p.S184S|TJAP1_uc011dvj.1_5'UTR|TJAP1_uc003ovi.2_Silent_p.S50S NM_001146016 NP_001139488 Q5JTD0 TJAP1_HUMAN tight junction associated protein 1 isoform a 184 Golgi apparatus|tight junction protein binding 0 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GCAACAAGTCCCACTTCCGAA 0.562 11 87 --- --- --- --- PASS GPR111 222611 broad.mit.edu 37 6 47650109 47650109 + Missense_Mutation SNP T A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr6:47650109T>A uc010jzj.1 + 6 1815 c.1814T>A c.(1813-1815)CTG>CAG p.L605Q GPR111_uc010jzk.1_Missense_Mutation_p.L537Q|GPR111_uc003oyy.2_RNA NM_153839 NP_722581 Q8IZF7 GP111_HUMAN G-protein coupled receptor 111 605 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 AAAGCCCTCCTGGCCTTCGTG 0.537 27 29 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51640631 51640631 + Silent SNP T G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr6:51640631T>G uc003pah.1 - 54 8805 c.8529A>C c.(8527-8529)GGA>GGC p.G2843G PKHD1_uc010jzn.1_Silent_p.G826G|PKHD1_uc003pai.2_Silent_p.G2843G NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 2843 G8 2.|Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) CAATATGAATTCCATTCATAC 0.333 6 46 --- --- --- --- PASS DOPEY1 23033 broad.mit.edu 37 6 83818789 83818789 + Missense_Mutation SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr6:83818789T>C uc003pjs.1 + 5 741 c.481T>C c.(481-483)TAC>CAC p.Y161H DOPEY1_uc011dyy.1_Missense_Mutation_p.Y161H|DOPEY1_uc010kbl.1_Missense_Mutation_p.Y161H NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 161 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) AGGATCAGAGTACTATGAGAG 0.358 9 48 --- --- --- --- PASS CNR1 1268 broad.mit.edu 37 6 88854625 88854625 + Silent SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr6:88854625G>T uc011dzq.1 - 2 3932 c.369C>A c.(367-369)TCC>TCA p.S123S CNR1_uc010kbz.2_Silent_p.S123S|CNR1_uc011dzr.1_Silent_p.S123S|CNR1_uc011dzs.1_Silent_p.S123S|CNR1_uc003pmq.3_Silent_p.S123S|CNR1_uc011dzt.1_Silent_p.S123S|CNR1_uc010kca.2_Silent_p.S90S NM_001160260 NP_001153732 P21554 CNR1_HUMAN cannabinoid receptor 1 isoform a 123 Helical; Name=1; (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding skin(2) 2 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) CCAGCGTGAGGGACAGGACTG 0.587 6 13 --- --- --- --- PASS EPHA7 2045 broad.mit.edu 37 6 94120471 94120471 + Missense_Mutation SNP C G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr6:94120471C>G uc003poe.2 - 3 821 c.580G>C c.(580-582)GCT>CCT p.A194P EPHA7_uc003pof.2_Missense_Mutation_p.A194P|EPHA7_uc011eac.1_Missense_Mutation_p.A194P|EPHA7_uc003pog.3_Missense_Mutation_p.A194P NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 194 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) GAAACCAAAGCTATGCAAGCC 0.408 12 27 --- --- --- --- PASS KIAA0776 23376 broad.mit.edu 37 6 96984166 96984166 + Silent SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr6:96984166G>T uc003por.2 + 8 750 c.702G>T c.(700-702)GTG>GTT p.V234V KIAA0776_uc010kck.2_RNA NM_015323 NP_056138 O94874 UFL1_HUMAN hypothetical protein LOC23376 234 Involved in CDK5RAP3-binding. negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity ovary(1) 1 all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0934) GAGGCACTGTGGTTGGTGGGA 0.433 5 51 --- --- --- --- PASS OSTM1 28962 broad.mit.edu 37 6 108375753 108375753 + Missense_Mutation SNP T A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr6:108375753T>A uc003psd.2 - 3 642 c.556A>T c.(556-558)ACA>TCA p.T186S NM_014028 NP_054747 Q86WC4 OSTM1_HUMAN osteopetrosis associated transmembrane protein 1 186 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938) BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581) AAATATACTGTGCTGTTTGAT 0.264 6 12 --- --- --- --- PASS ROS1 6098 broad.mit.edu 37 6 117632279 117632279 + Missense_Mutation SNP A T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr6:117632279A>T uc003pxp.1 - 39 6336 c.6137T>A c.(6136-6138)TTT>TAT p.F2046Y ROS1_uc011ebi.1_RNA NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 2046 Protein kinase.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AGGACCATAAAACTGTAAGAA 0.279 T GOPC|ROS1 glioblastoma|NSCLC 16 18 --- --- --- --- PASS TAAR8 83551 broad.mit.edu 37 6 132874419 132874419 + Silent SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr6:132874419C>T uc011ecj.1 + 1 588 c.588C>T c.(586-588)GGC>GGT p.G196G NM_053278 NP_444508 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 196 Helical; Name=5; (Potential). plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) TAAGTCAAGGCTGGGTGTTGA 0.378 14 42 --- --- --- --- PASS AHI1 54806 broad.mit.edu 37 6 135784438 135784438 + Silent SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr6:135784438C>T uc003qgi.2 - 8 1140 c.756G>A c.(754-756)TTG>TTA p.L252L AHI1_uc003qgh.2_Silent_p.L252L|AHI1_uc003qgj.2_Silent_p.L252L|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Silent_p.L252L NM_001134831 NP_001128303 Q8N157 AHI1_HUMAN Abelson helper integration site 1 isoform a 252 adherens junction|cilium|microtubule basal body ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) CAGAGATGGTCAATGTACTAC 0.323 23 36 --- --- --- --- PASS STXBP5 134957 broad.mit.edu 37 6 147685233 147685233 + Silent SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr6:147685233A>G uc003qlz.2 + 25 3173 c.3012A>G c.(3010-3012)GCA>GCG p.A1004A STXBP5_uc010khz.1_Silent_p.A968A|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Silent_p.A659A NM_001127715 NP_001121187 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) isoform b 1004 WD 14. exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) ATGGACAAGCATTATACCTTG 0.363 16 31 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152605154 152605154 + Missense_Mutation SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr6:152605154T>C uc010kiw.2 - 96 18768 c.18166A>G c.(18166-18168)ACC>GCC p.T6056A SYNE1_uc010kiv.2_Missense_Mutation_p.T580A|SYNE1_uc003qos.3_Missense_Mutation_p.T580A|SYNE1_uc003qot.3_Missense_Mutation_p.T5985A|SYNE1_uc003qou.3_Missense_Mutation_p.T6056A|SYNE1_uc010kiy.1_Missense_Mutation_p.T235A NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6056 Spectrin 20.|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) ATCCTGATGGTGGACATTCGC 0.532 HNSCC(10;0.0054) 7 25 --- --- --- --- PASS MAD1L1 8379 broad.mit.edu 37 7 2259027 2259027 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr7:2259027C>T uc003slh.1 - 6 802 c.536G>A c.(535-537)CGG>CAG p.R179Q MAD1L1_uc003slf.1_Missense_Mutation_p.R179Q|MAD1L1_uc003slg.1_Missense_Mutation_p.R179Q|MAD1L1_uc010ksh.1_Missense_Mutation_p.R179Q|MAD1L1_uc003sli.1_Missense_Mutation_p.R87Q|MAD1L1_uc010ksi.1_Missense_Mutation_p.R132Q|MAD1L1_uc010ksj.2_Missense_Mutation_p.R179Q NM_001013836 NP_001013858 Q9Y6D9 MD1L1_HUMAN MAD1-like 1 protein 179 Potential. cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) GCGCTTCACCCGCATCTCCTG 0.632 4 12 --- --- --- --- PASS SNX13 23161 broad.mit.edu 37 7 17915137 17915137 + Silent SNP A T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr7:17915137A>T uc003stw.1 - 7 843 c.630T>A c.(628-630)CGT>CGA p.R210R SNX13_uc003stv.2_Silent_p.R210R|SNX13_uc010kuc.2_Silent_p.R7R|SNX13_uc003stx.1_Silent_p.R130R Q9Y5W8 SNX13_HUMAN SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g; 210 PXA. cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity central_nervous_system(2)|kidney(1) 3 Lung NSC(10;0.0261)|all_lung(11;0.0521) ACACTAGATCACGGCAAACCT 0.358 17 32 --- --- --- --- PASS SNX13 23161 broad.mit.edu 37 7 17930108 17930108 + Splice_Site SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr7:17930108C>A uc003stw.1 - 5 532 c.319_splice c.e5-1 p.V107_splice SNX13_uc003stv.2_Splice_Site_p.V107_splice|SNX13_uc010kuc.2_Splice_Site|SNX13_uc003stx.1_Splice_Site_p.V27_splice|SNX13_uc003sty.2_Splice_Site_p.V107_splice Q9Y5W8 SNX13_HUMAN SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g; cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity central_nervous_system(2)|kidney(1) 3 Lung NSC(10;0.0261)|all_lung(11;0.0521) ACTGGATAACCTATAACAAAA 0.289 5 50 --- --- --- --- PASS INMT 11185 broad.mit.edu 37 7 30793552 30793552 + Missense_Mutation SNP C G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr7:30793552C>G uc003tbs.1 + 2 376 c.360C>G c.(358-360)AAC>AAG p.N120K FAM188B_uc010kwe.2_5'UTR|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Missense_Mutation_p.N119K NM_006774 NP_006765 O95050 INMT_HUMAN indolethylamine N-methyltransferase 120 cytoplasm amine N-methyltransferase activity 0 TGGAAGGAAACAGGTAGGGGT 0.572 9 52 --- --- --- --- PASS ADCYAP1R1 117 broad.mit.edu 37 7 31142865 31142865 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr7:31142865C>A uc003tca.1 + 14 1284 c.1061C>A c.(1060-1062)TCC>TAC p.S354Y ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.S333Y|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.S382Y|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.S382Y|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.S381Y|ADCYAP1R1_uc003tcf.1_Missense_Mutation_p.S112Y NM_001118 NP_001109 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 354 Helical; Name=6; (Potential). activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity ovary(1) 1 CTGGCCCGGTCCACCCTGCTG 0.582 32 59 --- --- --- --- PASS ZNF479 90827 broad.mit.edu 37 7 57187734 57187734 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr7:57187734C>A uc010kzo.2 - 5 1659 c.1388G>T c.(1387-1389)AGA>ATA p.R463I NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 463 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) TGTGTAGGGTCTCTCTCCAGT 0.418 34 55 --- --- --- --- PASS ZNF117 51351 broad.mit.edu 37 7 64439401 64439401 + Missense_Mutation SNP T A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr7:64439401T>A uc003ttr.2 - 4 1833 c.548A>T c.(547-549)CAT>CTT p.H183L NM_015852 NP_056936 Q03924 ZN117_HUMAN zinc finger protein 117 183 C2H2-type 3. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 Lung NSC(55;0.0295)|all_lung(88;0.0691) AATTCTCTTATGTCTAATAAG 0.348 5 54 --- --- --- --- PASS ZNF92 168374 broad.mit.edu 37 7 64863284 64863284 + Nonsense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr7:64863284G>A uc003ttz.2 + 4 400 c.257G>A c.(256-258)TGG>TAG p.W86* ZNF92_uc003tua.2_Nonsense_Mutation_p.W17*|ZNF92_uc010kzu.2_Nonsense_Mutation_p.W54*|ZNF92_uc003tub.2_Nonsense_Mutation_p.W10* NM_152626 NP_689839 Q03936 ZNF92_HUMAN zinc finger protein 92 isoform 2 86 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(55;0.159) CAAGATGTTTGGCCAGAGCAC 0.308 7 53 --- --- --- --- PASS POM121 9883 broad.mit.edu 37 7 72400567 72400567 + Missense_Mutation SNP C G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr7:72400567C>G uc003twk.2 + 5 1193 c.1193C>G c.(1192-1194)ACA>AGA p.T398R POM121_uc003twj.2_Missense_Mutation_p.T133R|POM121_uc010lam.1_Missense_Mutation_p.T133R NM_172020 NP_742017 Q96HA1 P121A_HUMAN nuclear pore membrane protein 121 398 Ser-rich.|Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore 0 Lung NSC(55;0.163) AGCTCCTTGACAGGCGCTTAC 0.507 26 161 --- --- --- --- PASS GTF2IRD1 9569 broad.mit.edu 37 7 73969722 73969722 + Splice_Site SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr7:73969722G>C uc003uaq.2 + 19 2360 c.1967_splice c.e19-1 p.G656_splice GTF2IRD1_uc010lbq.2_Intron|GTF2IRD1_uc003uap.2_Intron|GTF2IRD1_uc003uar.1_Intron NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 isoform 1 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(4) 4 TTGGGTCCCAGGAACTGCCTC 0.632 4 21 --- --- --- --- PASS STYXL1 51657 broad.mit.edu 37 7 75630284 75630284 + Missense_Mutation SNP A T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr7:75630284A>T uc003uej.3 - 8 907 c.734T>A c.(733-735)TTT>TAT p.F245Y STYXL1_uc003uef.2_Intron|STYXL1_uc011kgf.1_Intron|STYXL1_uc011kgg.1_Intron|STYXL1_uc003ueh.2_Missense_Mutation_p.F107Y|STYXL1_uc003uek.3_Missense_Mutation_p.F149Y|STYXL1_uc003uel.2_Missense_Mutation_p.F245Y|STYXL1_uc003uem.2_Missense_Mutation_p.F245Y|STYXL1_uc010ldg.1_Intron|STYXL1_uc010ldh.1_Missense_Mutation_p.F245Y|STYXL1_uc003uen.1_Intron NM_016086 NP_057170 Q9Y6J8 STYL1_HUMAN map kinase phosphatase-like protein MK-STYX 245 Tyrosine-protein phosphatase. intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity 0 TTGGGTGGAAAAGATCAGAAT 0.562 5 73 --- --- --- --- PASS CACNA2D1 781 broad.mit.edu 37 7 81591298 81591298 + Nonsense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr7:81591298G>A uc003uhr.1 - 36 3134 c.2878C>T c.(2878-2880)CAG>TAG p.Q960* CACNA2D1_uc011kgy.1_Nonsense_Mutation_p.Q172* NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 972 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) ATGCAGCTCTGCTTGGACAGG 0.448 9 54 --- --- --- --- PASS SEMA3E 9723 broad.mit.edu 37 7 83037796 83037796 + Silent SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr7:83037796T>C uc003uhy.1 - 6 1024 c.558A>G c.(556-558)GAA>GAG p.E186E NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 186 Sema. axon guidance extracellular space|membrane receptor activity ovary(3) 3 Medulloblastoma(109;0.109) CAGCAAACAATTCACTACCTA 0.423 14 24 --- --- --- --- PASS DMTF1 9988 broad.mit.edu 37 7 86823124 86823124 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr7:86823124G>T uc003uih.2 + 16 2060 c.1734G>T c.(1732-1734)GAG>GAT p.E578D DMTF1_uc003uii.2_Missense_Mutation_p.E312D|DMTF1_uc003uij.2_Missense_Mutation_p.E312D|DMTF1_uc011khb.1_Missense_Mutation_p.E490D|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.E578D|DMTF1_uc003uin.2_Missense_Mutation_p.E312D NM_001142327 NP_001135799 Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 578 Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for transcriptional activation (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 Esophageal squamous(14;0.0058) TTGCCACAGAGGACATCACTT 0.423 7 103 --- --- --- --- PASS STEAP2 261729 broad.mit.edu 37 7 89854850 89854850 + Missense_Mutation SNP T A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr7:89854850T>A uc003ujz.2 + 2 847 c.454T>A c.(454-456)TGG>AGG p.W152R STEAP2_uc003ujy.2_Missense_Mutation_p.W194R|STEAP2_uc010len.2_Missense_Mutation_p.W152R|STEAP2_uc003uka.2_Missense_Mutation_p.W152R|STEAP2_uc003ukb.2_Missense_Mutation_p.W152R|STEAP2_uc003ukc.2_Missense_Mutation_p.W152R|STEAP2_uc003ukd.2_Missense_Mutation_p.W152R NM_152999 NP_694544 Q8NFT2 STEA2_HUMAN six transmembrane epithelial antigen of the 152 electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity ovary(2) 2 all_hematologic(106;0.112) TGTCTCAGCTTGGGCACTTCA 0.363 21 86 --- --- --- --- PASS COL1A2 1278 broad.mit.edu 37 7 94038087 94038087 + Silent SNP C T T rs1800227 TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr7:94038087C>T uc003ung.1 + 16 1215 c.744C>T c.(742-744)CCC>CCT p.P248P COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 248 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TTCAGGGTCCCATTGGGTCTG 0.443 HNSCC(75;0.22) 10 20 --- --- --- --- PASS DYNC1I1 1780 broad.mit.edu 37 7 95606829 95606829 + Nonsense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr7:95606829G>T uc003uoc.3 + 7 824 c.547G>T c.(547-549)GAG>TAG p.E183* DYNC1I1_uc003uod.3_Nonsense_Mutation_p.E166*|DYNC1I1_uc003uob.2_Nonsense_Mutation_p.E146*|DYNC1I1_uc003uoe.3_Nonsense_Mutation_p.E163*|DYNC1I1_uc010lfl.2_Nonsense_Mutation_p.E172* NM_004411 NP_004402 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 183 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity ovary(3)|kidney(1) 4 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) TCTAGAGGATGAGGAAGATGA 0.378 4 27 --- --- --- --- PASS PIK3CG 5294 broad.mit.edu 37 7 106545676 106545676 + Silent SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr7:106545676C>T uc003vdv.3 + 11 3238 c.3153C>T c.(3151-3153)ATC>ATT p.I1051I PIK3CG_uc003vdu.2_Silent_p.I1051I|PIK3CG_uc003vdw.2_Silent_p.I1051I NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 1051 PI3K/PI4K. G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding p.I1051I(1) lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 TTGAATATATCCGGGATGCCC 0.433 10 113 --- --- --- --- PASS CTTNBP2 83992 broad.mit.edu 37 7 117432706 117432706 + Missense_Mutation SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr7:117432706A>G uc003vjf.2 - 4 636 c.544T>C c.(544-546)TCA>CCA p.S182P NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 182 Potential. 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) ACTTTGCCTGAGAGCTGCTTG 0.517 6 77 --- --- --- --- PASS ING3 54556 broad.mit.edu 37 7 120593375 120593375 + Missense_Mutation SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr7:120593375G>C uc003vjn.2 + 3 252 c.118G>C c.(118-120)GAA>CAA p.E40Q ING3_uc011knr.1_Missense_Mutation_p.E40Q|ING3_uc003vjl.2_Missense_Mutation_p.E40Q|ING3_uc003vjm.1_Missense_Mutation_p.E40Q|ING3_uc003vjo.2_5'UTR|ING3_uc003vjp.2_Missense_Mutation_p.E40Q|ING3_uc011kns.1_Missense_Mutation_p.E25Q NM_019071 NP_061944 Q9NXR8 ING3_HUMAN inhibitor of growth family, member 3 isoform 1 40 histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex zinc ion binding ovary(1) 1 all_neural(327;0.117) GGATCAACTAGAACAAAGAGT 0.308 9 59 --- --- --- --- PASS TAS2R16 50833 broad.mit.edu 37 7 122635112 122635112 + Silent SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr7:122635112G>A uc003vkl.1 - 1 643 c.577C>T c.(577-579)CTG>TTG p.L193L NM_016945 NP_058641 Q9NYV7 T2R16_HUMAN taste receptor T2R16 193 Helical; Name=5; (Potential). detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding ovary(1)|skin(1) 2 GTGGAGGCCAGGAACAGGATG 0.448 24 90 --- --- --- --- PASS CNOT4 4850 broad.mit.edu 37 7 135073610 135073610 + Nonsense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr7:135073610G>T uc003vsv.1 - 11 1971 c.1664C>A c.