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 SPEN 23013 broad.mit.edu 37 1 16255242 16255242 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr1:16255242C>T uc001axk.1 + 11 2711 c.2507C>T c.(2506-2508)TCA>TTA p.S836L SPEN_uc010obp.1_Missense_Mutation_p.S795L NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 836 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TCTCAGTCTTCAGAAACGGAC 0.448 22 61 --- --- --- --- PASS SDHB 6390 broad.mit.edu 37 1 17345379 17345379 + Silent SNP A C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr1:17345379A>C uc001bae.2 - 8 991 c.840T>G c.(838-840)GTT>GTG p.V280V NM_003000 NP_002991 P21912 DHSB_HUMAN succinate dehydrogenase complex, subunit B, iron 280 respiratory electron transport chain|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II 2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding breast(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19) Succinic acid(DB00139) GAAACAGTTAAACTGAAGCTT 0.333 Mis|N|F paraganglioma|pheochromocytoma Familial_Paragangliomas|Carney-Stratakis_syndrome|Cowden_syndrome 54 138 --- --- --- --- PASS PADI4 23569 broad.mit.edu 37 1 17668535 17668535 + Silent SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr1:17668535C>T uc001baj.2 + 7 778 c.750C>T c.(748-750)TAC>TAT p.Y250Y PADI4_uc009vpc.2_Silent_p.Y250Y NM_012387 NP_036519 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 250 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) TGGACTTCTACGTGGAGGCCC 0.607 15 50 --- --- --- --- PASS RPA2 6118 broad.mit.edu 37 1 28233712 28233712 + Missense_Mutation SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr1:28233712C>A uc001bpe.1 - 3 481 c.199G>T c.(199-201)GGG>TGG p.G67W RPA2_uc001bpd.1_Missense_Mutation_p.G75W|RPA2_uc010ofp.1_5'UTR NM_002946 NP_002937 P15927 RFA2_HUMAN replication protein A2, 32kDa 67 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor A complex|PML body protein phosphatase binding|single-stranded DNA binding skin(1) 1 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649) TCAACATTCCCAATTCTGAAC 0.353 Direct_reversal_of_damage|NER 41 156 --- --- --- --- PASS COL16A1 1307 broad.mit.edu 37 1 32154546 32154546 + Silent SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr1:32154546C>A uc001btk.1 - 25 2048 c.1683G>T c.(1681-1683)TCG>TCT p.S561S COL16A1_uc001btj.1_Silent_p.S390S|COL16A1_uc001btl.3_Silent_p.S561S NM_001856 NP_001847 Q07092 COGA1_HUMAN alpha 1 type XVI collagen precursor 561 Nonhelical region 8 (NC8). cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity ovary(8) 8 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) CCCCTACAACCGAGCTGCAGG 0.612 14 41 --- --- --- --- PASS BAI2 576 broad.mit.edu 37 1 32193848 32193848 + Missense_Mutation SNP G C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr1:32193848G>C uc001btn.2 - 31 4804 c.4450C>G c.(4450-4452)CTC>GTC p.L1484V BAI2_uc001btm.2_Missense_Mutation_p.L478V|BAI2_uc001btp.1_Missense_Mutation_p.L478V|BAI2_uc010ogn.1_Missense_Mutation_p.L454V|BAI2_uc010ogo.1_Missense_Mutation_p.L1093V|BAI2_uc010ogp.1_Missense_Mutation_p.L1417V|BAI2_uc010ogq.1_Missense_Mutation_p.L1450V|BAI2_uc001bto.2_Missense_Mutation_p.L1483V NM_001703 NP_001694 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 1484 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1) 13 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) TCGTGGTAGAGTTCTGAATGC 0.637 7 27 --- --- --- --- PASS KLF17 128209 broad.mit.edu 37 1 44596261 44596261 + Silent SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr1:44596261C>A uc001clp.2 + 3 1061 c.1003C>A c.(1003-1005)CGG>AGG p.R335R NM_173484 NP_775755 Q5JT82 KLF17_HUMAN zinc finger protein 393 335 C2H2-type 2. regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) ACGACATATGCGGGTACACAC 0.493 4 152 --- --- --- --- PASS ANGPTL3 27329 broad.mit.edu 37 1 63068003 63068003 + Missense_Mutation SNP T C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr1:63068003T>C uc001das.1 + 5 934 c.883T>C c.(883-885)TTC>CTC p.F295L DOCK7_uc001dan.2_Intron|DOCK7_uc001dao.2_Intron|DOCK7_uc001dap.2_Intron|DOCK7_uc001daq.2_Intron|DOCK7_uc009wah.1_Intron NM_014495 NP_055310 Q9Y5C1 ANGL3_HUMAN angiopoietin-like 3 precursor 295 Fibrinogen C-terminal. acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis extracellular space cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity 0 ATCACAAAACTTCAATGAAAC 0.294 3 153 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70484480 70484480 + Missense_Mutation SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr1:70484480C>A uc001dep.2 + 13 1315 c.1285C>A c.(1285-1287)CAG>AAG p.Q429K LRRC7_uc009wbg.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 429 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 CATGTTTCCCCAGCAGCCTCG 0.368 9 51 --- --- --- --- PASS ADAMTSL4 54507 broad.mit.edu 37 1 150526192 150526192 + Missense_Mutation SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr1:150526192C>A uc001eux.2 + 6 961 c.725C>A c.(724-726)CCC>CAC p.P242H ADAMTSL4_uc001euw.2_Missense_Mutation_p.P242H|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.P242H|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.P242H NM_019032 NP_061905 Q6UY14 ATL4_HUMAN thrombospondin repeat containing 1 isoform 1 242 apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding ovary(1)|skin(1) 2 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GAGGTGGCCCCCAGAACCAGG 0.632 4 74 --- --- --- --- PASS CREB3L4 148327 broad.mit.edu 37 1 153941878 153941878 + Missense_Mutation SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr1:153941878G>T uc001fdn.3 + 4 756 c.490G>T c.(490-492)GCC>TCC p.A164S SLC39A1_uc001fdl.2_5'Flank|CREB3L4_uc010pef.1_Missense_Mutation_p.A17S|CREB3L4_uc001fdo.3_Missense_Mutation_p.A144S|CREB3L4_uc001fdm.1_Missense_Mutation_p.A164S|CREB3L4_uc001fdp.1_Missense_Mutation_p.A144S|CREB3L4_uc010peg.1_3'UTR|CREB3L4_uc001fdr.2_Missense_Mutation_p.A164S|CREB3L4_uc001fdq.2_Missense_Mutation_p.A144S NM_130898 NP_570968 Q8TEY5 CR3L4_HUMAN cAMP responsive element binding protein 3-like 164 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TGATGCTCATGCCCACATCCT 0.532 27 63 --- --- --- --- PASS FCRL1 115350 broad.mit.edu 37 1 157771861 157771861 + Missense_Mutation SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr1:157771861G>T uc001frg.2 - 5 843 c.730C>A c.(730-732)CAC>AAC p.H244N FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Missense_Mutation_p.H244N|FCRL1_uc001fri.2_Missense_Mutation_p.H244N|FCRL1_uc001frj.2_RNA NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 244 Ig-like C2-type 3.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) ATATCCTCGTGATAAAACCAG 0.582 8 55 --- --- --- --- PASS METTL13 51603 broad.mit.edu 37 1 171756950 171756950 + Missense_Mutation SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr1:171756950G>A uc001ghz.2 + 4 1536 c.1189G>A c.(1189-1191)GAC>AAC p.D397N METTL13_uc001gia.2_Missense_Mutation_p.D311N|METTL13_uc001gib.2_Missense_Mutation_p.D241N|METTL13_uc010pml.1_Missense_Mutation_p.D396N NM_015935 NP_057019 Q8N6R0 MTL13_HUMAN CGI-01 protein isoform 1 397 methyltransferase activity|protein binding kidney(1) 1 CTTGAGCGGTGACTATGTCAT 0.552 12 41 --- --- --- --- PASS NPL 80896 broad.mit.edu 37 1 182775341 182775341 + Missense_Mutation SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr1:182775341G>T uc009wyb.2 + 5 344 c.204G>T c.(202-204)GAG>GAT p.E68D NPL_uc010pnx.1_Translation_Start_Site|NPL_uc010pny.1_RNA|NPL_uc001gpo.1_Translation_Start_Site|NPL_uc009wyc.2_Missense_Mutation_p.E68D|NPL_uc001gpp.3_Missense_Mutation_p.E68D|NPL_uc001gpq.1_Missense_Mutation_p.E68D NM_030769 NP_110396 Q9BXD5 NPL_HUMAN N-acetylneuraminate pyruvate lyase 68 carbohydrate metabolic process cytoplasm N-acetylneuraminate lyase activity ovary(1)|central_nervous_system(1)|skin(1) 3 AGGTTGCAGAGGAGTGGGTGA 0.522 8 30 --- --- --- --- PASS SYT2 127833 broad.mit.edu 37 1 202572184 202572184 + Silent SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr1:202572184C>T uc001gye.2 - 4 601 c.408G>A c.(406-408)GAG>GAA p.E136E SYT2_uc010pqb.1_Silent_p.E136E|SYT2_uc009xaf.2_5'UTR NM_001136504 NP_001129976 Q8N9I0 SYT2_HUMAN synaptotagmin II 136 Phospholipid binding (By similarity).|Cytoplasmic (Potential). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) GGTTCTCTGGCTCTTTCTCCT 0.572 25 100 --- --- --- --- PASS SYT2 127833 broad.mit.edu 37 1 202574736 202574736 + Silent SNP T G G TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr1:202574736T>G uc001gye.2 - 2 358 c.165A>C c.(163-165)ATA>ATC p.I55I SYT2_uc010pqb.1_Silent_p.I55I|SYT2_uc009xaf.2_Intron NM_001136504 NP_001129976 Q8N9I0 SYT2_HUMAN synaptotagmin II 55 Vesicular (Potential). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) GAATCTTGTTTATCTCATTGA 0.537 19 64 --- --- --- --- PASS CNTN2 6900 broad.mit.edu 37 1 205033505 205033505 + Silent SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr1:205033505C>A uc001hbr.2 + 11 1565 c.1296C>A c.(1294-1296)CGC>CGA p.R432R CNTN2_uc001hbq.1_Silent_p.R323R|CNTN2_uc001hbs.2_Silent_p.R220R NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 432 Ig-like C2-type 5. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CCGCGGCCCGCGGGGGAGAGA 0.612 80 123 --- --- --- --- PASS PM20D1 148811 broad.mit.edu 37 1 205813990 205813990 + Missense_Mutation SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr1:205813990C>A uc001hdj.2 - 4 570 c.525G>T c.