(1663-1665)TCA>TAA p.S555* CNOT4_uc003vss.2_Intron|CNOT4_uc011kpz.1_Intron|CNOT4_uc003vst.2_Intron|CNOT4_uc003vsu.1_Nonsense_Mutation_p.S552*|CNOT4_uc011kpy.1_Intron NM_001008225 NP_001008226 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 555 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding 0 GGAAGAGGTTGACAGTGGCAT 0.463 12 56 --- --- --- --- PASS CHRM2 1129 broad.mit.edu 37 7 136700851 136700851 + Silent SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr7:136700851T>C uc003vtf.1 + 4 1862 c.1239T>C c.(1237-1239)TGT>TGC p.C413C CHRM2_uc003vtg.1_Silent_p.C413C|CHRM2_uc003vtj.1_Silent_p.C413C|CHRM2_uc003vtk.1_Silent_p.C413C|CHRM2_uc003vtl.1_Silent_p.C413C|CHRM2_uc003vtm.1_Silent_p.C413C|CHRM2_uc003vti.1_Silent_p.C413C|CHRM2_uc003vto.1_Silent_p.C413C|CHRM2_uc003vtn.1_Silent_p.C413C|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 413 Extracellular (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) ACACCTTTTGTGCACCTTGCA 0.473 17 64 --- --- --- --- PASS TRPV5 56302 broad.mit.edu 37 7 142627186 142627186 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr7:142627186C>T uc003wby.1 - 3 580 c.316G>A c.(316-318)GTC>ATC p.V106I TRPV5_uc003wbz.2_Missense_Mutation_p.V106I NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 106 Cytoplasmic (Potential).|ANK 2. protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) GGCTCAAAGACCAGCTCTGGG 0.557 7 53 --- --- --- --- PASS ABCF2 10061 broad.mit.edu 37 7 150921189 150921189 + Silent SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr7:150921189G>A uc003wjp.2 - 4 490 c.379C>T c.(379-381)CTG>TTG p.L127L ABCF2_uc003wjo.1_Silent_p.L127L NM_007189 NP_009120 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F, member 2 127 ABC transporter 1. ATP-binding cassette (ABC) transporter complex|mitochondrial envelope ATP binding|ATPase activity|transporter activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCAGAGAGCAGCATGGACTTT 0.547 29 27 --- --- --- --- PASS ABCF2 10061 broad.mit.edu 37 7 150921902 150921902 + Silent SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr7:150921902G>A uc003wjp.2 - 3 438 c.327C>T c.(325-327)AAC>AAT p.N109N ABCF2_uc003wjo.1_Silent_p.N109N NM_007189 NP_009120 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F, member 2 109 ABC transporter 1. ATP-binding cassette (ABC) transporter complex|mitochondrial envelope ATP binding|ATPase activity|transporter activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GACGGCCTGAGTTTAATTCCA 0.488 36 45 --- --- --- --- PASS SH2D4A 63898 broad.mit.edu 37 8 19214747 19214747 + Missense_Mutation SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr8:19214747A>G uc003wzb.2 + 5 883 c.547A>G c.(547-549)ATG>GTG p.M183V SH2D4A_uc011kym.1_Missense_Mutation_p.M138V|SH2D4A_uc003wzc.2_Missense_Mutation_p.M183V NM_022071 NP_071354 Q9H788 SH24A_HUMAN SH2 domain containing 4A 183 cytoplasm|nucleus protein binding 0 Colorectal(111;0.0732) TATTCAACAAATGTTGGCAGA 0.403 32 18 --- --- --- --- PASS PPP3CC 5533 broad.mit.edu 37 8 22368619 22368619 + Nonsense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr8:22368619C>T uc003xbs.2 + 5 832 c.505C>T c.(505-507)CAG>TAG p.Q169* PPP3CC_uc003xbr.1_Nonsense_Mutation_p.Q169*|PPP3CC_uc011kzi.1_Nonsense_Mutation_p.Q169*|PPP3CC_uc003xbt.2_Nonsense_Mutation_p.Q169* NM_005605 NP_005596 P48454 PP2BC_HUMAN protein phosphatase 3, catalytic subunit, gamma 169 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals cytosol calmodulin binding|metal ion binding|phosphoprotein phosphatase activity ovary(1) 1 Prostate(55;0.104) BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835) ATATTCGGAACAGGTGTATGA 0.398 10 87 --- --- --- --- PASS NRG1 3084 broad.mit.edu 37 8 32599566 32599566 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr8:32599566G>T uc003xiv.2 + 7 1190 c.673G>T c.(673-675)GTG>TTG p.V225L NRG1_uc003xip.2_Intron|NRG1_uc010lvn.2_Intron|NRG1_uc003xis.2_Intron|NRG1_uc011lbf.1_Intron|NRG1_uc010lvo.2_Intron|NRG1_uc003xiu.2_Intron|NRG1_uc003xiw.2_Intron|NRG1_uc003xit.2_Missense_Mutation_p.V225L|NRG1_uc010lvr.2_Intron|NRG1_uc010lvs.2_Intron|NRG1_uc010lvp.2_Intron|NRG1_uc010lvq.2_Intron|NRG1_uc003xix.2_Missense_Mutation_p.V115L|NRG1_uc003xiy.2_Intron|NRG1_uc010lvt.2_Intron|NRG1_uc011lbg.1_Missense_Mutation_p.V71L|NRG1_uc011lbh.1_Intron|NRG1_uc003xiz.1_RNA|NRG1_uc003xja.2_Missense_Mutation_p.V28L NM_013964 NP_039258 Q02297 NRG1_HUMAN neuregulin 1 isoform HRG-alpha 225 Extracellular (Potential). activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity 0 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) TACTGAGAATGTGCCCATGAA 0.403 33 12 --- --- --- --- PASS POLB 5423 broad.mit.edu 37 8 42196567 42196567 + Silent SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr8:42196567C>T uc003xoz.1 + 2 212 c.99C>T c.(97-99)ATC>ATT p.I33I POLB_uc003xpa.1_Silent_p.I33I|POLB_uc011lcs.1_Intron NM_002690 NP_002681 P06746 DPOLB_HUMAN DNA-directed DNA polymerase beta 33 DNA-dependent DNA replication cytoplasm|nucleoplasm|spindle microtubule DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding ovary(1)|breast(1) 2 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024) Cytarabine(DB00987) GCCAAGCTATCCACAAGTACA 0.483 DNA_polymerases_(catalytic_subunits) 6 33 --- --- --- --- PASS RNF170 81790 broad.mit.edu 37 8 42729125 42729125 + Silent SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr8:42729125T>C uc003xpo.2 - 3 639 c.162A>G c.(160-162)CCA>CCG p.P54P RNF170_uc011lcx.1_Silent_p.P54P|RNF170_uc010lxp.2_5'UTR|RNF170_uc003xpm.2_Silent_p.P54P|RNF170_uc003xpp.2_5'UTR|RNF170_uc003xpn.2_5'UTR|RNF170_uc003xpq.3_Silent_p.P54P NM_001160223 NP_001153695 Q96K19 RN170_HUMAN ring finger protein 170 isoform a 54 integral to membrane zinc ion binding 0 all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) CCTGGTTTTCTGGGTGAATGT 0.328 7 39 --- --- --- --- PASS HGSNAT 138050 broad.mit.edu 37 8 43033220 43033220 + Silent SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr8:43033220T>C uc003xpx.3 + 10 903 c.855T>C c.(853-855)TTT>TTC p.F285F NM_152419 NP_689632 Q68CP4 HGNAT_HUMAN heparan-alpha-glucosaminide N-acetyltransferase 313 Helical; (Potential). lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity 0 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) TTTTTAGGTTTGTATTTATTA 0.328 53 51 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52320691 52320691 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr8:52320691C>A uc003xqu.3 - 17 3594 c.3493G>T c.(3493-3495)GTT>TTT p.V1165F PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1165 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) AAGTTCTTAACTGAAGTCAAA 0.398 8 45 --- --- --- --- PASS OPRK1 4986 broad.mit.edu 37 8 54142385 54142385 + Silent SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr8:54142385G>A uc003xrh.1 - 3 990 c.615C>T c.(613-615)GTC>GTT p.V205V OPRK1_uc003xri.1_Silent_p.V205V|OPRK1_uc010lyc.1_Silent_p.V116V NM_000912 NP_000903 P41145 OPRK_HUMAN opioid receptor, kappa 1 205 Extracellular (Potential). behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding ovary(1)|skin(1) 2 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) CAATGACATCGACGTCTGGAG 0.423 5 42 --- --- --- --- PASS NKAIN3 286183 broad.mit.edu 37 8 63659590 63659590 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr8:63659590G>T uc010lyq.1 + 4 505 c.373G>T c.(373-375)GGC>TGC p.G125C NM_173688 NP_775959 Q8N8D7 NKAI3_HUMAN Na+/K+ transporting ATPase interacting 3 125 integral to membrane|plasma membrane 0 Breast(64;0.127) Lung NSC(129;0.187) CTCAGCCCATGGCATGATGGA 0.507 7 37 --- --- --- --- PASS TRPA1 8989 broad.mit.edu 37 8 72948636 72948636 + Silent SNP C G G rs146434598 byFrequency TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr8:72948636C>G uc003xza.2 - 21 2617 c.2442G>C c.(2440-2442)ACG>ACC p.T814T uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 814 Helical; Name=3; (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) AAATGATGCCCGTCGTGTAGA 0.353 5 44 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77775400 77775400 + Silent SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr8:77775400C>A uc003yav.2 + 11 9702 c.9315C>A c.(9313-9315)CTC>CTA p.L3105L NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3101 Pro-rich. 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) CCCTGTCTCTCAGCAGTGCCC 0.423 HNSCC(33;0.089) 6 6 --- --- --- --- PASS FAM92A1 137392 broad.mit.edu 37 8 94717142 94717142 + Silent SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr8:94717142C>T uc010maq.2 + 4 439 c.336C>T c.(334-336)GAC>GAT p.D112D FAM92A1_uc003yfu.1_RNA|FAM92A1_uc003yfv.3_RNA NM_145269 NP_660312 A1XBS5 F92A1_HUMAN hypothetical protein LOC137392 112 Potential. 0 Breast(36;2.4e-06) BRCA - Breast invasive adenocarcinoma(8;0.0168) TGCAGGATGACCTCAAAGCAA 0.308 22 49 --- --- --- --- PASS VPS13B 157680 broad.mit.edu 37 8 100050736 100050736 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr8:100050736C>A uc003yiv.2 + 3 344 c.233C>A c.(232-234)CCA>CAA p.P78Q VPS13B_uc003yiw.2_Missense_Mutation_p.P78Q|VPS13B_uc003yit.2_Missense_Mutation_p.P78Q|VPS13B_uc003yiu.1_Missense_Mutation_p.P78Q|VPS13B_uc003yis.2_Missense_Mutation_p.P78Q|VPS13B_uc011lgy.1_5'UTR NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 78 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GGTTCAGAACCAGTGGTAATT 0.318 4 29 --- --- --- --- PASS PABPC1 26986 broad.mit.edu 37 8 101719181 101719181 + Missense_Mutation SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr8:101719181G>C uc003yjs.1 - 10 1885 c.1381C>G c.(1381-1383)CCA>GCA p.P461A PABPC1_uc011lhc.1_Missense_Mutation_p.P429A|PABPC1_uc011lhd.1_Missense_Mutation_p.P416A|PABPC1_uc003yjt.1_Missense_Mutation_p.P458A|PABPC1_uc003yju.2_Intron NM_002568 NP_002559 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 461 mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity 0 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) CTAAATGGTGGTCTAGGAGCA 0.418 12 95 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110495260 110495260 + Missense_Mutation SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr8:110495260T>C uc003yne.2 + 57 9606 c.9502T>C c.(9502-9504)TAT>CAT p.Y3168H NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3168 Extracellular (Potential).|G8 2. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ACATTCAATATATAAAACTAA 0.408 HNSCC(38;0.096) 18 26 --- --- --- --- PASS RAD21 5885 broad.mit.edu 37 8 117862949 117862949 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr8:117862949G>T uc003yod.2 - 12 1816 c.1528C>A c.(1528-1530)CCA>ACA p.P510T NM_006265 NP_006256 O60216 RAD21_HUMAN RAD21 homolog 510 Pro-rich. apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding lung(1)|skin(1) 2 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) CAGATATTTGGAGGTTCTTCT 0.328 6 71 --- --- --- --- PASS TAF2 6873 broad.mit.edu 37 8 120831664 120831664 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr8:120831664C>A uc003you.2 - 3 491 c.221G>T c.(220-222)CGA>CTA p.R74L NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 74 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(2)|ovary(2)|kidney(1)|skin(1) 6 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GATCCTTACTCGGTATATTCT 0.343 5 100 --- --- --- --- PASS LRRC6 23639 broad.mit.edu 37 8 133673830 133673830 + Silent SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr8:133673830A>G uc003ytk.2 - 2 128 c.54T>C c.(52-54)TGT>TGC p.C18C LRRC6_uc003ytl.2_RNA NM_012472 NP_036604 Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 18 cytoplasm ovary(1)|kidney(1) 2 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) AAAAAATGACACAGTCGTTGT 0.363 13 39 --- --- --- --- PASS TG 7038 broad.mit.edu 37 8 133900281 133900281 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr8:133900281G>T uc003ytw.2 + 10 2270 c.2229G>T c.(2227-2229)CAG>CAT p.Q743H NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 743 Thyroglobulin type-1 7. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GGACGGTGCAGGCCCTGCTCT 0.532 9 33 --- --- --- --- PASS SLC45A4 57210 broad.mit.edu 37 8 142228949 142228949 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr8:142228949G>A uc003ywd.1 - 4 945 c.637C>T c.(637-639)CGC>TGC p.R213C SLC45A4_uc003ywc.1_Missense_Mutation_p.R213C|SLC45A4_uc010meq.1_Missense_Mutation_p.R211C NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 264 transport integral to membrane ovary(2) 2 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) TCAGCGCTGCGCTCCTGCTGC 0.662 26 35 --- --- --- --- PASS PCSK5 5125 broad.mit.edu 37 9 78794566 78794566 + Missense_Mutation SNP A C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr9:78794566A>C uc004ajz.2 + 15 2493 c.1955A>C c.(1954-1956)CAC>CCC p.H652P PCSK5_uc004aka.2_RNA|PCSK5_uc004akb.2_5'Flank NM_006200 NP_006191 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 652 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 GGACCAGACCACTGCAATGAC 0.478 5 25 --- --- --- --- PASS FLJ46321 389763 broad.mit.edu 37 9 84609023 84609023 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr9:84609023G>T uc004amn.2 + 4 3685 c.3638G>T c.(3637-3639)AGG>ATG p.R1213M NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 1213 integral to membrane 0 TTGGTCCAGAGGAAGCATAGC 0.403 6 122 --- --- --- --- PASS NR4A3 8013 broad.mit.edu 37 9 102626002 102626002 + Silent SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr9:102626002C>A uc004baf.1 + 8 2463 c.1734C>A c.(1732-1734)CCC>CCA p.P578P NR4A3_uc004bag.1_Silent_p.P578P|NR4A3_uc004bai.2_Silent_p.P589P NM_006981 NP_008912 Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 578 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding EWSR1/NR4A3(140)|TAF15/NR4A3(33) bone(173) 173 Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) CTCTGGAGCCCACCGAGTCCA 0.517 T EWSR1 extraskeletal myxoid chondrosarcoma 13 19 --- --- --- --- PASS OR13C4 138804 broad.mit.edu 37 9 107289280 107289280 + Missense_Mutation SNP T A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr9:107289280T>A uc011lvn.1 - 1 211 c.211A>T c.(211-213)ATC>TTC p.I71F NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, 71 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GTATAGCAGATATCCAGGAAA 0.438 11 71 --- --- --- --- PASS SLC25A25 114789 broad.mit.edu 37 9 130854346 130854346 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr9:130854346G>T uc004btd.2 + 1 219 c.197G>T c.(196-198)GGA>GTA p.G66V SLC25A25_uc004btb.2_Intron|SLC25A25_uc004btc.2_Missense_Mutation_p.G66V NM_001006642 NP_001006643 Q6KCM7 SCMC2_HUMAN solute carrier family 25, member 25 isoform c Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding 0 CTGGTGGTTGGACCTGCAGAG 0.542 35 20 --- --- --- --- PASS SPTAN1 6709 broad.mit.edu 37 9 131374420 131374420 + Silent SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr9:131374420G>A uc004bvl.3 + 38 5036 c.4923G>A c.(4921-4923)CAG>CAA p.Q1641Q SPTAN1_uc004bvm.3_Silent_p.Q1646Q|SPTAN1_uc004bvn.3_Silent_p.Q1621Q NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1641 Spectrin 17. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 ACCAGTGGCAGTTCTTGGTGC 0.493 16 60 --- --- --- --- PASS GTF3C4 9329 broad.mit.edu 37 9 135554019 135554019 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr9:135554019G>T uc010mzv.2 + 2 1271 c.1013G>T c.(1012-1014)GGA>GTA p.G338V GTF3C4_uc010mzw.2_RNA NM_012204 NP_036336 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC 4 338 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) AGTGCTTTTGGACCCATAAAA 0.413 5 67 --- --- --- --- PASS RXRA 6256 broad.mit.edu 37 9 137328331 137328331 + Silent SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr9:137328331C>T uc004cfb.2 + 10 1422 c.1260C>T c.(1258-1260)CTC>CTT p.L420L RXRA_uc004cfc.1_Silent_p.L323L NM_002957 NP_002948 P19793 RXRA_HUMAN retinoid X receptor, alpha 420 Ligand-binding. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) AGCTCTTGCTCCGCCTGCCGG 0.612 38 14 --- --- --- --- PASS CAMSAP1 157922 broad.mit.edu 37 9 138710429 138710429 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr9:138710429C>A uc004cgr.3 - 13 3993 c.3993G>T c.(3991-3993)GAG>GAT p.E1331D CAMSAP1_uc004cgq.3_Missense_Mutation_p.E1221D|CAMSAP1_uc010nbg.2_Missense_Mutation_p.E1053D NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1331 cytoplasm|microtubule ovary(1)|central_nervous_system(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) CCTTCTCCTCCTCCTTCCGCA 0.647 4 23 --- --- --- --- PASS DIP2C 22982 broad.mit.edu 37 10 373117 373117 + Splice_Site SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr10:373117C>A uc001ifp.2 - 31 3844 c.3754_splice c.e31-1 p.A1252_splice NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C nucleus catalytic activity|transcription factor binding breast(4)|ovary(2)|large_intestine(1) 7 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GCCCTCGCGCCTGGAGATGAT 0.567 20 8 --- --- --- --- PASS STAM 8027 broad.mit.edu 37 10 17746497 17746497 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr10:17746497C>A uc001ipj.1 + 10 1196 c.980C>A c.(979-981)CCA>CAA p.P327Q STAM_uc009xjw.1_Missense_Mutation_p.Q25K NM_003473 NP_003464 Q92783 STAM1_HUMAN signal transducing adaptor molecule 1 327 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity large_intestine(1)|ovary(1) 2 CCAGACCTACCAGAGCTGCTT 0.373 5 57 --- --- --- --- PASS KIAA1462 57608 broad.mit.edu 37 10 30316392 30316392 + Silent SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr10:30316392C>T uc001iux.2 - 2 2744 c.2685G>A c.(2683-2685)AGG>AGA p.R895R KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.R757R|KIAA1462_uc009xle.1_Silent_p.R895R NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 895 ovary(4) 4 GCACCCACATCCTCGGCTGTG 0.637 10 42 --- --- --- --- PASS PARD3 56288 broad.mit.edu 37 10 34625161 34625161 + Silent SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr10:34625161C>T uc010qej.1 - 18 2580 c.2580G>A c.(2578-2580)GAG>GAA p.E860E PARD3_uc010qek.1_Silent_p.E857E|PARD3_uc010qel.1_Silent_p.E860E|PARD3_uc010qem.1_Silent_p.E844E|PARD3_uc010qen.1_Silent_p.E814E|PARD3_uc010qeo.1_Silent_p.E814E|PARD3_uc010qep.1_Silent_p.E770E|PARD3_uc010qeq.1_Intron|PARD3_uc001ixo.1_Silent_p.E573E|PARD3_uc001ixp.1_Silent_p.E691E|PARD3_uc001ixq.1_Silent_p.E814E|PARD3_uc001ixr.1_Silent_p.E857E|PARD3_uc001ixt.1_Silent_p.E678E|PARD3_uc001ixu.1_Silent_p.E802E|PARD3_uc001ixs.1_Silent_p.E483E NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 860 Interacts with PRKCZ (By similarity). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) TGAGTTTAGTCTCGTCAGCTA 0.408 13 11 --- --- --- --- PASS ZNF33B 7582 broad.mit.edu 37 10 43089100 43089100 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr10:43089100C>T uc001jaf.1 - 5 1413 c.1298G>A c.(1297-1299)AGA>AAA p.R433K ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.R321K|ZNF33B_uc001jad.2_Intron NM_006955 NP_008886 Q06732 ZN33B_HUMAN zinc finger protein 33B 433 C2H2-type 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TGTGTGTGTTCTCTGATGTTT 0.418 15 54 --- --- --- --- PASS P4HA1 5033 broad.mit.edu 37 10 74831843 74831843 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr10:74831843C>T uc010qka.1 - 5 603 c.269G>A c.(268-270)CGT>CAT p.R90H P4HA1_uc001jtg.2_Missense_Mutation_p.R90H|P4HA1_uc001jth.2_Missense_Mutation_p.R90H|P4HA1_uc010qkb.1_Missense_Mutation_p.R90H|P4HA1_uc001jti.2_RNA NM_001142595 NP_001136067 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha I subunit isoform 2 90 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity ovary(1) 1 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) AGTATTCAGACGTTTCATTAA 0.408 14 61 --- --- --- --- PASS NRG3 10718 broad.mit.edu 37 10 84745267 84745267 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr10:84745267C>A uc001kco.2 + 9 2024 c.1997C>A c.(1996-1998)GCC>GAC p.A666D NRG3_uc010qlz.1_Missense_Mutation_p.A665D|NRG3_uc001kcp.2_Missense_Mutation_p.A469D|NRG3_uc001kcq.2_Missense_Mutation_p.A316D|NRG3_uc001kcr.2_Missense_Mutation_p.A340D NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 690 Cytoplasmic (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) GAAAACACAGCCTTTCTCCCC 0.493 5 37 --- --- --- --- PASS CUTC 51076 broad.mit.edu 37 10 101503802 101503802 + Missense_Mutation SNP C G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr10:101503802C>G uc001kqd.3 + 5 560 c.412C>G c.(412-414)CGC>GGC p.R138G CUTC_uc010qpk.1_Missense_Mutation_p.R138G|CUTC_uc001kqe.3_RNA NM_015960 NP_057044 Q9NTM9 CUTC_HUMAN cutC copper transporter homolog 138 copper ion homeostasis|copper ion transport|protein tetramerization cytoplasm|nucleus copper ion binding breast(1) 1 Colorectal(252;0.234) Epithelial(162;3e-10)|all cancers(201;2.37e-08) AGCTATTTGCCGCCCTCTGCC 0.338 5 30 --- --- --- --- PASS SH3PXD2A 9644 broad.mit.edu 37 10 105372887 105372887 + Silent SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr10:105372887C>A uc001kxj.1 - 11 1037 c.897G>T c.(895-897)CTG>CTT p.L299L SH3PXD2A_uc010qqr.1_Silent_p.L189L|SH3PXD2A_uc010qqs.1_Silent_p.L134L|SH3PXD2A_uc010qqt.1_Silent_p.L176L|SH3PXD2A_uc009xxn.1_Silent_p.L134L|SH3PXD2A_uc010qqu.1_Silent_p.L242L NM_014631 NP_055446 Q5TCZ1 SPD2A_HUMAN SH3 multiple domains 1 327 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding 0 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) TCCGGGTTGGCAGGTCATCCT 0.557 36 29 --- --- --- --- PASS COL17A1 1308 broad.mit.edu 37 10 105807833 105807833 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr10:105807833G>A uc001kxr.2 - 30 2426 c.2257C>T c.(2257-2259)CCA>TCA p.P753S NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 753 Extracellular (Potential).|Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CAACCTCTTGGGCCTTGGTGT 0.582 29 117 --- --- --- --- PASS FAM160B1 57700 broad.mit.edu 37 10 116595985 116595985 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr10:116595985C>A uc001lcb.2 + 5 837 c.502C>A c.(502-504)CTG>ATG p.L168M FAM160B1_uc001lcc.2_Missense_Mutation_p.L168M NM_020940 NP_065991 Q5W0V3 F16B1_HUMAN hypothetical protein LOC57700 isoform a 168 lung(1) 1 GGACCCCTACCTGGTTAACTT 0.328 6 124 --- --- --- --- PASS TNNI2 7136 broad.mit.edu 37 11 1862288 1862288 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:1862288G>T uc010qxe.1 + 5 326 c.304G>T c.(304-306)GAT>TAT p.D102Y TNNI2_uc010qxc.1_Missense_Mutation_p.D100Y|TNNI2_uc010qxd.1_Missense_Mutation_p.D100Y NM_001145841 NP_001139313 P48788 TNNI2_HUMAN fast-twitch skeletal muscle troponin I isoform 102 Involved in binding TNC and actin. muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction cytosol|nucleus|troponin complex actin binding|troponin T binding 0 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GAAGCTATTTGATCTGCGGGG 0.592 10 4 --- --- --- --- PASS TNNT3 7140 broad.mit.edu 37 11 1959678 1959678 + Missense_Mutation SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:1959678G>C uc001luu.3 + 16 945 c.733G>C c.(733-735)GCT>CCT p.A245P TNNT3_uc001luw.3_Missense_Mutation_p.A237P|TNNT3_uc001luo.3_Missense_Mutation_p.A237P|TNNT3_uc001lup.3_Missense_Mutation_p.A243P|TNNT3_uc001luq.3_Missense_Mutation_p.A237P|TNNT3_uc001lur.2_Missense_Mutation_p.A237P|TNNT3_uc010qxf.1_Missense_Mutation_p.A243P|TNNT3_uc010qxg.1_Missense_Mutation_p.A177P NM_006757 NP_006748 P45378 TNNT3_HUMAN troponin T3, skeletal, fast isoform 1 256 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding ovary(1) 1 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) CAGCAAGAAGGCTGGGACCCC 0.662 4 26 --- --- --- --- PASS OR52B4 143496 broad.mit.edu 37 11 4388990 4388990 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:4388990G>A uc010qye.1 - 1 536 c.536C>T c.(535-537)ACC>ATC p.T179I NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, 179 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) TTCACAAAAGGTGTGTGGAAT 0.348 43 14 --- --- --- --- PASS OR10A4 283297 broad.mit.edu 37 11 6898522 6898522 + Missense_Mutation SNP T A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:6898522T>A uc010rat.1 + 1 644 c.644T>A c.(643-645)ATC>AAC p.I215N NM_207186 NP_997069 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, 215 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TTCTTGCTGATCCTGGGATCC 0.522 34 19 --- --- --- --- PASS PDE3B 5140 broad.mit.edu 37 11 14666331 14666331 + Missense_Mutation SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:14666331T>C uc001mln.2 + 1 1063 c.710T>C c.(709-711)CTC>CCC p.L237P PDE3B_uc001mlm.2_Missense_Mutation_p.L237P|PDE3B_uc010rcr.1_Missense_Mutation_p.L237P|PSMA1_uc001mll.2_5'Flank NM_000922 NP_000913 Q13370 PDE3B_HUMAN phosphodiesterase 3B 237 Helical; (Potential). cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding 0 TTCACCAGCCTCGGGTCGCTG 0.692 7 2 --- --- --- --- PASS LDHC 3948 broad.mit.edu 37 11 18456380 18456380 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:18456380G>A uc001mon.3 + 5 624 c.512G>A c.(511-513)CGT>CAT p.R171H LDHC_uc001mom.3_Missense_Mutation_p.R171H|LDHC_uc009yhp.2_Missense_Mutation_p.R171H|LDHC_uc001moo.3_Missense_Mutation_p.R55H|LDHC_uc009yhq.2_RNA|LDHC_uc009yhr.2_Missense_Mutation_p.R55H NM_017448 NP_059144 P07864 LDHC_HUMAN L-lactate dehydrogenase C 171 glycolysis cytoplasm binding|L-lactate dehydrogenase activity 0 NADH(DB00157) GCCCGTTTCCGTTACCTAATT 0.373 42 23 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 11 30926574 30926574 + RNA SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:30926574T>C uc001mss.1 - 9 c.1345A>G uc009yjk.1_Missense_Mutation_p.I862M|uc009yjj.1_RNA Homo sapiens mRNA for KIAA1493 protein, partial cds. TGTATGCAATTATTTTCACTG 0.458 7 45 --- --- --- --- PASS TSPAN18 90139 broad.mit.edu 37 11 44939553 44939553 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:44939553G>T uc001mye.3 + 4 450 c.289G>T c.(289-291)GCA>TCA p.A97S TP53I11_uc001myf.1_Intron|TSPAN18_uc001myg.2_Missense_Mutation_p.A97S NM_130783 NP_570139 Q96SJ8 TSN18_HUMAN tetraspanin 18 isoform 2 97 Helical; (Potential). integral to membrane 0 CATCTTCCTGGCAGAGCTCTC 0.582 29 18 --- --- --- --- PASS RAPSN 5913 broad.mit.edu 37 11 47464329 47464329 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:47464329G>T uc001nfi.1 - 3 783 c.569C>A c.(568-570)GCA>GAA p.A190E RAPSN_uc001nfj.1_Missense_Mutation_p.A190E|RAPSN_uc009yls.1_Missense_Mutation_p.A190E NM_005055 NP_005046 Q13702 RAPSN_HUMAN 43 kD receptor-associated protein of the synapse 190 TPR 4. synaptic transmission, cholinergic cell junction|cytoskeleton|postsynaptic membrane acetylcholine receptor binding|zinc ion binding ovary(1) 1 GACAAGCTCTGCCGCCTTGCA 0.612 4 70 --- --- --- --- PASS OR4A15 81328 broad.mit.edu 37 11 55136154 55136154 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:55136154C>A uc010rif.1 + 1 795 c.795C>A c.(793-795)TTC>TTA p.F265L NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 265 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GAAAAGCTTTCTACACCTGTG 0.428 66 30 --- --- --- --- PASS OR4C15 81309 broad.mit.edu 37 11 55322087 55322087 + Missense_Mutation SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:55322087T>C uc010rig.1 + 1 305 c.305T>C c.(304-306)CTC>CCC p.L102P NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 48 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GTAACCATTCTCAGCAGCCCT 0.428 HNSCC(20;0.049) 59 32 --- --- --- --- PASS OR5J2 282775 broad.mit.edu 37 11 55944825 55944825 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:55944825C>A uc010rjb.1 + 1 732 c.732C>A c.(730-732)CAC>CAA p.H244Q NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 244 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) GTGCCTCTCACCTGACTGCTG 0.443 53 19 --- --- --- --- PASS OR5T1 390155 broad.mit.edu 37 11 56043229 56043229 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:56043229C>A uc001nio.1 + 1 115 c.115C>A c.(115-117)CTA>ATA p.L39I NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 39 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) GCAAGTCTTCCTATTTTTATT 0.333 5 61 --- --- --- --- PASS OR8J1 219477 broad.mit.edu 37 11 56128066 56128066 + Missense_Mutation SNP T G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:56128066T>G uc010rjh.1 + 1 344 c.344T>G c.(343-345)CTG>CGG p.L115R NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 115 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GTAATCATGCTGGCTTTGATG 0.473 50 31 --- --- --- --- PASS OR8J1 219477 broad.mit.edu 37 11 56128067 56128067 + Silent SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:56128067G>T uc010rjh.1 + 1 345 c.345G>T c.(343-345)CTG>CTT p.L115L NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 115 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) TAATCATGCTGGCTTTGATGG 0.468 47 34 --- --- --- --- PASS FAM111B 374393 broad.mit.edu 37 11 58893299 58893299 + Missense_Mutation SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:58893299A>G uc001nnl.2 + 4 1972 c.1729A>G c.(1729-1731)ATT>GTT p.I577V FAM111B_uc001nnm.2_Missense_Mutation_p.I547V|FAM111B_uc010rko.1_Missense_Mutation_p.I547V NM_198947 NP_945185 Q6SJ93 F111B_HUMAN hypothetical protein LOC374393 isoform a 577 catalytic activity ovary(2) 2 GATTTATTTAATTGGTCATCC 0.363 9 42 --- --- --- --- PASS ZBTB3 79842 broad.mit.edu 37 11 62520528 62520528 + Silent SNP G A A rs148738930 TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:62520528G>A uc001nuz.2 - 2 881 c.759C>T c.(757-759)GAC>GAT p.D253D NM_024784 NP_079060 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 253 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 GATGTGGTGCGTCAACCTCCA 0.552 5 21 --- --- --- --- PASS RPS6KA4 8986 broad.mit.edu 37 11 64126861 64126861 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:64126861G>T uc001oae.2 + 2 150 c.67G>T c.(67-69)GGG>TGG p.G23W RPS6KA4_uc001oad.2_Missense_Mutation_p.G23W|RPS6KA4_uc010rnl.1_5'UTR|RPS6KA4_uc001oaf.2_Missense_Mutation_p.G23W|RPS6KA4_uc009ypp.2_Missense_Mutation_p.G23W NM_003942 NP_003933 O75676 KS6A4_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 23 axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity lung(3)|ovary(1)|breast(1) 5 CAACCTGACCGGGCACGAGGA 0.711 3 4 --- --- --- --- PASS MUS81 80198 broad.mit.edu 37 11 65632525 65632525 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:65632525G>T uc001ofv.3 + 13 1663 c.1310G>T c.(1309-1311)GGG>GTG p.G437V MUS81_uc001ofw.3_Intron|MUS81_uc001ofx.3_5'UTR NM_025128 NP_079404 Q96NY9 MUS81_HUMAN MUS81 endonuclease homolog 437 DNA recombination|DNA repair nucleolus 3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding 0 READ - Rectum adenocarcinoma(159;0.166) GGAACCCCTGGGAACCCTGAA 0.602 Homologous_recombination 6 151 --- --- --- --- PASS C2CD3 26005 broad.mit.edu 37 11 73768589 73768589 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:73768589C>A uc001ouu.2 - 25 5179 c.4952G>T c.(4951-4953)GGG>GTG p.G1651V C2CD3_uc001out.2_RNA NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1651 C2 2. centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) CAAGGGGCTCCCTGAAATAGA 0.458 6 60 --- --- --- --- PASS SFRS2B 10929 broad.mit.edu 37 11 94800939 94800939 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:94800939C>A uc001pff.2 + 2 885 c.550C>A c.(550-552)CGC>AGC p.R184S SFRS2B_uc001pfg.1_5'Flank NM_032102 NP_115285 Q9BRL6 SRSF8_HUMAN splicing factor, arginine/serine-rich 2B 184 Arg-rich. mRNA processing|RNA splicing nucleus nucleotide binding|RNA binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CAGGGAATCTCGCTACGGCGG 0.567 5 61 --- --- --- --- PASS DSCAML1 57453 broad.mit.edu 37 11 117321399 117321399 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:117321399C>T uc001prh.1 - 20 3756 c.3754G>A c.(3754-3756)GGT>AGT p.G1252S NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1192 Extracellular (Potential).|Fibronectin type-III 4. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GCAGGGGGACCTGGAACTGAG 0.567 4 22 --- --- --- --- PASS OR10S1 219873 broad.mit.edu 37 11 123848350 123848350 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:123848350G>A uc001pzm.1 - 1 49 c.49C>T c.(49-51)CCC>TCC p.P17S NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, 17 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GTCTGGTTGGGGTTCTCCGTT 0.478 42 18 --- --- --- --- PASS OR10G9 219870 broad.mit.edu 37 11 123893737 123893737 + Silent SNP C G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:123893737C>G uc010sad.1 + 1 18 c.18C>G c.(16-18)CTC>CTG p.L6L NM_001001953 NP_001001953 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, 6 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) AGACCAGCCTCGTGACAGCGT 0.532 61 38 --- --- --- --- PASS OR8D2 283160 broad.mit.edu 37 11 124189744 124189744 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:124189744G>T uc010sah.1 - 1 350 c.350C>A c.(349-351)GCC>GAC p.A117D NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|pancreas(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) ATATTCCATGGCTGTCAGAAG 0.403 9 45 --- --- --- --- PASS FLI1 2313 broad.mit.edu 37 11 128628020 128628020 + Nonsense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:128628020C>A uc010sbu.1 + 2 370 c.29C>A c.(28-30)TCG>TAG p.S10* FLI1_uc010sbt.1_5'UTR|FLI1_uc010sbv.1_5'UTR|FLI1_uc009zci.2_5'UTR|FLI1_uc001qen.2_5'UTR NM_002017 NP_002008 Q01543 FLI1_HUMAN Friend leukemia virus integration 1 10 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2266) bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2) 2273 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) GAGGCTCTGTCGGTGGTGAGC 0.612 T EWSR1 Ewing sarcoma 8 2 --- --- --- --- PASS SNX19 399979 broad.mit.edu 37 11 130781571 130781571 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr11:130781571C>A uc001qgk.3 - 2 2318 c.1770G>T c.(1768-1770)CAG>CAT p.Q590H SNX19_uc010sce.1_5'UTR|SNX19_uc010scf.1_Missense_Mutation_p.Q33H|SNX19_uc010scg.1_5'UTR|SNX19_uc001qgl.3_Missense_Mutation_p.Q590H|SNX19_uc009zcx.1_RNA NM_014758 NP_055573 Q92543 SNX19_HUMAN sorting nexin 19 590 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding ovary(2)|lung(2) 4 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) CCAGACGGGTCTGCAGATTCA 0.552 31 16 --- --- --- --- PASS WNK1 65125 broad.mit.edu 37 12 988914 988914 + Missense_Mutation SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:988914A>G uc001qio.3 + 11 3056 c.2549A>G c.(2548-2550)CAT>CGT p.H850R WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 850 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TCAACTCCTCATGTGTCTACG 0.537 53 53 --- --- --- --- PASS WNK1 65125 broad.mit.edu 37 12 1005592 1005592 + Missense_Mutation SNP C G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:1005592C>G uc001qio.3 + 24 6446 c.5939C>G c.(5938-5940)CCT>CGT p.P1980R WNK1_uc001qip.3_Missense_Mutation_p.P1732R|WNK1_uc001qir.3_Missense_Mutation_p.P1153R NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1980 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GCATCTCCTCCTTTTATGGAT 0.448 97 79 --- --- --- --- PASS PRMT8 56341 broad.mit.edu 37 12 3701428 3701428 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:3701428G>T uc001qmf.2 + 9 1378 c.1011G>T c.(1009-1011)CAG>CAT p.Q337H PRMT8_uc009zed.2_Missense_Mutation_p.Q328H|PRMT8_uc001qmg.2_Missense_Mutation_p.Q151H|PRMT8_uc001qmh.2_RNA NM_019854 NP_062828 Q9NR22 ANM8_HUMAN HMT1 hnRNP methyltransferase-like 4 337 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity ovary(3)|central_nervous_system(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) ACTGGAAGCAGACCGTCTTCT 0.537 88 81 --- --- --- --- PASS ANO2 57101 broad.mit.edu 37 12 5744332 5744332 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:5744332C>A uc001qnm.2 - 17 1874 c.1802G>T c.