(523-525)AGG>AGT p.R175S PM20D1_uc009xbr.2_RNA NM_152491 NP_689704 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 precursor 175 extracellular region metal ion binding|peptidase activity skin(1) 1 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) GGATGTACTTCCTGATCAGCA 0.493 22 65 --- --- --- --- PASS PLXNA2 5362 broad.mit.edu 37 1 208257880 208257880 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr1:208257880C>T uc001hgz.2 - 10 2901 c.2143G>A c.(2143-2145)GGG>AGG p.G715R NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 715 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) TTTACCTCCCCGACTGGAATC 0.572 16 101 --- --- --- --- PASS KCNH1 3756 broad.mit.edu 37 1 211093061 211093061 + Silent SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr1:211093061G>A uc001hib.2 - 7 1553 c.1383C>T c.(1381-1383)CTC>CTT p.L461L KCNH1_uc001hic.2_Silent_p.L434L NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 461 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CCACACTGGTGAGGCTGGTCA 0.507 34 112 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215848418 215848418 + Nonsense_Mutation SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr1:215848418G>A uc001hku.1 - 63 13222 c.12835C>T c.(12835-12837)CAA>TAA p.Q4279* NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4279 Fibronectin type-III 28.|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) AGCAGTTTTTGGGgattcata 0.358 HNSCC(13;0.011) 15 84 --- --- --- --- PASS PARP1 142 broad.mit.edu 37 1 226567635 226567635 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr1:226567635C>T uc001hqd.3 - 10 1702 c.1531G>A c.(1531-1533)GTC>ATC p.V511I NM_001618 NP_001609 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase family, member 1 511 Automodification domain. cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1) 10 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) TCCTCCTTGACCTGGCCCTTG 0.607 Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA 23 162 --- --- --- --- PASS KCNK1 3775 broad.mit.edu 37 1 233807193 233807193 + Missense_Mutation SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr1:233807193G>A uc010pxo.1 + 3 1096 c.928G>A c.(928-930)GGC>AGC p.G310S KCNK1_uc001hvw.2_RNA|KCNK1_uc001hvx.2_RNA NM_002245 NP_002236 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 310 Cytoplasmic (Potential). voltage-gated potassium channel complex inward rectifier potassium channel activity central_nervous_system(1) 1 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) CCAGGCAGCTGGCATGAAAGA 0.502 9 32 --- --- --- --- PASS FH 2271 broad.mit.edu 37 1 241669322 241669322 + Silent SNP T C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr1:241669322T>C uc001hyx.2 - 6 917 c.885A>G c.(883-885)GCA>GCG p.A295A NM_000143 NP_000134 P07954 FUMH_HUMAN fumarate hydratase precursor 295 fumarate metabolic process|tricarboxylic acid cycle cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex fumarate hydratase activity lung(3)|ovary(1)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118) OV - Ovarian serous cystadenocarcinoma(106;0.0214) Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109) CAGCCACTTTTGCAGCAACCT 0.413 Mis|N|F lieomyomatosis|renal Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer 35 56 --- --- --- --- PASS OR2T29 343563 broad.mit.edu 37 1 248722769 248722769 + Silent SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr1:248722769G>A uc001ieo.1 - 1 6 c.6C>T c.(4-6)GCC>GCT p.A2A NM_001004694 NP_001004694 Q8NH02 O2T29_HUMAN olfactory receptor, family 2, subfamily T, 8 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 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) CAGTGTGGTTGGCCATCCTGG 0.473 8 37 --- --- --- --- PASS MYT1L 23040 broad.mit.edu 37 2 1906962 1906962 + Missense_Mutation SNP T G G TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:1906962T>G uc002qxe.2 - 14 2749 c.1922A>C c.(1921-1923)TAT>TCT p.Y641S MYT1L_uc002qxd.2_Missense_Mutation_p.Y639S|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 641 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GGTCTTGGAATATTTCTCGAG 0.488 14 93 --- --- --- --- PASS MYT1L 23040 broad.mit.edu 37 2 1926988 1926988 + Missense_Mutation SNP C G G TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:1926988C>G uc002qxe.2 - 10 1380 c.553G>C c.(553-555)GAA>CAA p.E185Q MYT1L_uc002qxd.2_Missense_Mutation_p.E185Q|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 185 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TCATCCTTTTCTGTGTCTTGC 0.333 3 18 --- --- --- --- PASS DDX1 1653 broad.mit.edu 37 2 15760450 15760450 + Missense_Mutation SNP A T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:15760450A>T uc002rce.2 + 17 1613 c.1325A>T c.(1324-1326)CAC>CTC p.H442L DDX1_uc010yjq.1_Missense_Mutation_p.H350L NM_004939 NP_004930 Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 442 Necessary for interaction with RELA. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) GATACTGTACACCATGTTGTT 0.378 20 86 --- --- --- --- PASS ASXL2 55252 broad.mit.edu 37 2 25966231 25966231 + Missense_Mutation SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:25966231G>A uc002rgs.2 - 12 3196 c.2975C>T c.(2974-2976)GCG>GTG p.A992V ASXL2_uc002rgt.1_Intron NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 992 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGCTATGAGCGCTCCCATCCC 0.483 52 41 --- --- --- --- PASS C2orf16 84226 broad.mit.edu 37 2 27799449 27799449 + Missense_Mutation SNP A C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:27799449A>C uc002rkz.3 + 1 61 c.10A>C c.(10-12)ACA>CCA p.T4P NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 4 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) TATGGAGCTGACACCAGGGGC 0.433 6 38 --- --- --- --- PASS TRMT61B 55006 broad.mit.edu 37 2 29093054 29093054 + Silent SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:29093054C>T uc002rmm.2 - 1 122 c.90G>A c.(88-90)GAG>GAA p.E30E TRMT61B_uc002rmn.2_Silent_p.E30E|TRMT61B_uc010ezk.2_RNA NM_017910 NP_060380 Q9BVS5 TR61B_HUMAN tRNA methyltransferase 61 homolog B 30 tRNA (adenine-N1-)-methyltransferase activity 0 CCTCGAAGGGCTCCTGCCCCA 0.617 4 36 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32836642 32836642 + Missense_Mutation SNP C G G TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:32836642C>G uc010ezu.2 + 73 14521 c.14387C>G c.(14386-14388)GCT>GGT p.A4796G NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4796 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) CATGCAGCAGCTCTCAAGGTG 0.483 39 27 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 50573836 50573836 + Silent SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:50573836G>T uc010fbp.2 - 1 1059 c.252C>A c.(250-252)GGC>GGA p.G84G NRXN1_uc002rxb.3_Intron|NRXN1_uc010fbq.2_Intron|NRXN1_uc002rxe.3_Intron|NRXN1_uc002rxc.1_Intron NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 84 Extracellular (Potential). angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CACCGTGTCCGCCTCGCAAGG 0.572 17 65 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 51253554 51253554 + Nonsense_Mutation SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:51253554G>A uc010fbq.2 - 3 2303 c.826C>T c.(826-828)CAA>TAA p.Q276* NRXN1_uc002rxe.3_Intron|NRXN1_uc002rxd.1_Intron NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:Variant_position_missing_in_P58400_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TATTTTCCTTGGTCATTGTCA 0.378 3 23 --- --- --- --- PASS VRK2 7444 broad.mit.edu 37 2 58366957 58366957 + Missense_Mutation SNP A C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:58366957A>C uc002rzo.2 + 14 1758 c.1013A>C c.(1012-1014)AAC>ACC p.N338T VRK2_uc010fcb.2_Missense_Mutation_p.N338T|VRK2_uc002rzs.2_Missense_Mutation_p.N338T|VRK2_uc002rzr.2_Missense_Mutation_p.N338T|VRK2_uc010fcc.2_Missense_Mutation_p.N220T|VRK2_uc002rzv.2_Missense_Mutation_p.N338T|VRK2_uc010fcd.2_Missense_Mutation_p.N315T|VRK2_uc002rzp.2_Missense_Mutation_p.N338T|VRK2_uc010ypg.1_Missense_Mutation_p.N338T|VRK2_uc002rzq.2_Missense_Mutation_p.N338T|VRK2_uc002rzu.2_Missense_Mutation_p.N338T|VRK2_uc002rzt.2_Missense_Mutation_p.N220T NM_001130482 NP_001123954 Q86Y07 VRK2_HUMAN vaccinia related kinase 2 isoform 2 338 integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 CATACTCCAAACAGTCAAAAA 0.353 17 87 --- --- --- --- PASS PELI1 57162 broad.mit.edu 37 2 64331869 64331869 + Missense_Mutation SNP G C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:64331869G>C uc002scs.3 - 2 4206 c.167C>G c.(166-168)ACT>AGT p.T56S PELI1_uc002sct.3_Missense_Mutation_p.T56S|PELI1_uc002scu.1_RNA NM_020651 NP_065702 Q96FA3 PELI1_HUMAN pellino protein 56 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ovary(1) 1 AATATGCACAGTGCTGGGCTT 0.378 18 111 --- --- --- --- PASS SLC4A5 57835 broad.mit.edu 37 2 74474421 74474421 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:74474421C>T uc002sko.1 - 14 1803 c.1801G>A c.(1801-1803)GAC>AAC p.D601N SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.D601N|SLC4A5_uc010ffc.1_Missense_Mutation_p.D601N|SLC4A5_uc002skp.1_Missense_Mutation_p.D537N|SLC4A5_uc002sks.1_Missense_Mutation_p.D601N NM_021196 NP_067019 Q9BY07 S4A5_HUMAN sodium bicarbonate transporter 4 isoform a 601 Cytoplasmic (Potential). apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 9 TCCATGTAGTCCAGGCCATTG 0.557 8 61 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89545004 89545004 + RNA SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:89545004G>A uc010ytr.1 - 13 c.1607C>T uc002stl.2_Intron Parts of antibodies, mostly variable regions. CCCTTACCTGGGACCCAGAGC 0.567 8 29 --- --- --- --- PASS ASTL 431705 broad.mit.edu 37 2 96799269 96799269 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:96799269C>T uc010yui.1 - 5 350 c.350G>A c.