(1801-1803)TGG>TTG p.W601L NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 606 Cytoplasmic (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 TTTGGTGAGCCACTTGGCCAC 0.498 4 23 --- --- --- --- PASS GRIN2B 2904 broad.mit.edu 37 12 13717533 13717533 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:13717533C>T uc001rbt.2 - 13 2818 c.2639G>A c.(2638-2640)CGC>CAC p.R880H NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 880 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TACAGACTGGCGCTCCTCGAT 0.537 12 89 --- --- --- --- PASS GRIN2B 2904 broad.mit.edu 37 12 13768055 13768055 + Silent SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:13768055G>T uc001rbt.2 - 7 1826 c.1647C>A c.(1645-1647)GCC>GCA p.A549A NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 549 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TACCTAAGAAGGCAGAAGGTG 0.502 6 101 --- --- --- --- PASS PTPRO 5800 broad.mit.edu 37 12 15669838 15669838 + Missense_Mutation SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:15669838A>G uc001rcv.1 + 9 1901 c.1727A>G c.(1726-1728)GAG>GGG p.E576G PTPRO_uc001rcw.1_Missense_Mutation_p.E576G|PTPRO_uc001rcu.1_Missense_Mutation_p.E576G NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 576 Fibronectin type-III 6.|Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) ATGACATCAGAGTGGACCACC 0.448 14 84 --- --- --- --- PASS PIK3C2G 5288 broad.mit.edu 37 12 18691185 18691185 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:18691185G>T uc001rdt.2 + 24 3412 c.3296G>T c.(3295-3297)TGC>TTC p.C1099F PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.C1140F|PIK3C2G_uc010sic.1_Missense_Mutation_p.C918F NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 1099 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) GTGGAACTTTGCTGTCGTGCT 0.383 37 31 --- --- --- --- PASS PLEKHA5 54477 broad.mit.edu 37 12 19511295 19511295 + Missense_Mutation SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:19511295A>G uc001reb.2 + 21 2860 c.2774A>G c.(2773-2775)AAT>AGT p.N925S PLEKHA5_uc010sie.1_Missense_Mutation_p.N1086S|PLEKHA5_uc001rea.2_Missense_Mutation_p.N983S|PLEKHA5_uc009zin.2_Missense_Mutation_p.N683S|PLEKHA5_uc010sif.1_Missense_Mutation_p.N914S|PLEKHA5_uc010sig.1_Missense_Mutation_p.N907S|PLEKHA5_uc010sih.1_Missense_Mutation_p.N880S|PLEKHA5_uc001rec.1_Missense_Mutation_p.N734S|PLEKHA5_uc009zio.2_Missense_Mutation_p.N191S NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A 925 1-phosphatidylinositol binding|protein binding ovary(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) AAAGGGTTAAATGTTATCGGT 0.398 8 48 --- --- --- --- PASS PDE3A 5139 broad.mit.edu 37 12 20766412 20766412 + Silent SNP C G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:20766412C>G uc001reh.1 + 3 1069 c.1047C>G c.(1045-1047)GTC>GTG p.V349V NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 349 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding p.V349I(1) ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) ACATCGCCGTCATGGGCGAGG 0.522 9 60 --- --- --- --- PASS PDE3A 5139 broad.mit.edu 37 12 20766502 20766502 + Missense_Mutation SNP C G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:20766502C>G uc001reh.1 + 3 1159 c.1137C>G c.(1135-1137)AAC>AAG p.N379K NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 379 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CCGTGAGCAACTTGCTCAGCA 0.552 18 65 --- --- --- --- PASS SLCO1B3 28234 broad.mit.edu 37 12 21011372 21011372 + Splice_Site SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:21011372G>T uc001rek.2 + 4 353 c.227_splice c.e4-1 p.G76_splice SLCO1B3_uc001rel.2_Splice_Site_p.G76_splice|SLCO1B3_uc010sil.1_Splice_Site_p.G76_splice|LST-3TM12_uc010sim.1_Splice_Site_p.G76_splice NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) TTTTTTTCTAGGAAATTTGCT 0.274 17 10 --- --- --- --- PASS LST-3TM12 338821 broad.mit.edu 37 12 21207483 21207483 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:21207483G>T uc010sin.1 + 10 1454 c.1454G>T c.(1453-1455)AGG>ATG p.R485M SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.R532M NM_001009562 NP_001009562 Q71QF0 Q71QF0_HUMAN liver-specific organic anion transporter 3TM12 485 membrane transporter activity 0 GCTTGTACAAGGAAATCTTAC 0.393 25 15 --- --- --- --- PASS OVCH1 341350 broad.mit.edu 37 12 29648370 29648370 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:29648370G>A uc001rix.1 - 4 302 c.302C>T c.(301-303)ACT>ATT p.T101I NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 101 Peptidase S1 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) AGAAGTCACAGTTATATTCTT 0.368 11 37 --- --- --- --- PASS C12orf35 55196 broad.mit.edu 37 12 32137484 32137484 + Nonsense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:32137484G>T uc001rks.2 + 4 4009 c.3595G>T c.(3595-3597)GAG>TAG p.E1199* C12orf35_uc001rkt.2_5'Flank NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 1199 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) CTCATCTTCAGAGGAAGAGAA 0.418 15 59 --- --- --- --- PASS ABCD2 225 broad.mit.edu 37 12 40013232 40013232 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:40013232G>T uc001rmb.2 - 1 612 c.186C>A c.(184-186)AAC>AAA p.N62K NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 62 Interaction with PEX19. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1) 6 GTATTTCTGTGTTCTCTGCAG 0.448 12 54 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49425673 49425673 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:49425673C>T uc001rta.3 - 39 12815 c.12815G>A c.(12814-12816)GGC>GAC p.G4272D NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 4272 Pro-rich.|Gln-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CTGGAGGGGGCCTGTCTGTGG 0.687 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 6 8 --- --- --- --- PASS PRPH 5630 broad.mit.edu 37 12 49691473 49691473 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:49691473G>A uc001rtu.2 + 7 1306 c.1231G>A c.(1231-1233)GTC>ATC p.V411I NM_006262 NP_006253 P41219 PERI_HUMAN peripherin 411 Tail. structural molecule activity 0 CTCCGTGCCCGTCCATTCTTT 0.428 6 45 --- --- --- --- PASS KCNH3 23416 broad.mit.edu 37 12 49934881 49934881 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:49934881G>T uc001ruh.1 + 2 536 c.276G>T c.(274-276)GAG>GAT p.E92D KCNH3_uc010smj.1_Missense_Mutation_p.E32D NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H 92 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity 0 AGCACAAGGAGTTCAAGGCTG 0.632 12 13 --- --- --- --- PASS TMEM5 10329 broad.mit.edu 37 12 64199137 64199137 + Missense_Mutation SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:64199137G>C uc001srq.1 + 5 971 c.867G>C c.(865-867)TTG>TTC p.L289F TMEM5_uc001srr.1_Missense_Mutation_p.L186F|TMEM5_uc001srs.1_Missense_Mutation_p.L29F NM_014254 NP_055069 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 289 Extracellular (Potential). integral to plasma membrane 0 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) TGAACATTTTGAAAAAAGATG 0.358 12 59 --- --- --- --- PASS DYRK2 8445 broad.mit.edu 37 12 68051114 68051114 + Missense_Mutation SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:68051114A>G uc001str.3 + 3 829 c.427A>G c.(427-429)ATG>GTG p.M143V DYRK2_uc001sts.3_Missense_Mutation_p.M70V NM_006482 NP_006473 Q92630 DYRK2_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 143 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(2)|breast(1)|central_nervous_system(1) 4 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(7;0.000573) TCTAAAGTCCATGGAAGGCAT 0.527 8 10 --- --- --- --- PASS EEA1 8411 broad.mit.edu 37 12 93221723 93221723 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:93221723C>A uc001tck.2 - 12 1634 c.1369G>T c.(1369-1371)GAT>TAT p.D457Y NM_003566 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1, 162kD 457 Gln/Glu/Lys-rich.|Potential. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding ovary(2)|skin(1) 3 AGTTGTAAATCAGCCACTTGT 0.403 10 72 --- --- --- --- PASS ANO4 121601 broad.mit.edu 37 12 101514370 101514370 + Silent SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:101514370A>G uc010svm.1 + 26 3215 c.2643A>G c.(2641-2643)CTA>CTG p.L881L ANO4_uc001thw.2_Silent_p.L846L|ANO4_uc001thx.2_Silent_p.L881L|ANO4_uc001thy.2_Silent_p.L401L NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 881 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 GGCATGTCCTAGCTGCTCGAT 0.408 HNSCC(74;0.22) 9 13 --- --- --- --- PASS MYBPC1 4604 broad.mit.edu 37 12 102045125 102045125 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:102045125C>A uc001tii.2 + 14 1507 c.1405C>A c.(1405-1407)CTA>ATA p.L469I MYBPC1_uc001tif.1_Missense_Mutation_p.L482I|MYBPC1_uc001tig.2_Missense_Mutation_p.L494I|MYBPC1_uc010svq.1_Missense_Mutation_p.L456I|MYBPC1_uc001tih.2_Missense_Mutation_p.L494I|MYBPC1_uc001tij.2_Missense_Mutation_p.L469I|MYBPC1_uc010svr.1_Missense_Mutation_p.L469I|MYBPC1_uc010svs.1_Missense_Mutation_p.L469I|MYBPC1_uc010svt.1_Missense_Mutation_p.L457I|MYBPC1_uc010svu.1_Missense_Mutation_p.L450I|MYBPC1_uc001tik.2_Missense_Mutation_p.L443I NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 469 Ig-like C2-type 4. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 TAAAAATGGCCTACCTGTTCA 0.453 6 172 --- --- --- --- PASS HCFC2 29915 broad.mit.edu 37 12 104487333 104487333 + Missense_Mutation SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:104487333A>G uc001tkj.3 + 10 1557 c.1454A>G c.(1453-1455)AAA>AGA p.K485R HCFC2_uc009zul.2_RNA NM_013320 NP_037452 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 485 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity ovary(2)|central_nervous_system(1) 3 ATGCTAAGGAAAAATGAAGGT 0.318 7 34 --- --- --- --- PASS IFT81 28981 broad.mit.edu 37 12 110565897 110565897 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:110565897G>A uc001tqi.2 + 3 321 c.191G>A c.(190-192)CGA>CAA p.R64Q IFT81_uc001tqh.2_Missense_Mutation_p.R64Q|IFT81_uc001tqj.2_RNA|IFT81_uc001tqg.2_Missense_Mutation_p.R64Q NM_001143779 NP_001137251 Q8WYA0 IFT81_HUMAN intraflagellar transport 81-like isoform 1 64 cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum ovary(1) 1 ACAGCCAAACGAATGTTGAGC 0.343 6 51 --- --- --- --- PASS C12orf51 283450 broad.mit.edu 37 12 112673472 112673472 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:112673472C>T uc009zwc.2 - 29 4313 c.4295G>A c.(4294-4296)CGG>CAG p.R1432Q NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 CAGCGCCGCCCGGCACAGCTG 0.587 16 29 --- --- --- --- PASS OAS2 4939 broad.mit.edu 37 12 113435444 113435444 + Silent SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:113435444A>G uc001tuj.2 + 4 887 c.747A>G c.(745-747)AGA>AGG p.R249R OAS2_uc001tui.1_Silent_p.R249R NM_016817 NP_058197 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2 isoform 1 249 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding ovary(1) 1 AAGGCGTCAGAACCGTACTGG 0.498 8 28 --- --- --- --- PASS TMEM132D 121256 broad.mit.edu 37 12 130184572 130184572 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:130184572G>A uc009zyl.1 - 2 1079 c.751C>T c.(751-753)CGG>TGG p.R251W NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 251 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TGGCCTGTCCGGATCCCATTG 0.617 24 21 --- --- --- --- PASS POLE 5426 broad.mit.edu 37 12 133220500 133220500 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:133220500C>T uc001uks.1 - 33 4257 c.4213G>A c.(4213-4215)GAC>AAC p.D1405N POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.D209N|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.D1378N NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 1405 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) TGGTACATGTCCTCTGGCACT 0.537 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 15 55 --- --- --- --- PASS ATP8A2 51761 broad.mit.edu 37 13 26436473 26436473 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr13:26436473C>T uc001uqk.2 + 33 3252 c.3110C>T c.(3109-3111)ACC>ATC p.T1037I ATP8A2_uc010tdi.1_Missense_Mutation_p.T972I|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.T587I NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 997 Helical; (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) AGCATGCTGACCTGGCTGGTG 0.532 26 10 --- --- --- --- PASS SLC7A1 6541 broad.mit.edu 37 13 30091888 30091888 + Silent SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr13:30091888G>C uc001uso.2 - 10 1719 c.1332C>G c.(1330-1332)GCC>GCG p.A444A NM_003045 NP_003036 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid 444 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity 0 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CGGAAGTACTGGCCATCTGGT 0.502 6 41 --- --- --- --- PASS POSTN 10631 broad.mit.edu 37 13 38143490 38143490 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr13:38143490C>T uc001uwo.3 - 21 2496 c.2378G>A c.(2377-2379)GGT>GAT p.G793D POSTN_uc010tet.1_Missense_Mutation_p.G294D|POSTN_uc001uwp.3_Missense_Mutation_p.G736D|POSTN_uc001uwr.2_Intron|POSTN_uc001uwq.2_Intron|POSTN_uc010teu.1_Missense_Mutation_p.G766D|POSTN_uc010tev.1_Missense_Mutation_p.G706D|POSTN_uc010tew.1_Intron NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 793 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) ACCATCACCACCTTCAATGAA 0.363 23 11 --- --- --- --- PASS NHLRC3 387921 broad.mit.edu 37 13 39612853 39612853 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr13:39612853G>A uc001uxc.2 + 1 399 c.77G>A c.(76-78)GGC>GAC p.G26D C13orf23_uc001uwy.2_5'Flank|C13orf23_uc001uwz.2_5'Flank|NHLRC3_uc001uxa.1_Missense_Mutation_p.G26D|NHLRC3_uc001uxb.1_Missense_Mutation_p.G26D|NHLRC3_uc001uxd.2_Missense_Mutation_p.G26D|NHLRC3_uc001uxe.2_Intron NM_001012754 NP_001012772 Q5JS37 NHLC3_HUMAN NHL repeat containing 3 isoform a 26 extracellular region skin(1) 1 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128) CGTTTTTGTGGCTCTCCAGTG 0.587 14 43 --- --- --- --- PASS OR4M1 441670 broad.mit.edu 37 14 20249004 20249004 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr14:20249004G>A uc010tku.1 + 1 523 c.523G>A c.(523-525)GAC>AAC p.D175N NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 175 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CAATGAGTTAGACAGTTACTT 0.488 8 158 --- --- --- --- PASS OR4K1 79544 broad.mit.edu 37 14 20403995 20403995 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr14:20403995C>T uc001vwj.1 + 1 170 c.170C>T c.(169-171)TCT>TTT p.S57F NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, 57 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) CATTTGAACTCTCCTATGTAC 0.363 81 95 --- --- --- --- PASS SUPT16H 11198 broad.mit.edu 37 14 21831050 21831050 + Missense_Mutation SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr14:21831050T>C uc001wao.2 - 14 1907 c.1568A>G c.(1567-1569)CAT>CGT p.H523R NM_007192 NP_009123 Q9Y5B9 SP16H_HUMAN chromatin-specific transcription elongation 523 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding 0 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) TTCCCGAATATGTGGTTCCTT 0.408 54 40 --- --- --- --- PASS RNF31 55072 broad.mit.edu 37 14 24618034 24618034 + Missense_Mutation SNP C G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr14:24618034C>G uc001wmn.1 + 5 829 c.580C>G c.(580-582)CCC>GCC p.P194A PSME2_uc001wmj.2_5'Flank|PSME2_uc001wmk.2_5'Flank|RNF31_uc001wml.1_Missense_Mutation_p.P43A|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.P9A|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank NM_017999 NP_060469 Q96EP0 RNF31_HUMAN ring finger protein 31 194 Polyubiquitin-binding. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00861) AGAATTTGACCCCCTATTGAG 0.473 23 132 --- --- --- --- PASS SSTR1 6751 broad.mit.edu 37 14 38679162 38679162 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr14:38679162C>A uc001wul.1 + 3 1185 c.568C>A c.(568-570)CTG>ATG p.L190M SSTR1_uc010amu.1_Intron NM_001049 NP_001040 P30872 SSR1_HUMAN somatostatin receptor 1 190 Helical; Name=4; (Potential). digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity central_nervous_system(3)|ovary(1)|lung(1) 5 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) GCTCGTCATCCTGCCCATCGT 0.662 18 29 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42356638 42356638 + Silent SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr14:42356638T>C uc001wvm.2 + 3 2008 c.810T>C c.(808-810)ACT>ACC p.T270T LRFN5_uc010ana.2_Silent_p.T270T NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 270 Extracellular (Potential).|LRRCT. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CACTTTTAACTGGCCGCTACT 0.468 HNSCC(30;0.082) 15 90 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42356639 42356639 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr14:42356639G>T uc001wvm.2 + 3 2009 c.811G>T c.(811-813)GGC>TGC p.G271C LRFN5_uc010ana.2_Missense_Mutation_p.G271C NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 271 Extracellular (Potential).|LRRCT. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) ACTTTTAACTGGCCGCTACTT 0.473 HNSCC(30;0.082) 18 88 --- --- --- --- PASS FAM179B 23116 broad.mit.edu 37 14 45540921 45540921 + Missense_Mutation SNP A T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr14:45540921A>T uc001wvv.2 + 18 5026 c.4817A>T c.(4816-4818)TAC>TTC p.Y1606F FAM179B_uc001wvw.2_Missense_Mutation_p.Y1659F|FAM179B_uc010anc.2_RNA NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 1606 binding skin(2)|upper_aerodigestive_tract(1) 3 TTAGACAATTACTTACTTCTA 0.313 19 27 --- --- --- --- PASS ARID4A 5926 broad.mit.edu 37 14 58817845 58817845 + Nonsense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr14:58817845G>T uc001xdp.2 + 16 1713 c.1459G>T c.(1459-1461)GAG>TAG p.E487* ARID4A_uc001xdo.2_Nonsense_Mutation_p.E487*|ARID4A_uc001xdq.2_Nonsense_Mutation_p.E487*|ARID4A_uc010apg.1_Nonsense_Mutation_p.E165* NM_002892 NP_002883 P29374 ARI4A_HUMAN retinoblastoma-binding protein 1 isoform I 487 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|lung(1) 6 AATTGAAGAAGAGAAAACAGA 0.328 5 78 --- --- --- --- PASS DCAF4 26094 broad.mit.edu 37 14 73425438 73425438 + Silent SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr14:73425438G>T uc001xng.2 + 14 1633 c.1413G>T c.(1411-1413)CGG>CGT p.R471R DCAF4_uc001xnj.2_Silent_p.R465R|DCAF4_uc010ttr.1_Silent_p.R450R|DCAF4_uc001xnh.2_Silent_p.R371R|DCAF4_uc010tts.1_Silent_p.R411R|DCAF4_uc010ttt.1_Silent_p.R257R|DCAF4_uc001xni.2_Silent_p.R301R NM_015604 NP_056419 Q8WV16 DCAF4_HUMAN DDB1 and CUL4 associated factor 4 isoform 1 471 CUL4 RING ubiquitin ligase complex ovary(1)|central_nervous_system(1)|skin(1) 3 TCTCGTCGCGGCTGGGGGGCT 0.647 14 37 --- --- --- --- PASS C14orf115 55237 broad.mit.edu 37 14 74824319 74824319 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr14:74824319C>A uc001xpw.3 + 2 1024 c.833C>A c.(832-834)CCT>CAT p.P278H NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN hypothetical protein LOC55237 278 transposition, DNA-mediated DNA binding|transposase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00147) AACCGTGAACCTGGCCTCAGC 0.652 25 17 --- --- --- --- PASS KIAA1737 85457 broad.mit.edu 37 14 77580133 77580133 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr14:77580133G>T uc001xtd.2 + 4 851 c.672G>T c.(670-672)GAG>GAT p.E224D KIAA1737_uc001xtc.1_Missense_Mutation_p.E126D NM_033426 NP_219494 Q9C0C6 K1737_HUMAN KIAA1737 protein 224 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0284) AACTTGCCGAGGACTCAGCTC 0.602 5 58 --- --- --- --- PASS FLRT2 23768 broad.mit.edu 37 14 86088550 86088550 + Missense_Mutation SNP A T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr14:86088550A>T uc001xvr.2 + 2 1459 c.692A>T c.(691-693)AAG>ATG p.K231M FLRT2_uc010atd.2_Missense_Mutation_p.K231M NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 231 Extracellular (Potential).|LRR 8. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) CATCTCACCAAGCTCAAGGAA 0.522 16 90 --- --- --- --- PASS PPP4R4 57718 broad.mit.edu 37 14 94712742 94712742 + Silent SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr14:94712742C>A uc001ycs.1 + 14 1631 c.1477C>A c.(1477-1479)CGA>AGA p.R493R NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN HEAT-like repeat-containing protein isoform 1 493 cytoplasm|protein serine/threonine phosphatase complex protein binding skin(3)|upper_aerodigestive_tract(1) 4 TGCTGAACAGCGAGCTGCAGC 0.403 15 45 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 107113932 107113932 + RNA SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr14:107113932G>T uc010tyt.1 - 84 c.3941C>A Parts of antibodies, mostly variable regions. 0 CGGACCCAGTGCATAGCATAG 0.547 71 179 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 107113933 107113933 + RNA SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr14:107113933C>T uc010tyt.1 - 84 c.3940G>A Parts of antibodies, mostly variable regions. 0 GGACCCAGTGCATAGCATAGC 0.547 69 179 --- --- --- --- PASS GABRB3 2562 broad.mit.edu 37 15 26812801 26812801 + Silent SNP A T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr15:26812801A>T uc001zaz.2 - 7 904 c.762T>A c.(760-762)TCT>TCA p.S254S GABRB3_uc010uae.1_Silent_p.S169S|GABRB3_uc001zba.2_Silent_p.S254S|GABRB3_uc001zbb.2_Silent_p.S310S NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 254 Helical; (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TTATCAGTATAGAGGGCATAT 0.423 19 35 --- --- --- --- PASS SLC27A2 11001 broad.mit.edu 37 15 50526174 50526174 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr15:50526174G>T uc001zxw.2 + 9 1897 c.1665G>T c.(1663-1665)AGG>AGT p.R555S SLC27A2_uc010bes.2_Missense_Mutation_p.R502S|SLC27A2_uc001zxx.2_Missense_Mutation_p.R320S NM_003645 NP_003636 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid 555 Cytoplasmic (Potential). bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity ovary(1)|skin(1) 2 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) GTTATGCAAGGCCCCGGTTTC 0.433 39 16 --- --- --- --- PASS CCPG1 9236 broad.mit.edu 37 15 55652654 55652654 + Silent SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr15:55652654G>T uc002acv.1 - 8 1482 c.1317C>A c.(1315-1317)ACC>ACA p.T439T CCPG1_uc002acy.2_Silent_p.T439T|CCPG1_uc002acu.1_Silent_p.T295T|CCPG1_uc002acw.1_Silent_p.T164T|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Silent_p.T439T|CCPG1_uc002acz.1_Silent_p.T439T NM_020739 NP_065790 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 isoform 2 439 Potential.|Lumenal (Potential). cell cycle integral to membrane ovary(1) 1 all cancers(107;0.0354) GCTGTTCGAAGGTTAGCTTCC 0.413 7 142 --- --- --- --- PASS FAM81A 145773 broad.mit.edu 37 15 59752205 59752205 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr15:59752205C>A uc002agc.2 + 3 281 c.94C>A c.(94-96)CAG>AAG p.Q32K FAM81A_uc010uha.1_Missense_Mutation_p.Q32K NM_152450 NP_689663 Q8TBF8 FA81A_HUMAN hypothetical protein LOC145773 32 ovary(1) 1 CCTCGTGGAGCAGCTGGAAGA 0.532 14 27 --- --- --- --- PASS HCN4 10021 broad.mit.edu 37 15 73624553 73624553 + Missense_Mutation SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr15:73624553G>C uc002avp.2 - 3 2284 c.1290C>G c.(1288-1290)CAC>CAG p.H430Q NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 430 Helical; Name=Segment S5; (Potential). blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) AGCCGTCCCAGTGGCAGAGCA 0.612 3 32 --- --- --- --- PASS C15orf27 123591 broad.mit.edu 37 15 76449078 76449078 + Missense_Mutation SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr15:76449078A>G uc002bbq.2 + 4 516 c.361A>G c.(361-363)ATA>GTA p.I121V C15orf27_uc010bkp.2_Intron|C15orf27_uc002bbr.2_Intron NM_152335 NP_689548 Q2M3C6 CO027_HUMAN hypothetical protein LOC123591 121 Helical; (Potential). integral to membrane 0 GGAACTTCTAATAGATATAAA 0.433 9 34 --- --- --- --- PASS TM6SF1 53346 broad.mit.edu 37 15 83795599 83795599 + Missense_Mutation SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr15:83795599G>C uc002bjp.2 + 8 910 c.801G>C c.(799-801)CAG>CAC p.Q267H TM6SF1_uc010bmq.2_Intron|TM6SF1_uc002bjq.2_Intron|TM6SF1_uc010bmr.2_Intron|TM6SF1_uc002bjr.2_Missense_Mutation_p.Q119H NM_023003 NP_075379 Q9BZW5 TM6S1_HUMAN transmembrane 6 superfamily member 1 isoform 1 267 Helical; (Potential). integral to membrane ovary(1) 1 CTAAAATTCAGGTCAAGTAGT 0.299 33 104 --- --- --- --- PASS AGBL1 123624 broad.mit.edu 37 15 86800204 86800204 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr15:86800204G>T uc002blz.1 + 7 798 c.718G>T c.(718-720)GTC>TTC p.V240F NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 240 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 TGCCTTCCCGGTCCCCGGGTG 0.507 8 56 --- --- --- --- PASS OR4F6 390648 broad.mit.edu 37 15 102346508 102346508 + Missense_Mutation SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr15:102346508G>C uc010utr.1 + 1 586 c.586G>C c.(586-588)GGA>CGA p.G196R NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, 196 Helical; Name=5; (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) CTACACATTGGGATTCATGGT 0.358 38 159 --- --- --- --- PASS CCNF 899 broad.mit.edu 37 16 2505515 2505515 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr16:2505515G>T uc002cqd.1 + 16 1923 c.1835G>T c.(1834-1836)TGC>TTC p.C612F CCNF_uc002cqe.1_Missense_Mutation_p.C304F NM_001761 NP_001752 P41002 CCNF_HUMAN cyclin F 612 PEST. cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding central_nervous_system(1)|kidney(1) 2 Ovarian(90;0.17) CTGGACTGCTGCTCTGGCTAT 0.642 3 10 --- --- --- --- PASS CREBBP 1387 broad.mit.edu 37 16 3900926 3900926 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr16:3900926C>A uc002cvv.2 - 2 374 c.170G>T c.(169-171)GGG>GTG p.G57V CREBBP_uc002cvw.2_Missense_Mutation_p.G57V NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 57 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) AACAAGGTTCCCACTGTTTAA 0.428 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 6 56 --- --- --- --- PASS SRL 6345 broad.mit.edu 37 16 4247818 4247818 + Missense_Mutation SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr16:4247818G>C uc002cvz.3 - 4 371 c.358C>G c.(358-360)CGC>GGC p.R120G SRL_uc002cvy.3_RNA NM_001098814 NP_001092284 Q86TD4 SRCA_HUMAN sarcalumenin 579 sarcoplasmic reticulum lumen GTP binding|GTPase activity ovary(3)|skin(2) 5 AGCTGATAGCGAGTATTTTCC 0.383 30 16 --- --- --- --- PASS CPPED1 55313 broad.mit.edu 37 16 12758807 12758807 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr16:12758807C>A uc002dca.3 - 4 992 c.881G>T c.(880-882)AGT>ATT p.S294I CPPED1_uc002dcb.3_Missense_Mutation_p.S152I|CPPED1_uc002dbz.3_RNA NM_018340 NP_060810 Q9BRF8 CPPED_HUMAN calcineurin-like phosphoesterase domain 294 hydrolase activity|metal ion binding 0 CTCATCTAGACTGTAGTATCG 0.507 12 51 --- --- --- --- PASS MYH11 4629 broad.mit.edu 37 16 15814079 15814079 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr16:15814079C>T uc002ddy.2 - 34 4989 c.4882G>A c.(4882-4884)GAC>AAC p.D1628N MYH11_uc002ddv.2_Missense_Mutation_p.D1635N|MYH11_uc002ddw.2_Missense_Mutation_p.D1628N|MYH11_uc002ddx.2_Missense_Mutation_p.D1635N|MYH11_uc010bvg.2_Missense_Mutation_p.D1460N|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.D334N|NDE1_uc002ddz.1_5'Flank NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 1628 Potential. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 AGCTCCAGGTCTTTCAGGTCC 0.587 T CBFB AML 6 48 --- --- --- --- PASS XPO6 23214 broad.mit.edu 37 16 28109925 28109925 + Silent SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr16:28109925C>A uc002dpa.1 - 24 3813 c.3312G>T c.(3310-3312)CTG>CTT p.L1104L XPO6_uc002dpb.1_Silent_p.L1090L|XPO6_uc010vcp.1_Silent_p.L1103L NM_015171 NP_055986 Q96QU8 XPO6_HUMAN exportin 6 1104 protein export from nucleus protein binding|protein transporter activity ovary(1)|skin(1) 2 GGTCGTTGACCAGCCTGTGCA 0.607 16 8 --- --- --- --- PASS SULT1A1 6817 broad.mit.edu 37 16 28619685 28619685 + Missense_Mutation SNP G A A rs142537541 TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr16:28619685G>A uc002dqi.2 - 3 772 c.299C>T c.(298-300)CCG>CTG p.P100L uc010vct.1_Intron|SULT1A1_uc002dqj.2_Missense_Mutation_p.P100L|SULT1A1_uc002dqk.2_Missense_Mutation_p.P100L|SULT1A1_uc002dql.2_Missense_Mutation_p.P100L|SULT1A1_uc002dqm.2_Intron|SULT1A1_uc002dqn.2_Missense_Mutation_p.P191L|SULT1A1_uc002dqo.2_Missense_Mutation_p.P100L|SULT1A1_uc002dqp.2_Missense_Mutation_p.P100L NM_177534 NP_803878 P50225 ST1A1_HUMAN sulfotransferase family, cytosolic, 1A, 100 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity 0 TCGTGGGGCCGGTGTGTCTTT 0.537 21 73 --- --- --- --- PASS SEZ6L2 26470 broad.mit.edu 37 16 29888689 29888689 + Silent SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr16:29888689G>A uc002duq.3 - 11 2052 c.1812C>T c.(1810-1812)CGC>CGT p.R604R uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Silent_p.R534R|SEZ6L2_uc002dur.3_Silent_p.R534R|SEZ6L2_uc002dus.3_Silent_p.R490R|SEZ6L2_uc010vec.1_Silent_p.R604R|SEZ6L2_uc010ved.1_Silent_p.R560R NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform 604 CUB 3.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 AGGAGAGAAGGCGGCGGCGCG 0.662 6 0 --- --- --- --- PASS SETD1A 9739 broad.mit.edu 37 16 30975589 30975589 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr16:30975589C>T uc002ead.1 + 6 1500 c.814C>T c.(814-816)CCC>TCC p.P272S SETD1A_uc002eae.1_Missense_Mutation_p.P272S NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 272 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 CCAAGGAACCCCCTACACGTC 0.632 10 35 --- --- --- --- PASS CDH16 1014 broad.mit.edu 37 16 66950320 66950320 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr16:66950320G>A uc002eql.2 - 4 215 c.142C>T c.(142-144)CGT>TGT p.R48C CDH16_uc010cdy.2_Missense_Mutation_p.R48C|CDH16_uc002eqm.2_Missense_Mutation_p.R48C NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 48 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GCCCCCTCACGGGGCAGCGGC 0.552 7 18 --- --- --- --- PASS HYDIN 54768 broad.mit.edu 37 16 71103239 71103239 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr16:71103239C>T uc002ezr.2 - 14 2033 c.1905G>A c.(1903-1905)ATG>ATA p.M635I HYDIN_uc010cfz.1_Missense_Mutation_p.M380I|HYDIN_uc002ezv.2_Missense_Mutation_p.M635I|HYDIN_uc010vmc.1_Missense_Mutation_p.M652I|HYDIN_uc010vmd.1_Missense_Mutation_p.M662I|HYDIN_uc002ezw.3_Missense_Mutation_p.M652I NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 635 ovary(1)|skin(1) 2 Ovarian(137;0.0654) CTTTTGGTTTCATTGAGGATA 0.483 8 54 --- --- --- --- PASS PMFBP1 83449 broad.mit.edu 37 16 72159293 72159293 + Silent SNP C G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr16:72159293C>G uc002fcc.3 - 16 2452 c.2280G>C c.(2278-2280)GTG>GTC p.V760V PMFBP1_uc002fcd.2_Silent_p.V755V|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Silent_p.V610V|PMFBP1_uc010cgo.1_Silent_p.V51V NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 760 ovary(2) 2 Ovarian(137;0.179) TCTCTGAGGTCACGTGATTGA 0.488 OREG0023927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 93 --- --- --- --- PASS RFWD3 55159 broad.mit.edu 37 16 74666541 74666541 + Missense_Mutation SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr16:74666541T>C uc002fda.2 - 9 1555 c.1457A>G c.(1456-1458)AAC>AGC p.N486S RFWD3_uc010vmx.1_Missense_Mutation_p.N6S|RFWD3_uc010cgq.2_Missense_Mutation_p.N486S NM_018124 NP_060594 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 486 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding lung(2)|breast(1) 3 GCTCTTCATGTTGGCAGTACT 0.433 6 28 --- --- --- --- PASS VAT1L 57687 broad.mit.edu 37 16 77850871 77850871 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr16:77850871C>T uc002ffg.1 + 2 384 c.287C>T c.(286-288)CCC>CTC p.P96L NM_020927 NP_065978 Q9HCJ6 VAT1L_HUMAN vesicle amine transport protein 1 homolog (T. 96 oxidoreductase activity|zinc ion binding central_nervous_system(1) 1 GACAACCCTCCCAAGACTCCC 0.438 11 56 --- --- --- --- PASS LRRC50 123872 broad.mit.edu 37 16 84188191 84188191 + Missense_Mutation SNP G A A rs34897947 TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr16:84188191G>A uc002fhl.3 + 4 543 c.362G>A c.(361-363)CGC>CAC p.R121H LRRC50_uc010chi.1_RNA NM_178452 NP_848547 Q8NEP3 DAAF1_HUMAN leucine rich repeat containing 50 121 LRR 1. axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding 0 GGTTTTGATCGCATTGAGAAC 0.478 Kartagener_syndrome 5 30 --- --- --- --- PASS FOXF1 2294 broad.mit.edu 37 16 86544553 86544553 + Silent SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr16:86544553G>C uc002fjl.2 + 1 421 c.378G>C c.(376-378)CCG>CCC p.P126P uc002fjk.1_5'Flank NM_001451 NP_001442 Q12946 FOXF1_HUMAN forkhead box F1 126 Fork-head. branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding 0 CCATCGACCCGGCCAGCGAGT 0.632 28 21 --- --- --- --- PASS ZNF778 197320 broad.mit.edu 37 16 89294627 89294627 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr16:89294627C>A uc002fmv.2 + 6 2186 c.1847C>A c.(1846-1848)CCC>CAC p.P616H ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Missense_Mutation_p.P574H|ZNF778_uc010vpg.1_Missense_Mutation_p.P379H NM_182531 NP_872337 Q96MU6 ZN778_HUMAN zinc finger protein 778 616 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0269) GGTGAGAAACCCTACATATGT 0.463 19 70 --- --- --- --- PASS RAP1GAP2 23108 broad.mit.edu 37 17 2866729 2866729 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr17:2866729C>A uc010ckd.2 + 6 342 c.252C>A c.(250-252)GAC>GAA p.D84E RAP1GAP2_uc010cke.2_Missense_Mutation_p.D69E NM_015085 NP_055900 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 isoform 1 84 regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity ovary(1) 1 TGCAGGACGACTATATCCCAT 0.587 25 69 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577046 7577046 + Nonsense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr17:7577046C>A uc002gim.2 - 8 1086 c.892G>T c.(892-894)GAG>TAG p.E298* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E298*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E166*|TP53_uc010cng.1_Nonsense_Mutation_p.E166*|TP53_uc002gii.1_Nonsense_Mutation_p.E166*|TP53_uc010cnh.1_Nonsense_Mutation_p.E298*|TP53_uc010cni.1_Nonsense_Mutation_p.E298*|TP53_uc002gij.2_Nonsense_Mutation_p.E298* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 298 Interaction with HIPK1 (By similarity). E -> V (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E298*(35)|p.0?(7)|p.E298K(2)|p.?(2)|p.E298V(2)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298A(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298fs*47(1)|p.E298E(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGGGGCAGCTCGTGGTGAGGC 0.567 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 20 12 --- --- --- --- PASS CNTROB 116840 broad.mit.edu 37 17 7840130 7840130 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr17:7840130C>A uc002gjq.2 + 7 1742 c.823C>A c.(823-825)CAG>AAG p.Q275K CNTROB_uc002gjp.2_Missense_Mutation_p.Q275K|CNTROB_uc002gjr.2_Missense_Mutation_p.Q177K|CNTROB_uc010vum.1_5'Flank NM_053051 NP_444279 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 275 Potential. centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1) 2 Prostate(122;0.173) AAGCAAGCAGCAGGAGGTGAG 0.547 21 10 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10426947 10426947 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr17:10426947C>A uc010coi.2 - 37 5466 c.5338G>T c.(5338-5340)GAC>TAC p.D1780Y uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.D1780Y|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1780 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 GCGCTGGTGTCCTGCTCCTTC 0.507 34 25 --- --- --- --- PASS FAM83G 644815 broad.mit.edu 37 17 18891670 18891670 + Missense_Mutation SNP C G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr17:18891670C>G uc002guw.2 - 3 747 c.580G>C c.