(349-351)CGC>CAC p.R117H NM_001002036 NP_001002036 Q6HA08 ASTL_HUMAN astacin-like metalloendopeptidase precursor 117 proteolysis metalloendopeptidase activity|zinc ion binding 0 GATGACCTGGCGGCTGGGCTC 0.567 17 67 --- --- --- --- PASS IL18RAP 8807 broad.mit.edu 37 2 103040576 103040576 + Missense_Mutation SNP T A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:103040576T>A uc002tbx.2 + 4 860 c.376T>A c.(376-378)TGT>AGT p.C126S IL18RAP_uc010fiz.2_Intron NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 126 Extracellular (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 GTCATATATTTGTAGACCCAA 0.353 12 109 --- --- --- --- PASS FOXD4L1 200350 broad.mit.edu 37 2 114257312 114257312 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:114257312C>T uc002tjw.3 + 1 652 c.479C>T c.(478-480)TCG>TTG p.S160L NM_012184 NP_036316 Q9NU39 FX4L1_HUMAN forkhead box D4-like 1 160 Fork-head. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 CACAACCTCTCGCTGAACGAC 0.647 8 229 --- --- --- --- PASS THSD7B 80731 broad.mit.edu 37 2 138030207 138030207 + Missense_Mutation SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:138030207G>A uc002tva.1 + 10 2278 c.2278G>A c.(2278-2280)GAT>AAT p.D760N THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.D650N NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) AGAGTGTGAAGATGTTTCCTT 0.388 15 25 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141819824 141819824 + Silent SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:141819824G>A uc002tvj.1 - 8 2004 c.1032C>T c.(1030-1032)GAC>GAT p.D344D LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 344 Extracellular (Potential).|LDL-receptor class B 3. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CATTCCCGTAGTCAGTAAAGA 0.443 TSP Lung(27;0.18) 4 45 --- --- --- --- PASS TTC21B 79809 broad.mit.edu 37 2 166758329 166758329 + Missense_Mutation SNP C G G TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:166758329C>G uc002udk.2 - 20 2793 c.2660G>C c.(2659-2661)TGT>TCT p.C887S NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 887 TPR 13. cilium axoneme|cytoplasm|cytoskeleton binding ovary(2)|pancreas(2)|breast(1) 5 AATCTCTGCACAAATTTCAGC 0.408 46 52 --- --- --- --- PASS SCN9A 6335 broad.mit.edu 37 2 167141004 167141004 + Silent SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:167141004G>A uc010fpl.2 - 12 2274 c.1933C>T c.(1933-1935)CTG>TTG p.L645L uc002udp.2_Intron|SCN9A_uc002udr.1_Silent_p.L516L|SCN9A_uc002uds.1_Silent_p.L516L|SCN9A_uc002udt.1_Silent_p.L516L NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 645 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) ACCTCTGGCAGAAGCTGTCCA 0.542 8 27 --- --- --- --- PASS ABCB11 8647 broad.mit.edu 37 2 169792886 169792886 + Missense_Mutation SNP T G G TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:169792886T>G uc002ueo.1 - 22 2794 c.2668A>C c.(2668-2670)ATG>CTG p.M890L ABCB11_uc010zda.1_Missense_Mutation_p.M332L|ABCB11_uc010zdb.1_Missense_Mutation_p.M366L NM_003742 NP_003733 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 890 Helical; (Potential).|ABC transmembrane type-1 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism ovary(2)|large_intestine(2)|breast(1) 5 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) GCAATGATCATGGCCACAGTG 0.507 17 123 --- --- --- --- PASS PPIG 9360 broad.mit.edu 37 2 170493661 170493661 + Silent SNP A T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:170493661A>T uc002uez.2 + 14 2113 c.1893A>T c.(1891-1893)TCA>TCT p.S631S PPIG_uc010fpx.2_Silent_p.S616S|PPIG_uc010fpy.2_Silent_p.S624S|PPIG_uc002ufb.2_Silent_p.S631S|PPIG_uc002ufd.2_Silent_p.S628S NM_004792 NP_004783 Q13427 PPIG_HUMAN peptidylprolyl isomerase G 631 Arg/Ser-rich (RS domain). protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|central_nervous_system(1) 3 L-Proline(DB00172) CACGGAGCTCAGAGAGAGAAG 0.438 7 65 --- --- --- --- PASS METTL8 79828 broad.mit.edu 37 2 172216968 172216968 + Missense_Mutation SNP C G G rs112550880 TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:172216968C>G uc010zdo.1 - 3 340 c.199G>C c.(199-201)GAA>CAA p.E67Q METTL8_uc002ugu.3_Missense_Mutation_p.E67Q|METTL8_uc002ugv.3_Missense_Mutation_p.E67Q|METTL8_uc002ugt.3_Missense_Mutation_p.E67Q|METTL8_uc002ugs.3_Missense_Mutation_p.E17Q|METTL8_uc010zdp.1_Missense_Mutation_p.E22Q NM_024770 NP_079046 B3KW44 B3KW44_HUMAN methyltransferase like 8 67 methyltransferase activity ovary(1) 1 GCTGAGTTTTCTTTTACTTTT 0.418 17 83 --- --- --- --- PASS HOXD3 3232 broad.mit.edu 37 2 177036830 177036830 + Missense_Mutation SNP T A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:177036830T>A uc002ukt.1 + 3 1303 c.1127T>A c.(1126-1128)CTG>CAG p.L376Q NM_006898 NP_008829 P31249 HXD3_HUMAN homeobox D3 376 anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) GTCTTCAACCTGGGCCACCTC 0.687 4 38 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179413936 179413936 + Missense_Mutation SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:179413936G>A uc010zfg.1 - 288 84937 c.84713C>T c.(84712-84714)GCA>GTA p.A28238V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A21933V|TTN_uc010zfi.1_Missense_Mutation_p.A21866V|TTN_uc010zfj.1_Missense_Mutation_p.A21741V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29165 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) GATGCCACTTGCAGGTCCAAC 0.468 35 52 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179471837 179471837 + Missense_Mutation SNP T C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:179471837T>C uc010zfg.1 - 227 46012 c.45788A>G c.(45787-45789)CAA>CGA p.Q15263R uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q8958R|TTN_uc010zfi.1_Missense_Mutation_p.Q8891R|TTN_uc010zfj.1_Missense_Mutation_p.Q8766R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16190 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) CTTATATTCTTGTCCCTCAAG 0.413 25 313 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196765213 196765213 + Silent SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr2:196765213G>T uc002utj.3 - 28 4442 c.4341C>A c.(4339-4341)CTC>CTA p.L1447L NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1447 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 CTGTCCGAAAGAGAGCCTATG 0.303 22 110 --- --- --- --- PASS MYRIP 25924 broad.mit.edu 37 3 40286056 40286056 + Silent SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr3:40286056G>A uc003cka.2 + 13 2355 c.2220G>A c.(2218-2220)CAG>CAA p.Q740Q MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Silent_p.Q675Q|MYRIP_uc010hhw.2_Silent_p.Q651Q|MYRIP_uc011ayz.1_Silent_p.Q553Q|uc003ckb.2_Intron NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 740 Actin-binding. intracellular protein transport actin binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) TGGAGGACCAGGTGGCCACGG 0.607 10 41 --- --- --- --- PASS NKTR 4820 broad.mit.edu 37 3 42680326 42680326 + Missense_Mutation SNP G C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr3:42680326G>C uc003clo.2 + 13 3277 c.3130G>C c.(3130-3132)GTT>CTT p.V1044L NKTR_uc003clm.1_Missense_Mutation_p.V791L|NKTR_uc003clp.2_Missense_Mutation_p.V791L|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.V934L|NKTR_uc003clr.1_Missense_Mutation_p.V791L|NKTR_uc003cls.2_Missense_Mutation_p.V744L NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1044 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) AGAGAAAAAAGTTTCTGAAAA 0.373 9 84 --- --- --- --- PASS VPRBP 9730 broad.mit.edu 37 3 51517747 51517747 + Missense_Mutation SNP G C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr3:51517747G>C uc003dbe.1 - 3 266 c.98C>G c.(97-99)CCT>CGT p.P33R VPRBP_uc003dbg.1_Missense_Mutation_p.P33R NM_014703 NP_055518 Q9Y4B6 VPRBP_HUMAN HIV-1 Vpr binding protein 33 interspecies interaction between organisms cytoplasm|nucleus protein binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) GGTAAGGATAGGTACCATGTC 0.398 36 108 --- --- --- --- PASS KCTD6 200845 broad.mit.edu 37 3 58486964 58486964 + Missense_Mutation SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr3:58486964G>A uc003dkj.3 + 3 436 c.319G>A c.(319-321)GAT>AAT p.D107N KCTD6_uc003dki.3_Missense_Mutation_p.D107N|KCTD6_uc003dkk.3_Missense_Mutation_p.D107N NM_001128214 NP_001121686 Q8NC69 KCTD6_HUMAN potassium channel tetramerisation domain 107 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148) GTGTCTCAATGATCCTAAGCC 0.413 31 102 --- --- --- --- PASS CADPS 8618 broad.mit.edu 37 3 62477987 62477987 + Silent SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr3:62477987C>T uc003dll.2 - 20 3222 c.2862G>A c.(2860-2862)CTG>CTA p.L954L CADPS_uc003dlk.1_Silent_p.L451L|CADPS_uc003dlm.2_Silent_p.L964L|CADPS_uc003dln.2_Silent_p.L924L NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 954 MHD1.|Interaction with DRD2. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) GAAAATCATTCAGCAGCTGAA 0.433 113 100 --- --- --- --- PASS OR5AC2 81050 broad.mit.edu 37 3 97806143 97806143 + Missense_Mutation SNP G C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr3:97806143G>C uc011bgs.1 + 1 127 c.127G>C c.(127-129)GGC>CGC p.G43R NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, 43 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CACCATGGTGGGCAACCTTGG 0.448 53 369 --- --- --- --- PASS OR5AC2 81050 broad.mit.edu 37 3 97806144 97806144 + Missense_Mutation SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr3:97806144G>T uc011bgs.1 + 1 128 c.128G>T c.