(580-582)GAC>CAC p.D194H SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron NM_001039999 NP_001035088 A6ND36 FA83G_HUMAN hypothetical protein LOC644815 194 ovary(1)|central_nervous_system(1) 2 AAGCCGGCGTCCAGCAGGTCC 0.557 7 84 --- --- --- --- PASS ATAD5 79915 broad.mit.edu 37 17 29162409 29162409 + Missense_Mutation SNP T A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr17:29162409T>A uc002hfs.1 + 2 1656 c.1310T>A c.(1309-1311)GTA>GAA p.V437E ATAD5_uc002hft.1_Missense_Mutation_p.V334E NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 437 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) CTATATGAAGTAGGAAGAGAT 0.313 30 44 --- --- --- --- PASS MYO1D 4642 broad.mit.edu 37 17 31098203 31098203 + Silent SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr17:31098203A>G uc002hho.1 - 6 666 c.654T>C c.(652-654)TCT>TCC p.S218S MYO1D_uc002hhp.1_Silent_p.S218S|MYO1D_uc010wcb.1_Silent_p.S218S NM_015194 NP_056009 O94832 MYO1D_HUMAN myosin ID 218 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(9;0.0362) GGAGATGTAGAGAGCGTAGCA 0.363 5 37 --- --- --- --- PASS NLE1 54475 broad.mit.edu 37 17 33463218 33463218 + Silent SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr17:33463218C>T uc002hiy.1 - 9 1009 c.981G>A c.(979-981)GAG>GAA p.E327E NLE1_uc010ctn.1_Silent_p.E35E|NLE1_uc002hiz.1_Silent_p.E35E NM_018096 NP_060566 Q9NVX2 NLE1_HUMAN Notchless gene homolog isoform a 327 WD 5. nucleolus breast(3)|ovary(1) 4 Ovarian(249;0.17) TCAGAGCCCTCTCCTTCAACT 0.537 10 177 --- --- --- --- PASS PEX12 5193 broad.mit.edu 37 17 33904432 33904432 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr17:33904432C>A uc002hjp.2 - 2 921 c.305G>T c.(304-306)AGA>ATA p.R102I NM_000286 NP_000277 O00623 PEX12_HUMAN peroxisomal biogenesis factor 12 102 Cytoplasmic (Potential). protein import into peroxisome matrix integral to peroxisomal membrane protein C-terminus binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ACTAGCCAATCTCTGAGACTT 0.438 74 106 --- --- --- --- PASS KRTAP9-2 83899 broad.mit.edu 37 17 39382974 39382974 + Missense_Mutation SNP G T T rs149082553 byFrequency TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr17:39382974G>T uc002hwf.2 + 1 75 c.68G>T c.(67-69)TGC>TTC p.C23F NM_031961 NP_114167 Q9BYQ4 KRA92_HUMAN keratin associated protein 9.2 23 17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP]. keratin filament protein binding p.C23*(1) upper_aerodigestive_tract(1) 1 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) AGGACCACCTGCTGGAAGCCC 0.647 5 79 --- --- --- --- PASS KRTAP9-4 85280 broad.mit.edu 37 17 39406040 39406040 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr17:39406040G>T uc002hwi.2 + 1 102 c.68G>T c.(67-69)TGC>TTC p.C23F KRTAP9-9_uc010wfq.1_Intron NM_033191 NP_149461 Q9BYQ2 KRA94_HUMAN keratin associated protein 9-4 23 15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) AGGACCACCTGCTGGAAGCCC 0.627 27 63 --- --- --- --- PASS KRT32 3882 broad.mit.edu 37 17 39623327 39623327 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr17:39623327C>T uc002hwr.2 - 1 312 c.251G>A c.(250-252)GGC>GAC p.G84D NM_002278 NP_002269 Q14532 K1H2_HUMAN keratin 32 84 Head. epidermis development intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000812) GTACCAGCTGCCGGGGCCCAT 0.622 6 38 --- --- --- --- PASS FKBP10 60681 broad.mit.edu 37 17 39974690 39974690 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr17:39974690G>A uc002hxv.2 + 4 963 c.638G>A c.(637-639)GGC>GAC p.G213D FKBP10_uc002hxw.1_5'Flank NM_021939 NP_068758 Q96AY3 FKB10_HUMAN FK506 binding protein 10 precursor 213 PPIase FKBP-type 2. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 Breast(137;0.00122) BRCA - Breast invasive adenocarcinoma(366;0.148) CTGATCAAGGGCATGGACCAG 0.587 18 24 --- --- --- --- PASS GPATCH8 23131 broad.mit.edu 37 17 42478425 42478425 + Silent SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr17:42478425G>A uc002igw.1 - 8 1084 c.1020C>T c.(1018-1020)GAC>GAT p.D340D GPATCH8_uc002igv.1_Silent_p.D262D|GPATCH8_uc010wiz.1_Silent_p.D262D NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 340 intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GCAGTCCTTGGTCAGAACTCT 0.483 OREG0024461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 54 56 --- --- --- --- PASS CDC27 996 broad.mit.edu 37 17 45219266 45219266 + Silent SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr17:45219266G>A uc002ild.3 - 12 1631 c.1504C>T c.(1504-1506)CTG>TTG p.L502L CDC27_uc002ile.3_Silent_p.L508L|CDC27_uc002ilf.3_Silent_p.L501L|CDC27_uc010wkp.1_Silent_p.L441L|CDC27_uc010wkq.1_Intron NM_001256 NP_001247 P30260 CDC27_HUMAN cell division cycle protein 27 isoform 2 502 TPR 3. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|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|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding lung(2)|breast(2)|ovary(1) 5 ATTTGGCACAGTACCCAACCA 0.348 8 172 --- --- --- --- PASS PDK2 5164 broad.mit.edu 37 17 48185764 48185764 + Nonsense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr17:48185764G>T uc002iqc.2 + 8 948 c.844G>T c.(844-846)GAA>TAA p.E282* PDK2_uc002iqb.2_Nonsense_Mutation_p.E218* NM_002611 NP_002602 Q15119 PDK2_HUMAN pyruvate dehydrogenase kinase 2 precursor 282 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|nucleus ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity central_nervous_system(3) 3 CTTGGGTGAGGAAGATCTGTC 0.577 Autosomal_Dominant_Polycystic_Kidney_Disease 7 19 --- --- --- --- PASS OR4D2 124538 broad.mit.edu 37 17 56247070 56247070 + Silent SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr17:56247070G>A uc010wnp.1 + 1 54 c.54G>A c.(52-54)TCG>TCA p.S18S NM_001004707 NP_001004707 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, 18 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 TGGGGCTCTCGCAGACTCGGG 0.468 42 56 --- --- --- --- PASS EPX 8288 broad.mit.edu 37 17 56270463 56270463 + Silent SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr17:56270463G>A uc002ivq.2 + 2 227 c.141G>A c.(139-141)GTG>GTA p.V47V NM_000502 NP_000493 P11678 PERE_HUMAN eosinophil peroxidase preproprotein 47 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding ovary(2) 2 AGTTGCTGGTGGATGCTGCCT 0.607 24 49 --- --- --- --- PASS MTMR4 9110 broad.mit.edu 37 17 56573053 56573053 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr17:56573053G>A uc002iwj.2 - 16 2560 c.2450C>T c.(2449-2451)CCA>CTA p.P817L NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 817 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity skin(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGCACTCGGTGGGTTGCAAAC 0.562 13 61 --- --- --- --- PASS CLTC 1213 broad.mit.edu 37 17 57743957 57743957 + Silent SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr17:57743957A>G uc002ixq.1 + 12 2342 c.1899A>G c.(1897-1899)TTA>TTG p.L633L CLTC_uc002ixp.2_Silent_p.L633L|CLTC_uc002ixr.1_Silent_p.L637L NM_004859 NP_004850 Q00610 CLH1_HUMAN clathrin heavy chain 1 633 Heavy chain arm.|Distal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1) 48 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) TCACTGATTTATATGATATAA 0.398 T ALK|TFE3 ALCL|renal 20 26 --- --- --- --- PASS RNFT1 51136 broad.mit.edu 37 17 58040613 58040613 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr17:58040613G>A uc002iya.2 - 2 182 c.89C>T c.(88-90)TCA>TTA p.S30L uc002iye.1_5'Flank|RNFT1_uc002iyb.2_RNA|RNFT1_uc002iyc.2_5'UTR|RNFT1_uc010wop.1_Missense_Mutation_p.S30L|RNFT1_uc002iyd.3_Missense_Mutation_p.S30L NM_016125 NP_057209 Q5M7Z0 RNFT1_HUMAN PTD016 protein 30 integral to membrane zinc ion binding 0 all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;7.95e-12)|all cancers(12;1.34e-10) CTTTTTCTCTGACCCAGATGT 0.443 17 73 --- --- --- --- PASS ABCA6 23460 broad.mit.edu 37 17 67077276 67077276 + Missense_Mutation SNP A T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr17:67077276A>T uc002jhw.1 - 37 4802 c.4627T>A c.(4627-4629)TTG>ATG p.L1543M NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 1543 transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) TAGGTTAACAAAGAGGAATAC 0.373 13 57 --- --- --- --- PASS RHBDF2 79651 broad.mit.edu 37 17 74473789 74473789 + Nonsense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr17:74473789C>A uc002jrq.1 - 7 1131 c.838G>T c.(838-840)GAG>TAG p.E280* RHBDF2_uc002jrp.1_Nonsense_Mutation_p.E251*|RHBDF2_uc002jrr.1_Nonsense_Mutation_p.E132*|RHBDF2_uc010wtf.1_Nonsense_Mutation_p.E251*|RHBDF2_uc002jrs.1_Nonsense_Mutation_p.E275* NM_024599 NP_078875 Q6PJF5 RHDF2_HUMAN rhomboid, veinlet-like 6 isoform 1 280 Cytoplasmic (Potential). negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity 0 ACCACATCCTCCTCCAGGAAG 0.637 6 91 --- --- --- --- PASS ENGASE 64772 broad.mit.edu 37 17 77082341 77082341 + Silent SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr17:77082341A>G uc002jwv.2 + 14 2150 c.2142A>G c.(2140-2142)GAA>GAG p.E714E ENGASE_uc002jww.2_Silent_p.E419E NM_001042573 NP_001036038 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 714 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity skin(1) 1 GTCGCATGGAATTTCTGGTGG 0.617 8 20 --- --- --- --- PASS ZNF750 79755 broad.mit.edu 37 17 80790192 80790192 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr17:80790192C>A uc002kga.2 - 2 450 c.139G>T c.(139-141)GGT>TGT p.G47C TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 47 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TTACAAAGACCATACTTCATG 0.423 5 94 --- --- --- --- PASS COLEC12 81035 broad.mit.edu 37 18 346412 346412 + Missense_Mutation SNP C G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr18:346412C>G uc002kkm.2 - 5 1425 c.1210G>C c.(1210-1212)GAT>CAT p.D404H NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 404 Extracellular (Potential). carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) CTCATCAAATCTTGTTGCATC 0.428 14 75 --- --- --- --- PASS MYOM1 8736 broad.mit.edu 37 18 3189056 3189056 + Missense_Mutation SNP G A A rs140845661 by1000genomes TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr18:3189056G>A uc002klp.2 - 4 795 c.461C>T c.(460-462)ACG>ATG p.T154M MYOM1_uc002klq.2_Missense_Mutation_p.T154M NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 154 striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 TTCTTCTTCCGTATCAGTAAT 0.383 12 109 --- --- --- --- PASS APCDD1 147495 broad.mit.edu 37 18 10485545 10485545 + Silent SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr18:10485545G>C uc002kom.3 + 4 1215 c.861G>C c.(859-861)CTG>CTC p.L287L NM_153000 NP_694545 Q8J025 APCD1_HUMAN adenomatosis polyposis coli down-regulated 1 287 Extracellular (Potential). hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding 0 READ - Rectum adenocarcinoma(15;0.08) AGGCAGACCTGACCATCGGCC 0.597 7 46 --- --- --- --- PASS DSC3 1825 broad.mit.edu 37 18 28612167 28612167 + Missense_Mutation SNP T G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr18:28612167T>G uc002kwj.3 - 2 300 c.145A>C c.(145-147)ATT>CTT p.I49L DSC3_uc002kwi.3_Missense_Mutation_p.I49L NM_001941 NP_001932 Q14574 DSC3_HUMAN desmocollin 3 isoform Dsc3a preproprotein 49 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding ovary(2)|skin(2) 4 OV - Ovarian serous cystadenocarcinoma(10;0.125) CCTCTGCCAATTATTTTGTCT 0.343 8 26 --- --- --- --- PASS KIAA1012 22878 broad.mit.edu 37 18 29487430 29487430 + Missense_Mutation SNP C G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr18:29487430C>G uc002kxc.3 - 9 1746 c.1382G>C c.(1381-1383)GGT>GCT p.G461A KIAA1012_uc002kxb.3_Missense_Mutation_p.G407A|KIAA1012_uc002kxd.3_RNA|KIAA1012_uc002kxe.2_Missense_Mutation_p.G461A NM_014939 NP_055754 Q9Y2L5 TPPC8_HUMAN hypothetical protein LOC22878 461 ER to Golgi vesicle-mediated transport cis-Golgi network 0 AACCAAGGCACCAGCTGCATA 0.338 6 75 --- --- --- --- PASS ASXL3 80816 broad.mit.edu 37 18 31324142 31324142 + Silent SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr18:31324142C>A uc010dmg.1 + 12 4385 c.4330C>A c.(4330-4332)CGA>AGA p.R1444R ASXL3_uc002kxq.2_Silent_p.R1151R NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1444 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 TTCAGGGCCTCGAAACAGGGC 0.468 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 190 --- --- --- --- PASS NOL4 8715 broad.mit.edu 37 18 31432874 31432874 + Silent SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr18:31432874G>T uc010dmi.2 - 11 2078 c.1849C>A c.(1849-1851)CGA>AGA p.R617R NOL4_uc010xbs.1_Silent_p.R332R|NOL4_uc002kxr.3_Silent_p.R389R|NOL4_uc010xbt.1_Silent_p.R543R|NOL4_uc010dmh.2_Silent_p.R479R|NOL4_uc010xbu.1_Silent_p.R553R|NOL4_uc002kxt.3_Silent_p.R515R NM_003787 NP_003778 O94818 NOL4_HUMAN nucleolar protein 4 617 nucleolus RNA binding ovary(3) 3 GCTGATTCTCGATATCCTGCA 0.458 18 41 --- --- --- --- PASS DTNA 1837 broad.mit.edu 37 18 32455336 32455336 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr18:32455336G>A uc010dmn.1 + 17 1797 c.1796G>A c.(1795-1797)GGA>GAA p.G599E DTNA_uc002kxw.2_Missense_Mutation_p.G542E|DTNA_uc010dmj.2_Missense_Mutation_p.G539E|DTNA_uc002kxz.2_Missense_Mutation_p.G546E|DTNA_uc002kxy.2_Missense_Mutation_p.G539E|DTNA_uc010xby.1_Missense_Mutation_p.G289E|DTNA_uc010xbz.1_Missense_Mutation_p.G308E|DTNA_uc010xca.1_Missense_Mutation_p.G251E|DTNA_uc002kye.2_Missense_Mutation_p.G247E NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 599 neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 GGAGTAGGGGGAGATGTACAA 0.527 22 10 --- --- --- --- PASS POLI 11201 broad.mit.edu 37 18 51820157 51820157 + Missense_Mutation SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr18:51820157A>G uc002lfj.3 + 10 1611 c.1543A>G c.(1543-1545)ATT>GTT p.I515V POLI_uc010xds.1_Missense_Mutation_p.I436V|POLI_uc002lfk.3_Missense_Mutation_p.I412V|POLI_uc010dpg.2_Missense_Mutation_p.I111V NM_007195 NP_009126 Q9UNA4 POLI_HUMAN DNA polymerase iota 515 DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding ovary(2)|kidney(1) 3 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) AGAAAAAGACATTAATGAATT 0.378 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 10 18 --- --- --- --- PASS TCF4 6925 broad.mit.edu 37 18 52924583 52924583 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr18:52924583G>A uc002lfz.2 - 14 1721 c.1109C>T c.(1108-1110)TCA>TTA p.S370L TCF4_uc002lfw.3_Missense_Mutation_p.S210L|TCF4_uc010xdu.1_Missense_Mutation_p.S240L|TCF4_uc010xdv.1_Missense_Mutation_p.S240L|TCF4_uc002lfx.2_Missense_Mutation_p.S299L|TCF4_uc010xdw.1_Missense_Mutation_p.S240L|TCF4_uc002lfy.2_Missense_Mutation_p.S328L|TCF4_uc010xdx.1_Missense_Mutation_p.S346L|TCF4_uc010dph.1_Missense_Mutation_p.S370L|TCF4_uc010xdy.1_Missense_Mutation_p.S346L|TCF4_uc002lga.2_Missense_Mutation_p.S472L|TCF4_uc002lgb.1_Missense_Mutation_p.S210L|TCF4_uc010dpi.2_Missense_Mutation_p.S376L|TCF4_uc002lfv.2_Missense_Mutation_p.S153L NM_003199 NP_003190 P15884 ITF2_HUMAN transcription factor 4 isoform b 370 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding ovary(1)|lung(1) 2 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) AGGAGACGATGAGGCCTGTCC 0.418 36 51 --- --- --- --- PASS KIAA1468 57614 broad.mit.edu 37 18 59972682 59972682 + Missense_Mutation SNP A C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr18:59972682A>C uc002lil.2 + 29 3781 c.3566A>C c.(3565-3567)GAT>GCT p.D1189A KIAA1468_uc010xel.1_Missense_Mutation_p.D1189A|KIAA1468_uc002lim.2_Missense_Mutation_p.D867A NM_020854 NP_065905 Q9P260 K1468_HUMAN hypothetical protein LOC57614 1189 binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1) 6 Colorectal(73;0.186) GTGAGTGAAGATACAAAGACC 0.323 20 98 --- --- --- --- PASS ZNF407 55628 broad.mit.edu 37 18 72632562 72632562 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr18:72632562G>T uc002llw.2 + 7 5399 c.5342G>T c.(5341-5343)GGG>GTG p.G1781V ZNF407_uc010dqu.1_Missense_Mutation_p.G1781V NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 1781 C2H2-type 22. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) TGTGACTACGGGACCAACGTC 0.493 4 35 --- --- --- --- PASS SALL3 27164 broad.mit.edu 37 18 76756945 76756945 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr18:76756945C>A uc002lmt.2 + 3 3526 c.3526C>A c.(3526-3528)CTG>ATG p.L1176M SALL3_uc010dra.2_Missense_Mutation_p.L711M NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 1176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CGGCCGCCGCCTGTCTGTGGA 0.617 6 15 --- --- --- --- PASS SALL3 27164 broad.mit.edu 37 18 76757113 76757113 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr18:76757113G>A uc002lmt.2 + 3 3694 c.3694G>A c.(3694-3696)GTC>ATC p.V1232I SALL3_uc010dra.2_Missense_Mutation_p.V767I NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 1232 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CGAGATCTCCGTCATCCAGAA 0.622 6 71 --- --- --- --- PASS REXO1 57455 broad.mit.edu 37 19 1828009 1828009 + Missense_Mutation SNP C A A rs143118600 TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:1828009C>A uc002lua.3 - 2 874 c.779G>T c.(778-780)CGG>CTG p.R260L REXO1_uc010dsr.1_Missense_Mutation_p.R214L NM_020695 NP_065746 Q8N1G1 REXO1_HUMAN transcription elongation factor B polypeptide 3 260 nucleus exonuclease activity|nucleic acid binding 0 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGGGAGCCCCGGGGCCGCTT 0.652 4 9 --- --- --- --- PASS INSR 3643 broad.mit.edu 37 19 7125485 7125485 + Missense_Mutation SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:7125485T>C uc002mgd.1 - 17 3176 c.3067A>G c.(3067-3069)ATC>GTC p.I1023V INSR_uc002mge.1_Missense_Mutation_p.I1011V NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 1023 Protein kinase.|Cytoplasmic (Potential). I -> F. activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGGAGGGTGATCTTCTCTCGA 0.577 13 32 --- --- --- --- PASS KIAA1543 57662 broad.mit.edu 37 19 7675433 7675433 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:7675433G>A uc002mgv.3 + 6 933 c.832G>A c.(832-834)GCC>ACC p.A278T KIAA1543_uc002mgu.3_Missense_Mutation_p.A305T NM_020902 NP_065953 Q9P1Y5 CAMP3_HUMAN NEZHA isoform 2 278 CH. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding pancreas(1) 1 GGATTTCTGTGCCTCTCGCCT 0.632 16 54 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9065831 9065831 + Silent SNP T A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:9065831T>A uc002mkp.2 - 3 21819 c.21615A>T c.(21613-21615)ACA>ACT p.T7205T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7207 Ser-rich.|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 TGGCTTTGGATGTCTCTGAGT 0.488 22 78 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9071159 9071159 + Silent SNP A T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:9071159A>T uc002mkp.2 - 3 16491 c.16287T>A c.(16285-16287)ACT>ACA p.T5429T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5431 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 CAGACCCGGAAGTCCCTACAT 0.527 50 173 --- --- --- --- PASS OR7G3 390883 broad.mit.edu 37 19 9237355 9237355 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:9237355G>T uc010xkl.1 - 1 272 c.272C>A c.(271-273)TCC>TAC p.S91Y NM_001001958 NP_001001958 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, 91 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GTAATTGATGGATTGAGCCTG 0.483 30 53 --- --- --- --- PASS DNMT1 1786 broad.mit.edu 37 19 10251824 10251824 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:10251824G>T uc002mng.2 - 30 3483 c.3303C>A c.(3301-3303)AAC>AAA p.N1101K DNMT1_uc002mne.2_5'Flank|DNMT1_uc002mnf.2_Missense_Mutation_p.N25K|DNMT1_uc010xlc.1_Missense_Mutation_p.N1117K|DNMT1_uc002mnh.2_Missense_Mutation_p.N996K|DNMT1_uc010xld.1_Missense_Mutation_p.N1101K NM_001379 NP_001370 P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 isoform b 1101 chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) TACGGGCATGGTTGGGAGGAT 0.468 11 69 --- --- --- --- PASS TYK2 7297 broad.mit.edu 37 19 10477140 10477140 + Silent SNP G T T rs147934502 TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:10477140G>T uc002moc.3 - 6 960 c.582C>A c.(580-582)CTC>CTA p.L194L TYK2_uc010dxe.2_Silent_p.L9L|TYK2_uc002mod.2_Silent_p.L194L NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 194 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity lung(5)|large_intestine(2)|ovary(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) GGCGGAGAGCGAGGTGACAGA 0.597 4 70 --- --- --- --- PASS AKAP8 10270 broad.mit.edu 37 19 15484801 15484801 + Missense_Mutation SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:15484801G>C uc002nav.2 - 4 228 c.167C>G c.(166-168)GCC>GGC p.A56G AKAP8_uc010dzy.2_5'Flank|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_Intron NM_005858 NP_005849 O43823 AKAP8_HUMAN A-kinase anchor protein 8 56 signal transduction nuclear matrix ovary(1)|breast(1) 2 CTCCCACGAGGCTGGGCCGTA 0.622 8 69 --- --- --- --- PASS IL12RB1 3594 broad.mit.edu 37 19 18186641 18186641 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:18186641C>A uc002nhw.1 - 7 682 c.618G>T c.(616-618)CAG>CAT p.Q206H IL12RB1_uc010xqb.1_Missense_Mutation_p.Q206H|IL12RB1_uc002nhx.1_Missense_Mutation_p.Q246H|IL12RB1_uc002nhy.2_Missense_Mutation_p.Q206H NM_005535 NP_005526 P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 isoform 1 206 Extracellular (Potential).|Fibronectin type-III 2. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity pancreas(1) 1 GCTGGAATTCCTGGGCCACAT 0.572 4 38 --- --- --- --- PASS GDF1 2657 broad.mit.edu 37 19 18995020 18995020 + Nonsense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:18995020C>A uc002nki.1 - 3 538 c.466G>T c.(466-468)GGA>TGA p.G156* LASS1_uc002nkj.2_Nonsense_Mutation_p.G156*|LASS1_uc010ebx.2_Nonsense_Mutation_p.G58* NM_021267 NP_067090 P27539 GDF1_HUMAN LAG1 homolog, ceramide synthase 1 isoform 1 Error:Variant_position_missing_in_P27539_after_alignment growth extracellular space cytokine activity|growth factor activity 0 TAGAAGCTTCCCTGGAGCAGG 0.607 4 17 --- --- --- --- PASS NCAN 1463 broad.mit.edu 37 19 19338799 19338799 + Silent SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:19338799G>C uc002nlz.2 + 8 2469 c.2370G>C c.(2368-2370)CTG>CTC p.L790L NCAN_uc010ecc.1_Silent_p.L354L NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 790 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) GCAAAGGGCTGGATGCAAGTT 0.577 46 23 --- --- --- --- PASS NCAN 1463 broad.mit.edu 37 19 19338800 19338800 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:19338800G>T uc002nlz.2 + 8 2470 c.2371G>T c.(2371-2373)GAT>TAT p.D791Y NCAN_uc010ecc.1_Missense_Mutation_p.D355Y NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 791 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) CAAAGGGCTGGATGCAAGTTC 0.582 44 23 --- --- --- --- PASS ZNF253 56242 broad.mit.edu 37 19 20003536 20003536 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:20003536C>A uc002noj.2 + 4 1572 c.1480C>A c.(1480-1482)CTT>ATT p.L494I ZNF253_uc002nok.2_Missense_Mutation_p.L418I|ZNF253_uc002nol.2_RNA NM_021047 NP_066385 O75346 ZN253_HUMAN zinc finger protein 253 494 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGTTCCTCCACTTTTAATTAG 0.343 9 69 --- --- --- --- PASS ZNF43 7594 broad.mit.edu 37 19 21990988 21990988 + Silent SNP A T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:21990988A>T uc002nqj.2 - 4 1981 c.1851T>A c.(1849-1851)ACT>ACA p.T617T ZNF43_uc010ecv.2_Silent_p.T611T|ZNF43_uc002nql.2_Silent_p.T611T|ZNF43_uc002nqm.2_Silent_p.T611T|ZNF43_uc002nqk.2_Silent_p.T547T NM_003423 NP_003414 P17038 ZNF43_HUMAN zinc finger protein 43 617 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) GTTTTCCTCCAGTATGAATTT 0.338 5 78 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22154213 22154213 + Nonsense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:22154213C>T uc002nqp.2 - 6 3388 c.3239G>A c.(3238-3240)TGG>TAG p.W1080* ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) GGTTGAGGGCCACTTATAGGC 0.393 82 60 --- --- --- --- PASS ZNF676 163223 broad.mit.edu 37 19 22362957 22362957 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:22362957G>T uc002nqs.1 - 3 1880 c.1562C>A c.(1561-1563)ACT>AAT p.T521N NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 521 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CTTATGTTCAGTAAGGATCGA 0.398 8 184 --- --- --- --- PASS ZNF91 7644 broad.mit.edu 37 19 23542365 23542365 + Missense_Mutation SNP C G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:23542365C>G uc002nre.2 - 4 3529 c.3416G>C c.(3415-3417)TGT>TCT p.C1139S ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.C1107S NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 1139 C2H2-type 36. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGCTTTGCCACATTTTTCACA 0.279 15 29 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 30935497 30935497 + Missense_Mutation SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:30935497A>G uc002nsu.1 + 2 1166 c.1028A>G c.(1027-1029)AAC>AGC p.N343S ZNF536_uc010edd.1_Missense_Mutation_p.N343S NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 343 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CAGTCGGCCAACGAGTTCCGC 0.647 11 101 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 30935825 30935825 + Silent SNP C G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:30935825C>G uc002nsu.1 + 2 1494 c.1356C>G c.(1354-1356)CTC>CTG p.L452L ZNF536_uc010edd.1_Silent_p.L452L NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CCAGCCAGCTCTATGGCAAGG 0.657 5 21 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 31039661 31039661 + Silent SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:31039661C>T uc002nsu.1 + 4 3273 c.3135C>T c.(3133-3135)GCC>GCT p.A1045A ZNF536_uc010edd.1_Silent_p.A1045A NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1045 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) AAGACCAAGCCCGGGAGGCGA 0.537 15 44 --- --- --- --- PASS FXYD1 5348 broad.mit.edu 37 19 35630999 35630999 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:35630999C>A uc002nyc.2 + 2 87 c.16C>A c.(16-18)CAC>AAC p.H6N LGI4_uc002nxy.1_Intron|FXYD1_uc002nyb.1_RNA|FXYD1_uc002nyd.2_Missense_Mutation_p.H6N NM_021902 NP_068702 O00168 PLM_HUMAN phospholemman precursor 6 muscle contraction chloride channel complex|integral to plasma membrane chloride channel activity 0 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849) GTCTCTTGGCCACATCTTGGT 0.612 24 26 --- --- --- --- PASS MLL4 9757 broad.mit.edu 37 19 36218350 36218350 + Nonsense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:36218350G>T uc010eei.2 + 17 4129 c.4129G>T c.(4129-4131)GAG>TAG p.E1377* NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 1377 PHD-type 3. chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGAAGACTACGAGATCCTTTC 0.622 6 211 --- --- --- --- PASS TYROBP 7305 broad.mit.edu 37 19 36398473 36398473 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:36398473C>A uc002ocm.2 - 3 160 c.104G>T c.(103-105)TGC>TTC p.C35F TYROBP_uc002ocn.2_Missense_Mutation_p.C35F NM_003332 NP_003323 O43914 TYOBP_HUMAN TYRO protein tyrosine kinase binding protein 35 Extracellular (Potential). axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response integral to plasma membrane|intracellular identical protein binding|receptor signaling protein activity 0 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CACCGTAGAGCAACTGCAATC 0.642 10 23 --- --- --- --- PASS ZNF461 92283 broad.mit.edu 37 19 37130589 37130589 + Missense_Mutation SNP C G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:37130589C>G uc002oem.2 - 6 886 c.658G>C c.(658-660)GAA>CAA p.E220Q ZNF461_uc002oen.2_Missense_Mutation_p.E189Q|ZNF461_uc010xtj.1_Missense_Mutation_p.E197Q NM_153257 NP_694989 Q8TAF7 ZN461_HUMAN gonadotropin inducible transcription repressor 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TCTTTACATTCAGAAAGTTCT 0.299 29 42 --- --- --- --- PASS ZNF461 92283 broad.mit.edu 37 19 37149309 37149309 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:37149309C>A uc002oem.2 - 3 256 c.28G>T c.(28-30)GAT>TAT p.D10Y ZNF461_uc002oen.2_5'UTR|ZNF461_uc010xtj.1_Missense_Mutation_p.D10Y NM_153257 NP_694989 Q8TAF7 ZN461_HUMAN gonadotropin inducible transcription repressor 10 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) ATAGCCACATCTCTGAACATC 0.363 6 35 --- --- --- --- PASS ZNF585A 199704 broad.mit.edu 37 19 37643905 37643905 + Missense_Mutation SNP T A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:37643905T>A uc002ofo.1 - 5 1127 c.896A>T c.(895-897)GAG>GTG p.E299V ZNF585A_uc002ofm.1_Missense_Mutation_p.E244V|ZNF585A_uc002ofn.1_Missense_Mutation_p.E244V NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN zinc finger protein 585A 299 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GTTACTGCACTCATATGGTTT 0.438 120 99 --- --- --- --- PASS ZNF613 79898 broad.mit.edu 37 19 52443504 52443504 + Nonsense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:52443504G>T uc002pxz.1 + 4 481 c.58G>T c.(58-60)GAG>TAG p.E20* ZNF613_uc002pya.1_5'UTR NM_001031721 NP_001026891 Q6PF04 ZN613_HUMAN zinc finger protein 613 isoform 1 20 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) GTTCACTTGGGAGGAGTGGCA 0.498 6 116 --- --- --- --- PASS ZNF813 126017 broad.mit.edu 37 19 53989949 53989949 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:53989949C>T uc002qbu.2 + 3 207 c.79C>T c.(79-81)CCT>TCT p.P27S ZNF813_uc010eqq.1_RNA NM_001004301 NP_001004301 Q6ZN06 ZN813_HUMAN zinc finger protein 813 27 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) ATGCCTGGACCCTGCTCAGAG 0.483 13 190 --- --- --- --- PASS MIR519B 574469 broad.mit.edu 37 19 54198504 54198504 + RNA SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:54198504T>C hsa-mir-519b|MI0003151 + c.38T>C MIR525_hsa-mir-525|MI0003152_5'Flank 0 CTTTCTGTTGTCTGAAAGAAA 0.418 128 124 --- --- --- --- PASS LILRA6 79168 broad.mit.edu 37 19 54742916 54742916 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:54742916C>A uc002qeu.1 - 8 1483 c.1359G>T c.(1357-1359)ATG>ATT p.M453I LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.M297I NM_024318 NP_077294 Q6PI73 LIRA6_HUMAN leukocyte immunoglobulin-like receptor, 453 Helical; (Potential). integral to membrane receptor activity skin(2) 2 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CCAAGCCTGCCATGCCCATGC 0.572 6 97 --- --- --- --- PASS LILRA4 23547 broad.mit.edu 37 19 54848965 54848965 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:54848965C>A uc002qfj.2 - 5 715 c.658G>T c.(658-660)GTG>TTG p.V220L LILRA4_uc002qfi.2_Missense_Mutation_p.V154L NM_012276 NP_036408 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor subfamily 220 Extracellular (Potential). integral to membrane receptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) TTCCTAGACACGCCTGGAGGG 0.597 9 11 --- --- --- --- PASS LILRA2 11027 broad.mit.edu 37 19 55086465 55086465 + Missense_Mutation SNP C G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:55086465C>G uc002qgg.3 + 4 709 c.620C>G c.(619-621)TCT>TGT p.S207C LILRA2_uc010ern.2_Missense_Mutation_p.S207C|LILRA2_uc002qgf.2_Missense_Mutation_p.S207C|LILRA2_uc010yfe.1_Missense_Mutation_p.S207C|LILRA2_uc010yff.1_Missense_Mutation_p.S195C|LILRA2_uc010ero.2_Missense_Mutation_p.S195C|LILRA2_uc010yfg.1_Missense_Mutation_p.S207C NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 207 Extracellular (Potential).|Ig-like C2-type 2. defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) TATGTGTGGTCTCTACCCAGT 0.587 97 73 --- --- --- --- PASS NLRP4 147945 broad.mit.edu 37 19 56369120 56369120 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:56369120C>A uc002qmd.3 + 3 783 c.361C>A c.(361-363)CTA>ATA p.L121I NLRP4_uc002qmf.2_Missense_Mutation_p.L46I|NLRP4_uc010etf.2_5'UTR NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 121 ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TGAGATTCACCTATACTTTGA 0.473 7 163 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57327637 57327637 + Missense_Mutation SNP T C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:57327637T>C uc002qnu.2 - 7 2524 c.2173A>G c.(2173-2175)AGT>GGT p.S725G ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S696G|PEG3_uc002qnv.2_Missense_Mutation_p.S725G|PEG3_uc002qnw.2_Missense_Mutation_p.S601G|PEG3_uc002qnx.2_Missense_Mutation_p.S599G|PEG3_uc010etr.2_Missense_Mutation_p.S725G NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 725 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) AATGGCCCACTATGAATGACA 0.433 31 74 --- --- --- --- PASS ANGPT4 51378 broad.mit.edu 37 20 855022 855022 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr20:855022C>A uc002wei.2 - 8 1359 c.1256G>T c.(1255-1257)CGC>CTC p.R419L ANGPT4_uc010zpn.1_Intron NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN angiopoietin 4 precursor 419 Fibrinogen C-terminal. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity ovary(2) 2 GCTGCTCTGGCGCCCTGCTGA 0.612 25 31 --- --- --- --- PASS PROKR2 128674 broad.mit.edu 37 20 5283148 5283148 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr20:5283148C>A uc010zqw.1 - 2 693 c.693G>T c.(691-693)GAG>GAT p.E231D PROKR2_uc010zqx.1_Missense_Mutation_p.E231D|PROKR2_uc010zqy.1_Missense_Mutation_p.E231D NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 231 Helical; Name=5; (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 GGCCCACGAACTCGACACCAA 0.547 HNSCC(71;0.22) 31 34 --- --- --- --- PASS FERMT1 55612 broad.mit.edu 37 20 6078203 6078203 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr20:6078203C>T uc002wmr.2 - 7 1714 c.925G>A c.(925-927)GAG>AAG p.E309K FERMT1_uc010gbt.2_Missense_Mutation_p.E52K|FERMT1_uc002wms.2_Missense_Mutation_p.E309K|FERMT1_uc002wmt.2_Missense_Mutation_p.E52K NM_017671 NP_060141 Q9BQL6 FERM1_HUMAN kindlin-1 309 FERM. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding ovary(1)|pancreas(1)|skin(1) 3 ATTTCTTCCTCTGTGCAATCA 0.418 17 63 --- --- --- --- PASS RRBP1 6238 broad.mit.edu 37 20 17641085 17641085 + Missense_Mutation SNP A C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr20:17641085A>C uc010zrq.1 - 3 422 c.68T>G c.(67-69)ATT>AGT p.I23S RRBP1_uc002wpu.2_5'Flank|RRBP1_uc002wpv.1_Missense_Mutation_p.I23S|RRBP1_uc002wpw.1_Missense_Mutation_p.I23S|RRBP1_uc010gcl.1_Intron|RRBP1_uc010zrr.1_Missense_Mutation_p.I23S Q9P2E9 RRBP1_HUMAN SubName: Full=RRBP1 protein; Flags: Fragment; 23 Helical; (Potential). protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity ovary(1) 1 GAAGATGCCAATGGCAGAAAC 0.473 31 47 --- --- --- --- PASS RALGAPA2 57186 broad.mit.edu 37 20 20610174 20610174 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr20:20610174C>T uc002wrz.2 - 10 1209 c.1066G>A c.(1066-1068)GAG>AAG p.E356K RALGAPA2_uc010gcx.2_Missense_Mutation_p.E60K|RALGAPA2_uc010zsg.1_5'UTR NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 356 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 TTGTCCTGCTCCGTGGGCCCA 0.547 32 38 --- --- --- --- PASS SSTR4 6754 broad.mit.edu 37 20 23016630 23016630 + Silent SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr20:23016630G>A uc002wsr.2 + 1 574 c.510G>A c.(508-510)GTG>GTA p.V170V NM_001052 NP_001043 P31391 SSR4_HUMAN somatostatin receptor 4 170 Helical; Name=4; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity ovary(1) 1 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) ACCTGGGCGTGTGGCTGGCAT 0.697 11 38 --- --- --- --- PASS TM9SF4 9777 broad.mit.edu 37 20 30745749 30745749 + Silent SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr20:30745749G>A uc002wxj.2 + 14 1717 c.1482G>A c.(1480-1482)CGG>CGA p.R494R TM9SF4_uc010zts.1_Silent_p.R401R|TM9SF4_uc002wxk.2_Silent_p.R477R|TM9SF4_uc010gdz.2_Silent_p.R373R NM_014742 NP_055557 Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 494 integral to membrane central_nervous_system(1)|pancreas(1) 2 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CCGAGCAGCGGTGGTACATGA 0.617 12 49 --- --- --- --- PASS PTPRT 11122 broad.mit.edu 37 20 40864878 40864878 + Missense_Mutation SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr20:40864878G>C uc002xkg.2 - 15 2517 c.2333C>G c.