(127-129)GGC>GTC p.G43V NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, 43 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 ACCATGGTGGGCAACCTTGGA 0.448 54 370 --- --- --- --- PASS OR5H2 79310 broad.mit.edu 37 3 98002381 98002381 + Missense_Mutation SNP T C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr3:98002381T>C uc003dsj.1 + 1 650 c.650T>C c.(649-651)GTG>GCG p.V217A NM_001005482 NP_001005482 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, 217 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 TTCACCATTGTGACAGTTCTT 0.363 56 112 --- --- --- --- PASS SENP7 57337 broad.mit.edu 37 3 101044876 101044876 + Missense_Mutation SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr3:101044876G>T uc003dut.2 - 24 3175 c.3064C>A c.(3064-3066)CCT>ACT p.P1022T SENP7_uc003duu.2_Missense_Mutation_p.P957T|SENP7_uc003duv.2_Missense_Mutation_p.P989T|SENP7_uc003duw.2_Missense_Mutation_p.P956T|SENP7_uc003dux.2_Missense_Mutation_p.P858T|SENP7_uc003dus.2_Missense_Mutation_p.P210T NM_020654 NP_065705 Q9BQF6 SENP7_HUMAN sentrin/SUMO-specific protease 7 isoform 1 1022 Protease. proteolysis nucleus cysteine-type peptidase activity ovary(3)|lung(2) 5 ACATGACGAGGAAACCACTTC 0.363 15 125 --- --- --- --- PASS BBX 56987 broad.mit.edu 37 3 107492179 107492179 + Missense_Mutation SNP A C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr3:107492179A>C uc010hpr.2 + 11 1938 c.1611A>C c.(1609-1611)AAA>AAC p.K537N BBX_uc003dwk.3_Missense_Mutation_p.K537N|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.K558N|BBX_uc003dwm.3_Missense_Mutation_p.K537N|BBX_uc003dwo.3_5'Flank NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 537 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) GAGAGAAGAAAATGTCAAAGG 0.448 11 92 --- --- --- --- PASS KIAA1524 57650 broad.mit.edu 37 3 108278663 108278663 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr3:108278663C>T uc003dxb.3 - 16 2223 c.1954G>A c.(1954-1956)GCA>ACA p.A652T NM_020890 NP_065941 Q8TCG1 CIP2A_HUMAN p90 autoantigen 652 Potential. cytoplasm|integral to membrane protein binding ovary(2)|central_nervous_system(1) 3 TCAGCCTGTGCAAGGGCTAGA 0.353 12 93 --- --- --- --- PASS POLQ 10721 broad.mit.edu 37 3 121151797 121151797 + Silent SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr3:121151797G>A uc003eee.3 - 29 7756 c.7627C>T c.(7627-7629)CTA>TTA p.L2543L POLQ_uc003eed.2_Silent_p.L1715L NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 2543 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) ACTTCATATAGGAGTTCATCA 0.428 DNA_polymerases_(catalytic_subunits) 6 66 --- --- --- --- PASS IFT122 55764 broad.mit.edu 37 3 129207101 129207101 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr3:129207101C>T uc003emm.2 + 16 2059 c.1853C>T c.(1852-1854)TCC>TTC p.S618F IFT122_uc003eml.2_Missense_Mutation_p.S669F|IFT122_uc003emn.2_Missense_Mutation_p.S559F|IFT122_uc003emo.2_Missense_Mutation_p.S507F|IFT122_uc003emp.2_Missense_Mutation_p.S468F|IFT122_uc010htc.2_Missense_Mutation_p.S610F|IFT122_uc011bky.1_Missense_Mutation_p.S409F|IFT122_uc003emq.2_Missense_Mutation_p.S458F|IFT122_uc003emr.2_Missense_Mutation_p.S409F|IFT122_uc011bla.1_Missense_Mutation_p.S409F|IFT122_uc010hte.2_5'UTR|IFT122_uc003ems.2_Missense_Mutation_p.S17F|IFT122_uc011bkx.1_Missense_Mutation_p.S458F|IFT122_uc011bkz.1_RNA|IFT122_uc010htd.1_Missense_Mutation_p.S97F NM_052989 NP_443715 Q9HBG6 IF122_HUMAN WD repeat domain 10 isoform 2 618 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium ovary(1)|skin(1) 2 ATCCTGCAGTCCGCTCCCATG 0.488 26 88 --- --- --- --- PASS COL6A6 131873 broad.mit.edu 37 3 130287388 130287388 + Missense_Mutation SNP T A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr3:130287388T>A uc010htl.2 + 5 2372 c.2341T>A c.(2341-2343)TTT>ATT p.F781I NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 781 Nonhelical region.|VWFA 4. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 TGTTGAGAATTTTGACATTCT 0.463 25 109 --- --- --- --- PASS CP 1356 broad.mit.edu 37 3 148925286 148925286 + Silent SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr3:148925286G>A uc003ewy.3 - 5 1153 c.900C>T c.(898-900)CAC>CAT p.H300H CP_uc011bnr.1_RNA|CP_uc003ewx.3_Silent_p.H81H|CP_uc003ewz.2_Silent_p.H300H|CP_uc010hvf.1_Silent_p.H26H NM_000096 NP_000087 P00450 CERU_HUMAN ceruloplasmin precursor 300 F5/8 type A 1.|Plastocyanin-like 2. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity ovary(1) 1 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) GTGCTTGCCCGTGAAAGAAAG 0.458 22 88 --- --- --- --- PASS PLCH1 23007 broad.mit.edu 37 3 155211982 155211982 + Silent SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr3:155211982G>A uc011bok.1 - 16 2371 c.2094C>T c.(2092-2094)TTC>TTT p.F698F PLCH1_uc011boj.1_Silent_p.F698F|PLCH1_uc011bol.1_Silent_p.F680F NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 698 PI-PLC Y-box. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CATTTGCCTTGAATTTGGCTC 0.408 22 80 --- --- --- --- PASS SLC2A2 6514 broad.mit.edu 37 3 170732477 170732477 + Missense_Mutation SNP T C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr3:170732477T>C uc003fhe.1 - 3 461 c.152A>G c.(151-153)GAT>GGT p.D51G SLC2A2_uc003fhf.1_5'UTR|SLC2A2_uc011bpu.1_Intron NM_000340 NP_000331 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose 51 Extracellular (Potential). carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) TTTTCGGTCATCCAGTGGAAC 0.358 31 145 --- --- --- --- PASS PLD1 5337 broad.mit.edu 37 3 171330190 171330190 + Nonsense_Mutation SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr3:171330190C>A uc003fhs.2 - 25 2877 c.2761G>T c.(2761-2763)GGA>TGA p.G921* PLD1_uc003fht.2_Nonsense_Mutation_p.G883*|PLD1_uc003fhu.3_Nonsense_Mutation_p.G215* NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 921 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) TCACGCTTTCCCAGCATGCTG 0.423 15 98 --- --- --- --- PASS PLD1 5337 broad.mit.edu 37 3 171330191 171330191 + Silent SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr3:171330191C>A uc003fhs.2 - 25 2876 c.2760G>T c.(2758-2760)CTG>CTT p.L920L PLD1_uc003fht.2_Silent_p.L882L|PLD1_uc003fhu.3_Silent_p.L214L NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 920 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) CACGCTTTCCCAGCATGCTGC 0.418 15 96 --- --- --- --- PASS CCDC39 339829 broad.mit.edu 37 3 180334415 180334415 + Missense_Mutation SNP G C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr3:180334415G>C uc010hxe.2 - 18 2590 c.2475C>G c.(2473-2475)GAC>GAG p.D825E CCDC39_uc003fkn.2_RNA|TTC14_uc003fkm.2_Intron NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 825 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) GAAGTTTGATGTCTTGTTCTT 0.303 4 37 --- --- --- --- PASS C3orf59 151963 broad.mit.edu 37 3 192517160 192517160 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr3:192517160C>T uc011bsp.1 - 2 812 c.491G>A c.(490-492)TGC>TAC p.C164Y NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN hypothetical protein LOC151963 164 0 all_cancers(143;1.56e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06) GBM - Glioblastoma multiforme(46;3.86e-05) AATGGTGCAGCAGTCTTTCCA 0.488 15 120 --- --- --- --- PASS ATP8A1 10396 broad.mit.edu 37 4 42581886 42581886 + Missense_Mutation SNP C G G TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr4:42581886C>G uc003gwr.2 - 11 1176 c.944G>C c.(943-945)GGC>GCC p.G315A ATP8A1_uc003gws.2_Missense_Mutation_p.G315A|ATP8A1_uc011byz.1_Missense_Mutation_p.G315A NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), 315 Helical; (Potential). ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity skin(2)|central_nervous_system(1) 3 Phosphatidylserine(DB00144) AATGGCTGAGCCCACAGAACA 0.363 10 37 --- --- --- --- PASS RUFY3 22902 broad.mit.edu 37 4 71670132 71670132 + Missense_Mutation SNP A C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr4:71670132A>C uc003hfr.2 + 17 2313 c.1718A>C c.(1717-1719)AAG>ACG p.K573T RUFY3_uc011cay.1_Missense_Mutation_p.K509T NM_001037442 NP_001032519 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 isoform 1 Error:Variant_position_missing_in_Q7L099_after_alignment negative regulation of axonogenesis filopodium|growth cone 0 all_hematologic(202;0.248) Lung(101;0.235) AGCCTAACAAAGGTAACTGTG 0.512 10 34 --- --- --- --- PASS ARHGEF38 54848 broad.mit.edu 37 4 106534556 106534556 + Missense_Mutation SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr4:106534556G>T uc003hxu.2 + 3 546 c.400G>T c.(400-402)GTG>TTG p.V134L NM_017700 NP_060170 Q9NXL2 ARH38_HUMAN hypothetical protein LOC54848 134 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|breast(1) 3 TAGGCTGGATGTGGATAGCTT 0.438 31 94 --- --- --- --- PASS RPL34 6164 broad.mit.edu 37 4 109543360 109543360 + Silent SNP G T T rs114737869 byFrequency TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr4:109543360G>T uc003hyz.2 + 3 209 c.165G>T c.(163-165)GGG>GGT p.G55G LOC285456_uc003hyy.2_5'Flank|LOC285456_uc011cfl.1_5'Flank|RPL34_uc003hza.2_Silent_p.G55G NM_000995 NP_000986 P49207 RL34_HUMAN ribosomal protein L34 55 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000286) GACTTCGAGGGGTAAGTGTAC 0.458 13 34 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114279464 114279464 + Silent SNP G C C rs147826317 TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr4:114279464G>C uc003ibe.3 + 38 9790 c.9690G>C c.(9688-9690)ACG>ACC p.T3230T ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Silent_p.T532T|ANK2_uc011cgb.1_Silent_p.T3245T NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 3197 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CCGTGCAAACGGGTGATATAC 0.488 22 65 --- --- --- --- PASS PRDM5 11107 broad.mit.edu 37 4 121698419 121698419 + Missense_Mutation SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr4:121698419C>A uc003idn.2 - 13 1711 c.1461G>T c.(1459-1461)AAG>AAT p.K487N PRDM5_uc003ido.2_Missense_Mutation_p.K456N|PRDM5_uc010ine.2_Missense_Mutation_p.K456N NM_018699 NP_061169 Q9NQX1 PRDM5_HUMAN PR domain containing 5 487 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 AGATTTTCTCCTTTTCTCCTG 0.378 39 82 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187539071 187539071 + Missense_Mutation SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr4:187539071G>A uc003izf.2 - 10 8857 c.8669C>T c.(8668-8670)TCA>TTA p.S2890L NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2890 Extracellular (Potential).|Cadherin 26. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 ACCATGATCTGATGCAACCAC 0.428 HNSCC(5;0.00058) 15 26 --- --- --- --- PASS SLC6A3 6531 broad.mit.edu 37 5 1406353 1406353 + Missense_Mutation SNP T A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr5:1406353T>A uc003jck.2 - 12 1670 c.1549A>T c.(1549-1551)AGC>TGC p.S517C NM_001044 NP_001035 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter 517 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body ovary(3)|breast(2)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) CAGTACAGGCTGGGCCGCTGC 0.657 48 45 --- --- --- --- PASS SEMA5A 9037 broad.mit.edu 37 5 9066614 9066614 + Missense_Mutation SNP G C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr5:9066614G>C uc003jek.2 - 17 2930 c.2218C>G c.(2218-2220)CCG>GCG p.P740A NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 740 TSP type-1 4.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 AGCAAATTCGGATCAGCCAGG 0.557 20 179 --- --- --- --- PASS TAS2R1 50834 broad.mit.edu 37 5 9629815 9629815 + Silent SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr5:9629815G>A uc003jem.1 - 1 649 c.330C>T c.(328-330)GTC>GTT p.V110V NM_019599 NP_062545 Q9NYW7 TA2R1_HUMAN taste receptor T2R1 110 Cytoplasmic (Potential). chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity ovary(3) 3 GTGGGTGACGGACGCTGGCAA 0.448 7 23 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13841814 13841814 + Missense_Mutation SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr5:13841814G>A uc003jfd.2 - 33 5513 c.5471C>T c.(5470-5472)TCC>TTC p.S1824F NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1824 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) AGCAGGGAAGGATGAAAGAAA 0.279 Kartagener_syndrome 9 71 --- --- --- --- PASS TARS 6897 broad.mit.edu 37 5 33455798 33455798 + Missense_Mutation SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr5:33455798G>T uc003jhy.2 + 6 977 c.682G>T c.(682-684)GCA>TCA p.A228S TARS_uc011cob.1_Missense_Mutation_p.A216S|TARS_uc010iup.1_Missense_Mutation_p.A169S|TARS_uc011coc.1_Missense_Mutation_p.A249S|TARS_uc003jhz.2_Missense_Mutation_p.A124S|TARS_uc011cod.1_Missense_Mutation_p.A107S NM_152295 NP_689508 P26639 SYTC_HUMAN threonyl-tRNA synthetase 228 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity ovary(2) 2 L-Threonine(DB00156) AACTTTACTGGCAATGTTTAA 0.373 33 55 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33630995 33630995 + Nonsense_Mutation SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr5:33630995G>A uc003jia.1 - 13 2075 c.1912C>T c.(1912-1914)CGA>TGA p.R638* ADAMTS12_uc010iuq.1_Intron NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 638 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TCTATGGGTCGGCAGTAGAGC 0.473 HNSCC(64;0.19) 5 76 --- --- --- --- PASS SPEF2 79925 broad.mit.edu 37 5 35694425 35694425 + Silent SNP A T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr5:35694425A>T uc003jjo.2 + 13 2046 c.1935A>T c.(1933-1935)TCA>TCT p.S645S SPEF2_uc003jjq.3_Silent_p.S645S|SPEF2_uc003jjp.1_Silent_p.S136S NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 645 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTCCAGTTTCAGATGAAGTAT 0.343 6 43 --- --- --- --- PASS MAP1B 4131 broad.mit.edu 37 5 71490073 71490073 + Silent SNP C G G TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr5:71490073C>G uc003kbw.3 + 5 1132 c.891C>G c.(889-891)CTC>CTG p.L297L MAP1B_uc010iyw.1_Silent_p.L314L|MAP1B_uc010iyx.1_Silent_p.L171L|MAP1B_uc010iyy.1_Silent_p.L171L NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 297 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TCTGGAAGCTCATCCGACACT 0.483 46 46 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127648397 127648397 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr5:127648397C>T uc003kuu.2 - 37 5247 c.4808G>A c.(4807-4809)CGC>CAC p.R1603H NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1603 TB 6. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GCATGAAGAGCGACTGACGCC 0.552 10 363 --- --- --- --- PASS PCDHA7 56141 broad.mit.edu 37 5 140215054 140215054 + Silent SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr5:140215054C>T uc003lhq.2 + 1 1086 c.1086C>T c.(1084-1086)GAC>GAT p.D362D PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.D362D NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 362 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCCAGAGGACGCCCAACCAG 0.517 27 83 --- --- --- --- PASS NMUR2 56923 broad.mit.edu 37 5 151784573 151784573 + Silent SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr5:151784573G>A uc003luv.2 - 1 268 c.102C>T c.(100-102)GCC>GCT p.A34A NM_020167 NP_064552 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 34 Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1) 8 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) CGCAGAGGAAGGCCAGATACT 0.527 15 38 --- --- --- --- PASS TRIM41 90933 broad.mit.edu 37 5 180660676 180660676 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr5:180660676C>T uc003mne.1 + 5 1898 c.1204C>T c.(1204-1206)CCT>TCT p.P402S uc003mnb.1_5'Flank|TRIM41_uc003mnc.1_3'UTR|TRIM41_uc003mnd.1_Missense_Mutation_p.P402S|TRIM41_uc003mnf.1_RNA|TRIM41_uc003mng.1_5'UTR NM_033549 NP_291027 Q8WV44 TRI41_HUMAN tripartite motif-containing 41 isoform 1 402 cytoplasm|nucleus ligase activity|protein binding|zinc ion binding 0 all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGTCTGGTCCCCTGACCCGTG 0.592 5 70 --- --- --- --- PASS ZKSCAN3 80317 broad.mit.edu 37 6 28327435 28327435 + Silent SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr6:28327435C>T uc003nle.3 + 2 288 c.72C>T c.(70-72)GTC>GTT p.V24V ZKSCAN3_uc010jrc.2_Silent_p.V24V|ZKSCAN3_uc003nlf.3_Intron NM_024493 NP_077819 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 24 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 AGCTTCTGGTCATAAAGGTGG 0.572 100 59 --- --- --- --- PASS DAAM2 23500 broad.mit.edu 37 6 39869080 39869080 + Missense_Mutation SNP C A A rs148294935 by1000genomes TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr6:39869080C>A uc003oow.2 + 24 2970 c.2814C>A c.(2812-2814)TTC>TTA p.F938L DAAM2_uc003oox.2_Missense_Mutation_p.F937L NM_015345 NP_056160 Q86T65 DAAM2_HUMAN dishevelled associated activator of 938 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2)|skin(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) CTTGACAGTTCGCCAAGGCCT 0.572 5 212 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51640615 51640615 + Nonsense_Mutation SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr6:51640615C>A uc003pah.1 - 54 8821 c.8545G>T c.(8545-8547)GGA>TGA p.G2849* PKHD1_uc010jzn.1_Nonsense_Mutation_p.G832*|PKHD1_uc003pai.2_Nonsense_Mutation_p.G2849* NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 2849 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) CCAATTGTTCCTGGGTCAATA 0.303 34 57 --- --- --- --- PASS C6orf165 154313 broad.mit.edu 37 6 88125496 88125496 + Nonsense_Mutation SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr6:88125496G>T uc003plv.2 + 5 468 c.376G>T c.(376-378)GAA>TAA p.E126* C6orf165_uc003plw.2_5'UTR|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Nonsense_Mutation_p.E126* NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN hypothetical protein LOC154313 isoform 1 126 central_nervous_system(1) 1 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) TGCTAAAGAAGAATTGGAAAG 0.438 18 52 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90390407 90390407 + Missense_Mutation SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr6:90390407G>A uc003pnn.1 - 74 12282 c.12166C>T c.(12166-12168)CGC>TGC p.R4056C NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 4056 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTTGGCAAGCGACGCAGAAGC 0.572 8 30 --- --- --- --- PASS GRIK2 2898 broad.mit.edu 37 6 101847225 101847225 + Silent SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr6:101847225G>A uc003pqp.3 + 1 321 c.72G>A c.(70-72)CTG>CTA p.L24L GRIK2_uc003pqn.2_Silent_p.L24L|GRIK2_uc003pqo.3_Silent_p.L24L|GRIK2_uc010kcw.2_Silent_p.L24L NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 24 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TCTGTTTACTGTGGATTGGAT 0.478 22 78 --- --- --- --- PASS THEMIS 387357 broad.mit.edu 37 6 128150678 128150678 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr6:128150678C>T uc003qbi.2 - 4 971 c.652G>A c.(652-654)GAC>AAC p.D218N THEMIS_uc010kfa.2_Missense_Mutation_p.D121N|THEMIS_uc011ebt.1_Missense_Mutation_p.D218N|THEMIS_uc010kfb.2_Missense_Mutation_p.D183N NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 218 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 CCATAAAAGTCTTTAGGAAAT 0.358 18 77 --- --- --- --- PASS PHACTR2 9749 broad.mit.edu 37 6 144086522 144086522 + Silent SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr6:144086522G>T uc003qjq.3 + 6 916 c.786G>T c.