(2332-2334)TCC>TGC p.S778C PTPRT_uc010ggj.2_Missense_Mutation_p.S797C NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 778 Cytoplasmic (Potential). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CAAGTAATAGGAGTAGGAATA 0.388 17 70 --- --- --- --- PASS CBLN4 140689 broad.mit.edu 37 20 54573767 54573767 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr20:54573767G>T uc002xxa.2 - 3 1237 c.452C>A c.(451-453)GCG>GAG p.A151E NM_080617 NP_542184 Q9NTU7 CBLN4_HUMAN cerebellin 4 precursor 151 C1q. cell junction|extracellular region|synapse ovary(3)|pancreas(1) 4 Colorectal(105;0.202) TTTGTCCCCCGCAAAGGCAGA 0.358 25 13 --- --- --- --- PASS SFRS15 57466 broad.mit.edu 37 21 33044507 33044507 + Silent SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr21:33044507C>T uc002ypd.2 - 20 3075 c.2649G>A c.(2647-2649)CCG>CCA p.P883P SFRS15_uc002ype.2_Silent_p.P861P|SFRS15_uc010glu.2_Silent_p.P868P NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 883 nucleus nucleotide binding|RNA binding 0 GCATCATGTGCGGTGGCATGG 0.642 25 10 --- --- --- --- PASS SFRS15 57466 broad.mit.edu 37 21 33058012 33058012 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr21:33058012C>A uc002ypd.2 - 17 2504 c.2078G>T c.(2077-2079)GGT>GTT p.G693V SFRS15_uc002ype.2_Missense_Mutation_p.G693V|SFRS15_uc010glu.2_Missense_Mutation_p.G678V|SFRS15_uc002ypf.1_Missense_Mutation_p.G367V NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 693 nucleus nucleotide binding|RNA binding 0 CTGGAGAGCACCAACTACAGG 0.547 17 10 --- --- --- --- PASS SON 6651 broad.mit.edu 37 21 34926741 34926741 + Missense_Mutation SNP G A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr21:34926741G>A uc002yse.1 + 3 5253 c.5204G>A c.(5203-5205)AGA>AAA p.R1735K SON_uc002ysb.1_Missense_Mutation_p.R1735K|SON_uc002ysc.2_Missense_Mutation_p.R1735K|SON_uc002ysd.2_Missense_Mutation_p.R726K|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.R726K NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 1735 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 GATTTAGTGAGACCGTTACTT 0.448 17 80 --- --- --- --- PASS FTCD 10841 broad.mit.edu 37 21 47571482 47571482 + Missense_Mutation SNP C G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr21:47571482C>G uc002zif.2 - 5 670 c.626G>C c.(625-627)GGG>GCG p.G209A FTCD_uc002zig.2_Missense_Mutation_p.G209A|FTCD_uc002zih.2_Missense_Mutation_p.G209A|FTCD_uc010gqf.2_Missense_Mutation_p.G209A|FTCD_uc010gqg.1_Missense_Mutation_p.G78A NM_006657 NP_006648 O95954 FTCD_HUMAN formiminotransferase cyclodeaminase 209 Formiminotransferase C-subdomain (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity pancreas(1)|skin(1) 2 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CTGGTCCTTCCCGCGGCCCTG 0.652 11 7 --- --- --- --- PASS AIFM3 150209 broad.mit.edu 37 22 21330039 21330039 + Missense_Mutation SNP A G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr22:21330039A>G uc002ztj.2 + 9 997 c.779A>G c.(778-780)TAT>TGT p.Y260C AIFM3_uc002ztk.2_Missense_Mutation_p.Y260C|AIFM3_uc002ztl.2_Missense_Mutation_p.Y266C|AIFM3_uc011ahx.1_Missense_Mutation_p.Y248C|AIFM3_uc002ztm.1_Missense_Mutation_p.Y72C NM_144704 NP_653305 Q96NN9 AIFM3_HUMAN apoptosis-inducing factor, 260 activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport endoplasmic reticulum|mitochondrial inner membrane 2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding ovary(2)|lung(2) 4 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TTCCGAGCCTATGGCATCGAG 0.592 8 55 --- --- --- --- PASS C22orf13 83606 broad.mit.edu 37 22 24943946 24943946 + Missense_Mutation SNP A C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr22:24943946A>C uc003aah.2 - 3 540 c.224T>G c.(223-225)ATG>AGG p.M75R C22orf13_uc003aal.2_Missense_Mutation_p.M131R|C22orf13_uc003aai.3_Missense_Mutation_p.M75R|C22orf13_uc003aaj.3_Missense_Mutation_p.M75R|C22orf13_uc003aak.3_Missense_Mutation_p.M131R NM_031444 NP_113632 Q96NT3 CV013_HUMAN chromosome 22 open reading frame 13 75 0 AAAGTGGTGCATCAGGTAGGC 0.607 32 42 --- --- --- --- PASS GAS2L1 10634 broad.mit.edu 37 22 29706908 29706908 + Silent SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr22:29706908G>C uc003afa.1 + 5 1129 c.930G>C c.(928-930)GGG>GGC p.G310G GAS2L1_uc010gvm.1_Silent_p.G310G|GAS2L1_uc003afb.1_Silent_p.G310G|GAS2L1_uc003afc.1_Silent_p.G310G|GAS2L1_uc003afd.1_Silent_p.G310G|GAS2L1_uc003afe.1_Silent_p.G310G NM_152236 NP_689422 Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 isoform a 310 cell cycle arrest cytoplasm|cytoskeleton 0 CAGTCCCTGGGAGTGAGCGCC 0.672 35 37 --- --- --- --- PASS NEFH 4744 broad.mit.edu 37 22 29885319 29885319 + Missense_Mutation SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr22:29885319G>C uc003afo.2 + 4 1761 c.1690G>C c.(1690-1692)GCC>CCC p.A564P NEFH_uc003afp.2_Intron NM_021076 NP_066554 P12036 NFH_HUMAN neurofilament, heavy polypeptide 200kDa 564 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|5.|Tail. cell death|nervous system development neurofilament 0 ACCGCCTGAGGCCAAGTCCCC 0.567 20 145 --- --- --- --- PASS LARGE 9215 broad.mit.edu 37 22 33733695 33733695 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr22:33733695G>T uc003and.3 - 11 1803 c.1224C>A c.(1222-1224)GAC>GAA p.D408E LARGE_uc011amd.1_Missense_Mutation_p.D207E|LARGE_uc003ane.3_Missense_Mutation_p.D408E|LARGE_uc010gwp.2_Intron|LARGE_uc011ame.1_Missense_Mutation_p.D340E|LARGE_uc011amf.1_Missense_Mutation_p.D408E|LARGE_uc010gwq.1_RNA NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 408 Lumenal (Potential). glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) GAAGATTGCCGTCATACTCCA 0.562 15 30 --- --- --- --- PASS L3MBTL2 83746 broad.mit.edu 37 22 41605724 41605724 + Nonsense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr22:41605724G>T uc003azo.2 + 2 103 c.49G>T c.(49-51)GAG>TAG p.E17* L3MBTL2_uc010gyi.1_5'UTR|L3MBTL2_uc003azn.2_RNA|uc003azp.1_RNA NM_031488 NP_113676 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 17 Poly-Glu. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 AGAACCAATGGAGGAAGAGGA 0.488 6 181 --- --- --- --- PASS SCUBE1 80274 broad.mit.edu 37 22 43614411 43614411 + Missense_Mutation SNP C A A rs139119420 TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr22:43614411C>A uc003bdt.1 - 15 1829 c.1741G>T c.(1741-1743)GCC>TCC p.A581S NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 581 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_neural(38;0.0414)|Ovarian(80;0.07) GTCTTGATGGCGGCCTGCAGG 0.607 45 72 --- --- --- --- PASS TUBGCP6 85378 broad.mit.edu 37 22 50682676 50682676 + Silent SNP G C C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr22:50682676G>C uc003bkb.1 - 1 725 c.213C>G c.(211-213)CTC>CTG p.L71L TUBGCP6_uc010har.1_Silent_p.L71L|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hau.1_Silent_p.L71L NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 71 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) AGGACAACATGAGGATCTTGT 0.517 8 77 --- --- --- --- PASS GPR64 10149 broad.mit.edu 37 X 19025356 19025356 + Missense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chrX:19025356G>T uc004cyx.2 - 20 1850 c.1686C>A c.(1684-1686)AGC>AGA p.S562R GPR64_uc004cyy.2_Missense_Mutation_p.S559R|GPR64_uc004cyz.2_Missense_Mutation_p.S548R|GPR64_uc004czb.2_Missense_Mutation_p.S562R|GPR64_uc004czc.2_Missense_Mutation_p.S546R|GPR64_uc004czd.2_Missense_Mutation_p.S538R|GPR64_uc004cze.2_Missense_Mutation_p.S532R|GPR64_uc004czf.2_Missense_Mutation_p.S524R|GPR64_uc004cza.2_Missense_Mutation_p.S540R|GPR64_uc004cyw.2_Missense_Mutation_p.S546R|GPR64_uc010nfj.2_Intron NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 isoform 1 562 Extracellular (Potential). neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity 0 Hepatocellular(33;0.183) TCCCCACCTGGCTCGGGTTGA 0.498 16 10 --- --- --- --- PASS PRDX4 10549 broad.mit.edu 37 X 23689672 23689672 + Nonsense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chrX:23689672G>T uc004dam.2 + 2 311 c.268G>T c.(268-270)GGA>TGA p.G90* NM_006406 NP_006397 Q13162 PRDX4_HUMAN peroxiredoxin 4 90 Thioredoxin. cell redox homeostasis|I-kappaB phosphorylation thioredoxin peroxidase activity upper_aerodigestive_tract(1) 1 CTACTGGGAAGGAACAGCTGT 0.383 4 33 --- --- --- --- PASS MAGEB6 158809 broad.mit.edu 37 X 26212607 26212607 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chrX:26212607C>A uc004dbr.2 + 2 793 c.644C>A c.(643-645)TCC>TAC p.S215Y MAGEB6_uc010ngc.1_5'UTR NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 215 MAGE. ovary(3) 3 AAGAAAGAGTCCATTTTGAAG 0.468 26 32 --- --- --- --- PASS MAGEB4 4115 broad.mit.edu 37 X 30260685 30260685 + Nonsense_Mutation SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chrX:30260685G>T uc004dcb.2 + 1 517 c.433G>T c.(433-435)GAG>TAG p.E145* MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank NM_002367 NP_002358 O15481 MAGB4_HUMAN melanoma antigen family B, 4 145 MAGE. ovary(1) 1 AAAGTACAAGGAGCACTTCCC 0.478 6 9 --- --- --- --- PASS KDM6A 7403 broad.mit.edu 37 X 44922694 44922694 + Nonsense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chrX:44922694C>T uc004dge.3 + 16 1930 c.1555C>T c.(1555-1557)CGA>TGA p.R519* KDM6A_uc010nhk.2_Nonsense_Mutation_p.R485*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.R571*|KDM6A_uc011mla.1_Nonsense_Mutation_p.R474*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.R526*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.R223*|KDM6A_uc011mld.1_Nonsense_Mutation_p.R158* NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 519 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TGCACAGGTACGATCTACTGG 0.463 D|N|F|S renal|oesophageal SCC|MM 26 18 --- --- --- --- PASS SPIN4 139886 broad.mit.edu 37 X 62570653 62570653 + Missense_Mutation SNP C T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chrX:62570653C>T uc004dvf.2 - 1 566 c.46G>A c.(46-48)GCA>ACA p.A16T NM_001012968 NP_001012986 Q56A73 SPIN4_HUMAN spindlin family, member 4 16 gamete generation ovary(1)|lung(1) 2 ATCAGGTATGCGGACACGCCA 0.567 9 13 --- --- --- --- PASS RAB41 347517 broad.mit.edu 37 X 69502420 69502420 + Missense_Mutation SNP C G G rs140771923 TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chrX:69502420C>G uc004dyc.2 + 2 162 c.162C>G c.(160-162)AAC>AAG p.N54K RAB41_uc010nkv.2_Missense_Mutation_p.N43K NM_001032726 NP_001027898 Q5JT25 RAB41_HUMAN RAB41, member RAS oncogene family 54 protein transport|small GTPase mediated signal transduction GTP binding ovary(2)|breast(2) 4 TCATGTACAACAGCTTCGGCT 0.527 9 4 --- --- --- --- PASS ZMYM3 9203 broad.mit.edu 37 X 70464694 70464694 + Silent SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chrX:70464694C>A uc004dzh.1 - 19 3144 c.3057G>T c.(3055-3057)CTG>CTT p.L1019L BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Silent_p.L1019L|ZMYM3_uc004dzj.1_Silent_p.L1007L NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 1019 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) CAGGCCCTACCAGGCCACAAT 0.453 4 18 --- --- --- --- PASS ZCCHC12 170261 broad.mit.edu 37 X 117959988 117959988 + Missense_Mutation SNP T A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chrX:117959988T>A uc004equ.2 + 4 1254 c.781T>A c.(781-783)TGC>AGC p.C261S NM_173798 NP_776159 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding ovary(1) 1 CAGTGCTGACTGCAATGTGAT 0.557 18 19 --- --- --- --- PASS FRMD7 90167 broad.mit.edu 37 X 131219751 131219751 + Missense_Mutation SNP C A A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chrX:131219751C>A uc004ewn.2 - 7 681 c.503G>T c.(502-504)AGG>ATG p.R168M FRMD7_uc011muy.1_Missense_Mutation_p.R153M NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 168 FERM. regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) AGCTGGGCTCCTGCCACTGAA 0.502 4 20 --- --- --- --- PASS MIR888 100126306 broad.mit.edu 37 X 145076364 145076364 + RNA SNP G T T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chrX:145076364G>T hsa-mir-888|MI0005537 - c.15G>T MIR890_hsa-mir-890|MI0005533_5'Flank 0 ACAGCTTTTTGAGTAGAGCAC 0.498 12 4 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 1 16889470 16889472 + RNA DEL ACA - - rs35438508 TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:16889470_16889472delACA uc001ayw.2 - 1 c.611_613delTGT Homo sapiens AB5 mRNA, 3' untranslated region. accatcaatgacaacaacaaaaa 0.074 4 2 --- --- --- --- Unknown 0 broad.mit.edu 37 1 84042375 84042376 + RNA INS - T T rs112376435 TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:84042375_84042376insT uc001diz.3 - 3 c.2260_2261insA Homo sapiens cDNA clone IMAGE:4815396. cttttgtgcacttttttttttt 0.000 4 2 --- --- --- --- LOC149134 149134 broad.mit.edu 37 1 246939610 246939611 + RNA INS - TATT TATT rs149331399 by1000genomes TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr1:246939610_246939611insTATT uc001ibs.1 + 1 c.296_297insTATT Homo sapiens cDNA FLJ12763 fis, clone NT2RP2001450. 0 GGGCATCTCTATATTTATTTTG 0.460 3 4 --- --- --- --- Unknown 0 broad.mit.edu 37 3 195438500 195438502 + RNA DEL AAG - - TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr3:195438500_195438502delAAG uc003fux.1 + 3 c.2487_2489delAAG Homo sapiens cDNA FLJ46488 fis, clone THYMU3026869. GAGGAGAATAAAGAAGAGAGCCT 0.567 7 5 --- --- --- --- ZSWIM6 57688 broad.mit.edu 37 5 60831400 60831400 + Frame_Shift_Del DEL C - - TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr5:60831400delC uc003jsr.2 + 10 2335 c.2335delC c.(2335-2337)CCTfs p.P779fs NM_020928 NP_065979 Q9HCJ5 ZSWM6_HUMAN zinc finger, SWIM-type containing 6 779 zinc ion binding 0 CTCTCTCCTACCTCACGATGC 0.502 4 2 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110461578 110461578 + Frame_Shift_Del DEL G - - TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr8:110461578delG uc003yne.2 + 40 6141 c.6037delG c.(6037-6039)GGGfs p.G2013fs NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2013 Extracellular (Potential).|IPT/TIG 13. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GAGCTTTGGTGGGGGTCAAAC 0.333 HNSCC(38;0.096) 20 12 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21971019 21971019 + Frame_Shift_Del DEL C - - TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr9:21971019delC uc003zpk.2 - 2 551 c.339delG c.(337-339)CTGfs p.L113fs MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Frame_Shift_Del_p.A169fs NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 113 ANK 4. 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.?(13)|p.H83fs*2(2)|p.L113L(1)|p.L113M(1)|p.A68fs*3(1)|p.L113P(1)|p.R112fs*32(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) GGTCCACGGGCAGACGGCCCC 0.726 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) 7 5 --- --- --- --- C10orf110 55853 broad.mit.edu 37 10 1089534 1089534 + Frame_Shift_Del DEL A - - TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr10:1089534delA uc001ifw.3 + 4 481 c.479delA c.(478-480)GAAfs p.E160fs C10orf110_uc010qaf.1_RNA|C10orf110_uc001ifx.3_RNA|C10orf110_uc001ify.3_RNA|IDI1_uc001ifz.2_Intron|IDI1_uc001iga.2_Intron|IDI1_uc001igb.2_Intron|IDI1_uc001igc.2_Intron NR_024628 Homo sapiens uncharacterized hypothalamus protein HT009 mRNA, complete cds. 0 CGAGTGAAGGAAATGGTGATG 0.517 4 2 --- --- --- --- ANXA11 311 broad.mit.edu 37 10 81928846 81928847 + Frame_Shift_Ins INS - G G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr10:81928846_81928847insG uc001kbq.1 - 6 1264_1265 c.439_440insC c.(439-441)CAGfs p.Q147fs ANXA11_uc010qlx.1_Frame_Shift_Ins_p.Q247fs|ANXA11_uc001kbr.1_Frame_Shift_Ins_p.Q147fs|ANXA11_uc001kbs.1_Frame_Shift_Ins_p.Q147fs|ANXA11_uc001kbt.1_Frame_Shift_Ins_p.Q147fs|ANXA11_uc010qly.1_Frame_Shift_Ins_p.Q114fs|ANXA11_uc009xsq.1_Frame_Shift_Ins_p.Q147fs|ANXA11_uc001kbu.1_Frame_Shift_Ins_p.Q147fs NM_145869 NP_665876 P50995 ANX11_HUMAN annexin A11 147 cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding ovary(1) 1 Prostate(51;0.00985)|all_epithelial(25;0.0951) Colorectal(32;0.109) CACTGGTGGCTGCCCAGGGTAG 0.698 4 2 --- --- --- --- Unknown 0 broad.mit.edu 37 12 52501561 52501562 + RNA INS - T T rs145272216 by1000genomes TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr12:52501561_52501562insT uc009zme.1 + 3 c.960_961insT Homo sapiens olfactory receptor, family 7, subfamily E, member 47 pseudogene, mRNA (cDNA clone IMAGE:5590288). GTTTTGCTGTCTTTTTTTTTTC 0.436 4 2 --- --- --- --- NRN1L 123904 broad.mit.edu 37 16 67920066 67920068 + In_Frame_Del DEL GCT - - TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr16:67920066_67920068delGCT uc002euu.2 + 3 428_430 c.402_404delGCT c.(400-405)ACGCTG>ACG p.L135del EDC4_uc002eut.1_3'UTR NM_198443 NP_940845 Q496H8 NRN1L_HUMAN neuritin 1-like precursor 135 anchored to membrane|plasma membrane central_nervous_system(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119) ACCAGGAGACGCTGCGGGCTACA 0.675 7 9 --- --- --- --- LOC651250 651250 broad.mit.edu 37 17 66122028 66122029 + RNA DEL AA - - TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr17:66122028_66122029delAA uc002jgq.2 + 6 c.1151_1152delAA LOC651250_uc002kit.2_RNA|LOC651250_uc002jgo.1_Intron NR_027418 Homo sapiens cDNA FLJ33831 fis, clone CTONG2003937. 0 TTCGTGAGCTaaaaaaaaaaaa 0.267 4 2 --- --- --- --- ZNF808 388558 broad.mit.edu 37 19 53066664 53066665 + RNA INS - AGTA AGTA rs151076736 by1000genomes TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 6a9cc303-c7fd-4f40-8933-1636dea99252 5d18da80-61b7-438b-9ad1-ac2e98d0e820 g.chr19:53066664_53066665insAGTA uc002pzq.2 + 4 c.3176_3177insAGTA Q8N4W9 ZN808_HUMAN Homo sapiens zinc finger protein 808, mRNA (cDNA clone IMAGE:3542548), complete cds. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) cacatgcctgcagtatcaacta 0.045 4 2 --- --- --- ---