(784-786)GGG>GGT p.G262G PHACTR2_uc010khh.2_Silent_p.G182G|PHACTR2_uc010khi.2_Silent_p.G273G|PHACTR2_uc003qjr.3_Silent_p.G193G NM_014721 NP_055536 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 isoform 3 262 actin binding|protein phosphatase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) GGACAGTGGGGACCACCAAGG 0.507 16 56 --- --- --- --- PASS STXBP5 134957 broad.mit.edu 37 6 147637480 147637480 + Missense_Mutation SNP A T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr6:147637480A>T uc003qlz.2 + 16 1900 c.1739A>T c.(1738-1740)CAG>CTG p.Q580L STXBP5_uc010khz.1_Missense_Mutation_p.Q580L|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.Q251L NM_001127715 NP_001121187 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) isoform b 580 WD 9. 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) ATCCCTCCTCAGTCTCATCCA 0.448 12 42 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152777154 152777154 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr6:152777154C>T uc010kiw.2 - 23 3196 c.2594G>A c.(2593-2595)TGT>TAT p.C865Y SYNE1_uc003qot.3_Missense_Mutation_p.C872Y|SYNE1_uc003qou.3_Missense_Mutation_p.C865Y|SYNE1_uc010kjb.1_Missense_Mutation_p.C848Y|SYNE1_uc003qow.2_Missense_Mutation_p.C160Y|SYNE1_uc003qox.1_Missense_Mutation_p.C381Y|SYNE1_uc003qoz.2_Missense_Mutation_p.C297Y|SYNE1_uc003qoy.2_Missense_Mutation_p.C432Y NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 865 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) GGTTTTCTTACAGTTTTCTTG 0.373 HNSCC(10;0.0054) 27 65 --- --- --- --- PASS PNLDC1 154197 broad.mit.edu 37 6 160237602 160237602 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr6:160237602C>T uc003qsx.1 + 14 1226 c.1055C>T c.(1054-1056)GCG>GTG p.A352V PNLDC1_uc003qsy.1_Missense_Mutation_p.A363V NM_173516 NP_775787 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain 352 Cytoplasmic (Potential). integral to membrane|nucleus nucleic acid binding 0 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CACGAAGCCGCGTATGATGCC 0.408 19 71 --- --- --- --- PASS GET4 51608 broad.mit.edu 37 7 934986 934986 + Missense_Mutation SNP G C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr7:934986G>C uc003sjl.1 + 9 1003 c.911G>C c.(910-912)AGC>ACC p.S304T GET4_uc003sjj.1_RNA NM_015949 NP_057033 Q7L5D6 GET4_HUMAN hypothetical protein LOC51608 304 tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex protein binding 0 CTTCTGACCAGCCTCATGGGC 0.642 23 58 --- --- --- --- PASS INTS1 26173 broad.mit.edu 37 7 1516229 1516229 + Missense_Mutation SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr7:1516229C>A uc003skn.2 - 37 5229 c.5128G>T c.(5128-5130)GGG>TGG p.G1710W INTS1_uc003skm.1_5'Flank NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 1710 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) TGGTCCCGCCCCTGCCAGATG 0.687 20 39 --- --- --- --- PASS USP42 84132 broad.mit.edu 37 7 6189570 6189570 + Silent SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr7:6189570G>A uc011jwo.1 + 13 1866 c.1743G>A c.(1741-1743)CCG>CCA p.P581P USP42_uc010kth.1_Silent_p.P514P|USP42_uc011jwp.1_Silent_p.P581P|USP42_uc011jwq.1_Silent_p.P388P|USP42_uc011jwr.1_Silent_p.P426P NM_032172 NP_115548 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 581 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(2)|ovary(1)|pancreas(1)|breast(1) 5 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) TAACAAAACCGATCCCCCGCA 0.527 3 42 --- --- --- --- PASS MACC1 346389 broad.mit.edu 37 7 20197949 20197949 + Nonsense_Mutation SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr7:20197949C>A uc003sus.3 - 5 2344 c.2035G>T c.(2035-2037)GAA>TAA p.E679* MACC1_uc010kug.2_Nonsense_Mutation_p.E679* NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN putative binding protein 7a5 679 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity ovary(2)|skin(1) 3 TCAAAATCTTCCAGGGACAGA 0.343 11 71 --- --- --- --- PASS FAM188B 84182 broad.mit.edu 37 7 30921895 30921895 + Missense_Mutation SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr7:30921895G>T uc003tbt.2 + 16 2148 c.2071G>T c.(2071-2073)GAC>TAC p.D691Y FAM188B_uc010kwe.2_Missense_Mutation_p.D662Y|AQP1_uc011kac.1_Missense_Mutation_p.D37Y|FAM188B_uc003tbu.2_Missense_Mutation_p.D211Y NM_032222 NP_115598 Q4G0A6 F188B_HUMAN hypothetical protein LOC84182 691 0 GCTCCTGCGTGACTGGAGGAC 0.612 17 44 --- --- --- --- PASS CCDC129 223075 broad.mit.edu 37 7 31611726 31611726 + Nonsense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr7:31611726C>T uc003tcj.1 + 6 1312 c.319C>T c.(319-321)CAG>TAG p.Q107* CCDC129_uc011kad.1_Nonsense_Mutation_p.Q117*|CCDC129_uc003tci.1_Nonsense_Mutation_p.Q106*|CCDC129_uc011kae.1_Nonsense_Mutation_p.Q133*|CCDC129_uc003tck.1_Nonsense_Mutation_p.Q15* NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 107 0 ATCTTTGCATCAGTTTTCAGA 0.403 4 25 --- --- --- --- PASS ZP3 7784 broad.mit.edu 37 7 76026960 76026960 + Translation_Start_Site SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr7:76026960G>A uc003ufc.3 + 1 120 c.-220G>A c.(-222--218)CGGTG>CGATG SRCRB4D_uc003ufb.2_Missense_Mutation_p.T248I NM_007155 NP_009086 P21754 ZP3_HUMAN zona pellucida glycoprotein 3 isoform 2 binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding 0 GATGTGTCCGGTGCCATAGCC 0.701 8 12 --- --- --- --- PASS LMTK2 22853 broad.mit.edu 37 7 97822522 97822522 + Silent SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr7:97822522G>T uc003upd.1 + 11 3038 c.2745G>T c.(2743-2745)GGG>GGT p.G915G NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 915 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1) 16 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) TGAGTGTAGGGAGTAGTCTCC 0.532 15 91 --- --- --- --- PASS PTCD1 26024 broad.mit.edu 37 7 99023070 99023070 + Missense_Mutation SNP C A A rs141837479 TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr7:99023070C>A uc003uqh.2 - 6 1216 c.1085G>T c.(1084-1086)CGG>CTG p.R362L PTCD1_uc011kiw.1_Missense_Mutation_p.R411L NM_015545 NP_056360 O75127 PTCD1_HUMAN pentatricopeptide repeat domain 1 362 ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) CCTCCTTGGCCGCTGCCTGCT 0.647 29 75 --- --- --- --- PASS ZNF394 84124 broad.mit.edu 37 7 99091835 99091835 + Missense_Mutation SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr7:99091835C>A uc003uqs.2 - 3 1164 c.1003G>T c.(1003-1005)GAC>TAC p.D335Y ZNF394_uc003uqt.2_Missense_Mutation_p.D128Y NM_032164 NP_115540 Q53GI3 ZN394_HUMAN zinc finger protein 394 335 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TCTCCACTGTCAGACTTGTGA 0.493 39 97 --- --- --- --- PASS NAA38 51691 broad.mit.edu 37 7 117825716 117825716 + Missense_Mutation SNP G C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr7:117825716G>C uc003vjg.2 + 2 232 c.40G>C c.(40-42)GCC>CCC p.A14P NM_016200 NP_057284 O95777 NAA38_HUMAN U6 snRNA-associated Sm-like protein LSm8 14 nuclear mRNA splicing, via spliceosome nucleus|ribonucleoprotein complex protein binding|U6 snRNA binding 0 AGGAACTGTTGCCGTTATTAC 0.343 8 118 --- --- --- --- PASS CADPS2 93664 broad.mit.edu 37 7 122111574 122111574 + Missense_Mutation SNP A G G TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr7:122111574A>G uc010lkp.2 - 13 2204 c.2041T>C c.(2041-2043)TGT>CGT p.C681R CADPS2_uc011knx.1_Missense_Mutation_p.C52R|CADPS2_uc003vkg.3_Missense_Mutation_p.C378R|CADPS2_uc010lkq.2_Missense_Mutation_p.C678R NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 681 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 TAACGGGCACAGTACTCATCT 0.418 2 18 --- --- --- --- PASS OPN1SW 611 broad.mit.edu 37 7 128413738 128413738 + Missense_Mutation SNP A C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr7:128413738A>C uc003vnt.3 - 4 892 c.892T>G c.(892-894)TAC>GAC p.Y298D NM_001708 NP_001699 P03999 OPSB_HUMAN opsin 1 (cone pigments), short-wave-sensitive 298 Helical; Name=7; (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity 0 ATGGGATTGTAGATGCAAGCA 0.458 11 41 --- --- --- --- PASS WDR91 29062 broad.mit.edu 37 7 134881005 134881005 + Silent SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr7:134881005G>T uc003vsp.2 - 8 1197 c.1135C>A c.(1135-1137)CGG>AGG p.R379R WDR91_uc010lmq.2_5'UTR|WDR91_uc010lmr.2_RNA NM_014149 NP_054868 A4D1P6 WDR91_HUMAN WD repeat domain 91 379 breast(2)|ovary(1)|skin(1) 4 GAGGATGCCCGAGTCAGTGGC 0.622 3 40 --- --- --- --- PASS MGAM 8972 broad.mit.edu 37 7 141727446 141727446 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr7:141727446C>T uc003vwy.2 + 10 1186 c.1132C>T c.(1132-1134)CTT>TTT p.L378F NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 378 Lumenal (Potential).|Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTACTGGGCGCTTGGATTTCA 0.443 10 65 --- --- --- --- PASS TMEM176B 28959 broad.mit.edu 37 7 150493564 150493564 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr7:150493564C>T uc003wht.3 - 2 260 c.94G>A c.(94-96)GCT>ACT p.A32T TMEM176B_uc003whu.3_Missense_Mutation_p.A32T|TMEM176B_uc003whv.3_Missense_Mutation_p.A32T|TMEM176B_uc003whw.3_Missense_Mutation_p.A32T NM_001101313 NP_001094783 Q3YBM2 T176B_HUMAN transmembrane protein 176B isoform a 32 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGTGTCAAAGCTGACTCCTGG 0.527 26 54 --- --- --- --- PASS UNC5D 137970 broad.mit.edu 37 8 35606179 35606179 + Missense_Mutation SNP A T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr8:35606179A>T uc003xjr.1 + 12 2229 c.1901A>T c.(1900-1902)CAT>CTT p.H634L UNC5D_uc003xjs.1_Missense_Mutation_p.H629L|UNC5D_uc003xju.1_Missense_Mutation_p.H210L NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 634 ZU5.|Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TGGAATATCCATTTAAAGAAG 0.468 13 146 --- --- --- --- PASS ZNF703 80139 broad.mit.edu 37 8 37556171 37556171 + Silent SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr8:37556171C>A uc003xjy.1 + 2 1949 c.1752C>A c.(1750-1752)GCC>GCA p.A584A NM_025069 NP_079345 Q9H7S9 ZN703_HUMAN zinc finger protein 703 584 adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09) TAGCTTCAGCCTCGGCGCTGG 0.507 5 52 --- --- --- --- PASS MYST3 7994 broad.mit.edu 37 8 41834699 41834699 + Missense_Mutation SNP T C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr8:41834699T>C uc010lxb.2 - 8 1734 c.1190A>G c.(1189-1191)AAT>AGT p.N397S MYST3_uc010lxc.2_Missense_Mutation_p.N397S|MYST3_uc003xon.3_Missense_Mutation_p.N397S|MYST3_uc010lxd.2_Missense_Mutation_p.N397S NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 397 Interaction with RUNX1-1. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) CAAGGAGACATTGCTATCTCT 0.453 8 188 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52366245 52366245 + Silent SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr8:52366245G>T uc003xqu.3 - 10 1184 c.1083C>A c.(1081-1083)ATC>ATA p.I361I NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 361 Ig-like C2-type 2. 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) TGGTCCAAGTGATAAGAGGGT 0.507 17 53 --- --- --- --- PASS RB1CC1 9821 broad.mit.edu 37 8 53573547 53573547 + Silent SNP T C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr8:53573547T>C uc003xre.3 - 11 2124 c.1566A>G c.(1564-1566)AAA>AAG p.K522K RB1CC1_uc003xrf.3_Silent_p.K522K NM_014781 NP_055596 Q8TDY2 RBCC1_HUMAN Rb1-inducible coiled coil protein 1 isoform 1 522 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 11 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) TCTTTCCATCTTTGACTAAAG 0.289 17 84 --- --- --- --- PASS LYPLA1 10434 broad.mit.edu 37 8 54967634 54967634 + Missense_Mutation SNP C G G TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr8:54967634C>G uc003xry.2 - 6 540 c.346G>C c.(346-348)GGA>CGA p.G116R LYPLA1_uc011ldx.1_Missense_Mutation_p.G111R|LYPLA1_uc003xrz.2_Missense_Mutation_p.G95R NM_006330 NP_006321 O75608 LYPA1_HUMAN lysophospholipase 1 116 fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity cytosol lysophospholipase activity|palmitoyl-(protein) hydrolase activity central_nervous_system(1) 1 Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689) GAAAACCCTCCCAAAATAATT 0.328 4 72 --- --- --- --- PASS CSPP1 79848 broad.mit.edu 37 8 68087623 68087623 + Missense_Mutation SNP G C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr8:68087623G>C uc003xxi.2 + 26 3182 c.3151G>C c.(3151-3153)GAG>CAG p.E1051Q ARFGEF1_uc003xxl.1_3'UTR|CSPP1_uc003xxj.2_Missense_Mutation_p.E1016Q|CSPP1_uc003xxk.2_Missense_Mutation_p.E671Q|CSPP1_uc010lyw.2_Missense_Mutation_p.E111Q NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 1051 centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) CCTGCTAAGAGAGCAGCAGAA 0.418 23 79 --- --- --- --- PASS KCNB2 9312 broad.mit.edu 37 8 73480396 73480396 + Missense_Mutation SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr8:73480396C>A uc003xzb.2 + 2 1015 c.427C>A c.(427-429)CAA>AAA p.Q143K NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 143 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) CAGATATCATCAAAAAAAAGA 0.443 4 130 --- --- --- --- PASS RIMS2 9699 broad.mit.edu 37 8 104898313 104898313 + Missense_Mutation SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr8:104898313C>A uc003yls.2 + 2 1061 c.820C>A c.(820-822)CCA>ACA p.P274T RIMS2_uc003ylp.2_Missense_Mutation_p.P496T|RIMS2_uc003ylw.2_Missense_Mutation_p.P304T|RIMS2_uc003ylq.2_Missense_Mutation_p.P304T|RIMS2_uc003ylr.2_Missense_Mutation_p.P304T NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 527 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) ACCTCCACCACCAAAGCCTCA 0.428 HNSCC(12;0.0054) 13 51 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113314135 113314135 + Nonsense_Mutation SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr8:113314135G>T uc003ynu.2 - 53 8486 c.8327C>A c.(8326-8328)TCA>TAA p.S2776* CSMD3_uc003yns.2_Nonsense_Mutation_p.S1978*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.S2736*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.S2607* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2776 Extracellular (Potential).|Sushi 17. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TGAGCCATATGAAGTTTGAGT 0.378 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 30 69 --- --- --- --- PASS SLC30A8 169026 broad.mit.edu 37 8 118184797 118184797 + Silent SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr8:118184797G>A uc003yoh.2 + 8 1217 c.987G>A c.(985-987)GTG>GTA p.V329V SLC30A8_uc010mcz.2_Silent_p.V280V|SLC30A8_uc011lia.1_Silent_p.V280V|SLC30A8_uc003yog.2_Silent_p.V280V NM_173851 NP_776250 Q8IWU4 ZNT8_HUMAN solute carrier family 30 member 8 329 Cytoplasmic (Potential). insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity ovary(2)|skin(2) 4 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) ACAGCCAAGTGGTTCGGAGAG 0.507 21 107 --- --- --- --- PASS DMRTA1 63951 broad.mit.edu 37 9 22451172 22451172 + Silent SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr9:22451172G>T uc003zpp.1 + 2 1002 c.777G>T c.(775-777)GGG>GGT p.G259G NM_022160 NP_071443 Q5VZB9 DMRTA_HUMAN DMRT-like family A1 259 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|skin(1) 2 all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563) GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517) GTGTCATTGGGAAACAAAGTA 0.438 21 52 --- --- --- --- PASS COL15A1 1306 broad.mit.edu 37 9 101801014 101801014 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr9:101801014C>T uc004azb.1 + 22 2680 c.2474C>T c.(2473-2475)CCG>CTG p.P825L NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 825 Triple-helical region 4 (COL4). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) GTGGGGCCTCCGGTTGGTATC 0.468 27 114 --- --- --- --- PASS ASTN2 23245 broad.mit.edu 37 9 119858349 119858349 + Missense_Mutation SNP T A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr9:119858349T>A uc004bjs.1 - 5 1351 c.1250A>T c.(1249-1251)CAG>CTG p.Q417L ASTN2_uc004bjr.1_Missense_Mutation_p.Q417L|ASTN2_uc004bjt.1_Missense_Mutation_p.Q366L NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 417 Cytoplasmic (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 ACTGCGGTACTGCTCCGTGTA 0.512 9 47 --- --- --- --- PASS MASTL 84930 broad.mit.edu 37 10 27459686 27459686 + Missense_Mutation SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr10:27459686G>A uc001itm.2 + 8 2437 c.1798G>A c.(1798-1800)GAA>AAA p.E600K MASTL_uc001itl.2_Missense_Mutation_p.E600K|MASTL_uc009xkw.1_Missense_Mutation_p.E600K|MASTL_uc009xkx.1_RNA NM_032844 NP_116233 Q96GX5 GWL_HUMAN microtubule associated serine/threonine 600 Protein kinase. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 ATCCTCTTTTGAAGAATCAAA 0.373 14 29 --- --- --- --- PASS BMS1 9790 broad.mit.edu 37 10 43285800 43285800 + Silent SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr10:43285800G>T uc001jaj.2 + 5 835 c.477G>T c.(475-477)GGG>GGT p.G159G NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 159 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 CCAGCTTTGGGTTTGAAATGG 0.358 30 108 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55582958 55582958 + Missense_Mutation SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr10:55582958C>A uc001jju.1 - 33 4923 c.4528G>T c.(4528-4530)GCA>TCA p.A1510S PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.A1507S|PCDH15_uc010qhw.1_Missense_Mutation_p.A1470S|PCDH15_uc010qhx.1_Missense_Mutation_p.A1441S|PCDH15_uc010qhy.1_Missense_Mutation_p.A1517S|PCDH15_uc010qhz.1_Missense_Mutation_p.A1512S|PCDH15_uc010qia.1_Missense_Mutation_p.A1490S|PCDH15_uc010qib.1_Missense_Mutation_p.A1487S NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1510 Cytoplasmic (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) AATTTTCTTGCAGACTTCAGT 0.373 HNSCC(58;0.16) 79 34 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55663006 55663006 + Silent SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr10:55663006C>A uc001jju.1 - 26 3893 c.3498G>T c.(3496-3498)GTG>GTT p.V1166V PCDH15_uc010qhq.1_Silent_p.V1171V|PCDH15_uc010qhr.1_Silent_p.V1166V|PCDH15_uc010qhs.1_Silent_p.V1178V|PCDH15_uc010qht.1_Silent_p.V1173V|PCDH15_uc010qhu.1_Silent_p.V1166V|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.V1166V|PCDH15_uc010qhw.1_Silent_p.V1129V|PCDH15_uc010qhx.1_Silent_p.V1095V|PCDH15_uc010qhy.1_Silent_p.V1171V|PCDH15_uc010qhz.1_Silent_p.V1166V|PCDH15_uc010qia.1_Silent_p.V1144V|PCDH15_uc010qib.1_Silent_p.V1144V NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1166 Cadherin 11.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) CGCATACCTTCACTCTGAGTA 0.363 HNSCC(58;0.16) 35 30 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55782681 55782681 + Missense_Mutation SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr10:55782681G>T uc001jju.1 - 19 2892 c.2497C>A c.(2497-2499)CCA>ACA p.P833T PCDH15_uc010qhq.1_Missense_Mutation_p.P838T|PCDH15_uc010qhr.1_Missense_Mutation_p.P833T|PCDH15_uc010qhs.1_Missense_Mutation_p.P845T|PCDH15_uc010qht.1_Missense_Mutation_p.P840T|PCDH15_uc010qhu.1_Missense_Mutation_p.P833T|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P833T|PCDH15_uc010qhw.1_Missense_Mutation_p.P796T|PCDH15_uc010qhx.1_Missense_Mutation_p.P762T|PCDH15_uc010qhy.1_Missense_Mutation_p.P838T|PCDH15_uc010qhz.1_Missense_Mutation_p.P833T|PCDH15_uc010qia.1_Missense_Mutation_p.P811T|PCDH15_uc010qib.1_Missense_Mutation_p.P811T|PCDH15_uc001jjw.2_Missense_Mutation_p.P833T NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 833 Extracellular (Potential).|Cadherin 8. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) GTCCCAGCTGGCAAATTCTCT 0.358 HNSCC(58;0.16) 5 153 --- --- --- --- PASS DDIT4 54541 broad.mit.edu 37 10 74034084 74034084 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr10:74034084C>T uc001jsx.1 + 2 312 c.110C>T c.(109-111)GCG>GTG p.A37V NM_019058 NP_061931 Q9NX09 DDIT4_HUMAN RTP801 37 apoptosis pancreas(1) 1 TGGGGGTCGGCGACCCGGGAG 0.687 31 24 --- --- --- --- PASS MYST4 23522 broad.mit.edu 37 10 76790711 76790711 + Silent SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr10:76790711C>T uc001jwn.1 + 18 6622 c.6129C>T c.(6127-6129)CAC>CAT p.H2043H MYST4_uc001jwo.1_Silent_p.H1751H|MYST4_uc001jwp.1_Silent_p.H1860H NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 2043 Interaction with RUNX1 and RUNX2.|Met-rich. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) CCCCACCCCACGGTAACATGA 0.532 T CREBBP AML 15 39 --- --- --- --- PASS LIPJ 142910 broad.mit.edu 37 10 90362337 90362337 + Missense_Mutation SNP G C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr10:90362337G>C uc001kff.2 + 9 1042 c.728G>C c.(727-729)CGT>CCT p.R243P NM_001010939 NP_001010939 Q5W064 LIPJ_HUMAN lipase, family member J 243 lipid catabolic process hydrolase activity ovary(1) 1 all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222) Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05) CCTCAGAGTCGTTTGGATGTG 0.274 37 64 --- --- --- --- PASS PIK3AP1 118788 broad.mit.edu 37 10 98411397 98411397 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr10:98411397C>T uc001kmq.2 - 5 852 c.724G>A c.(724-726)GGG>AGG p.G242R PIK3AP1_uc001kmp.2_Missense_Mutation_p.G64R NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 242 DBB. cytoplasm|plasma membrane upper_aerodigestive_tract(3)|ovary(1)|skin(1) 5 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) GAAACGTTCCCAGATGAAAGG 0.393 11 21 --- --- --- --- PASS MIR1307 100302174 broad.mit.edu 37 10 105154076 105154076 + RNA SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr10:105154076G>T hsa-mir-1307|MI0006444 - c.83G>T USMG5_uc001kww.1_5'UTR|USMG5_uc001kwx.1_Intron|PDCD11_uc001kwy.1_5'Flank 0 ACGCCACGCCGAGTCGATTGG 0.498 3 63 --- --- --- --- PASS XPNPEP1 7511 broad.mit.edu 37 10 111630550 111630550 + Silent SNP G A A rs143796899 TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr10:111630550G>A uc001kyp.1 - 18 1646 c.1506C>T c.(1504-1506)TGC>TGT p.C502C XPNPEP1_uc009xxt.1_Silent_p.C521C|XPNPEP1_uc001kyq.1_Silent_p.C431C NM_020383 NP_065116 Q9NQW7 XPP1_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 1, 502 bradykinin catabolic process|proteolysis manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity ovary(3)|pancreas(1) 4 Breast(234;0.174) Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721) AACTGATGCCGCAAGGACCCT 0.498 4 174 --- --- --- --- PASS PNLIPRP2 5408 broad.mit.edu 37 10 118396324 118396324 + Missense_Mutation SNP G C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr10:118396324G>C uc001lcq.2 + 12 991 c.968G>C c.(967-969)GGA>GCA p.G323A PNLIPRP2_uc009xyv.1_RNA NM_005396 NP_005387 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 322 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity large_intestine(1) 1 all cancers(201;0.015) CCAGCTGAAGGATGCCCCAAA 0.408 8 4 --- --- --- --- PASS C10orf119 79892 broad.mit.edu 37 10 121596523 121596523 + Missense_Mutation SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr10:121596523G>T uc001ler.2 - 13 1731 c.1433C>A c.(1432-1434)GCC>GAC p.A478D C10orf119_uc001leq.1_Missense_Mutation_p.A303D|C10orf119_uc001les.1_Missense_Mutation_p.A303D NM_024834 NP_079110 Q9BTE3 MCMBP_HUMAN chromosome 10 open reading frame 119 478 cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion nucleus chromatin binding 0 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.0044) GTTGCTCAGGGCTGTCACATT 0.428 4 80 --- --- --- --- PASS PDE3B 5140 broad.mit.edu 37 11 14808182 14808182 + Missense_Mutation SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr11:14808182G>T uc001mln.2 + 3 1582 c.1229G>T c.(1228-1230)TGT>TTT p.C410F PDE3B_uc010rcr.1_Intron NM_000922 NP_000913 Q13370 PDE3B_HUMAN phosphodiesterase 3B 410 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 TTTTACCCCTGTTCTGAAATA 0.378 74 70 --- --- --- --- PASS KIF18A 81930 broad.mit.edu 37 11 28058072 28058072 + Silent SNP A G G TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr11:28058072A>G uc001msc.2 - 14 2270 c.2088T>C c.(2086-2088)CTT>CTC p.L696L NM_031217 NP_112494 Q8NI77 KI18A_HUMAN kinesin family member 18A 696 blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding ovary(2) 2 GTTCTTTGCTAAGAGAATCAT 0.378 26 106 --- --- --- --- PASS NUP160 23279 broad.mit.edu 37 11 47830025 47830025 + Silent SNP T C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr11:47830025T>C uc001ngm.2 - 18 2383 c.2298A>G c.(2296-2298)ACA>ACG p.T766T NUP160_uc009ylw.2_RNA NM_015231 NP_056046 Q12769 NU160_HUMAN nucleoporin 160kDa 766 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 GTAGGGGAGCTGTTCGATGTA 0.418 45 27 --- --- --- --- PASS SLC15A3 51296 broad.mit.edu 37 11 60707042 60707042 + Missense_Mutation SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr11:60707042C>A uc001nqn.2 - 6 1579 c.1345G>T c.(1345-1347)GTC>TTC p.V449F SLC15A3_uc001nqo.2_Missense_Mutation_p.R392S NM_016582 NP_057666 Q8IY34 S15A3_HUMAN solute carrier family 15, member 3 449 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity 0 TTGTACAGGACCTCCCCAATC 0.567 8 40 --- --- --- --- PASS RAB6A 5870 broad.mit.edu 37 11 73389000 73389000 + Silent SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr11:73389000G>A uc001oue.2 - 8 1091 c.570C>T c.(568-570)GAC>GAT p.D190D RAB6A_uc001ouf.2_Silent_p.D190D|RAB6A_uc009yts.2_Silent_p.D86D NM_002869 NP_002860 P20340 RAB6A_HUMAN RAB6A, member RAS oncogene family isoform a 190 minus-end-directed organelle transport along microtubule|peptidyl-cysteine methylation|protein targeting to Golgi|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction cytoplasmic vesicle|cytosol|Golgi membrane|trans-Golgi network GTP binding|GTPase activity|protein domain specific binding 0 CCAGTTTTATGTCAATCACTG 0.408 29 35 --- --- --- --- PASS OMP 4975 broad.mit.edu 37 11 76814207 76814207 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr11:76814207C>T uc010rsk.1 + 1 322 c.322C>T c.(322-324)CGC>TGC p.R108C CAPN5_uc001oxx.2_Intron|CAPN5_uc009yup.2_Intron|CAPN5_uc009yuq.2_Intron|CAPN5_uc001oxy.2_Intron NM_006189 NP_006180 P47874 OMP_HUMAN olfactory marker protein 108 sensory perception of smell|synaptic transmission 0 CATCTTCTGGCGCAAGGAGGA 0.612 9 45 --- --- --- --- PASS FZD4 8322 broad.mit.edu 37 11 86662462 86662462 + Missense_Mutation SNP C G G TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr11:86662462C>G uc001pce.2 - 2 1642 c.1336G>C c.(1336-1338)GTT>CTT p.V446L PRSS23_uc001pcc.1_RNA NM_012193 NP_036325 Q9ULV1 FZD4_HUMAN frizzled 4 precursor 446 Helical; Name=6; (Potential). canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway cell projection|cell surface|cytoplasm cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding large_intestine(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GTTGCAGGAACTGTGTACAGT 0.403 11 145 --- --- --- --- PASS MMP12 4321 broad.mit.edu 37 11 102742661 102742661 + Missense_Mutation SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr11:102742661G>T uc001phk.2 - 3 417 c.372C>A c.(370-372)GAC>GAA p.D124E NM_002426 NP_002417 P39900 MMP12_HUMAN matrix metalloproteinase 12 preproprotein 124 Calcium 1. positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) CACGGTTCATGTCAGGTGTGT 0.388 6 39 --- --- --- --- PASS EXPH5 23086 broad.mit.edu 37 11 108382994 108382994 + Silent SNP T C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr11:108382994T>C uc001pkk.2 - 6 3351 c.3240A>G c.(3238-3240)GAA>GAG p.E1080E EXPH5_uc010rvy.1_Silent_p.E892E|EXPH5_uc010rvz.1_Silent_p.E924E|EXPH5_uc010rwa.1_Silent_p.E1004E NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 1080 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CTTTGGAACATTCATTCGCTG 0.428 22 107 --- --- --- --- PASS CLDN25 644672 broad.mit.edu 37 11 113651059 113651059 + Missense_Mutation SNP T A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr11:113651059T>A uc009yyw.1 + 1 542 c.542T>A c.(541-543)CTA>CAA p.L181Q NM_001101389 NP_001094859 C9JDP6 CLD25_HUMAN claudin 25 181 Helical; (Potential). integral to membrane|tight junction structural molecule activity 0 CTTGGTGGGCTACTCCTCATC 0.557 29 53 --- --- --- --- PASS LEPREL2 10536 broad.mit.edu 37 12 6947151 6947151 + Missense_Mutation SNP A G G TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr12:6947151A>G uc001qra.1 + 15 1893 c.1859A>G c.(1858-1860)CAG>CGG p.Q620R LEPREL2_uc001qqz.1_Missense_Mutation_p.Q427R|LEPREL2_uc001qrb.1_Missense_Mutation_p.Q427R|GNB3_uc001qrc.2_5'Flank|GNB3_uc001qrd.2_5'Flank|GNB3_uc009zfe.2_5'Flank NM_014262 NP_055077 Q8IVL6 P3H3_HUMAN leprecan-like 2 precursor 620 Fe2OG dioxygenase. negative regulation of cell proliferation endoplasmic reticulum 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 3-dioxygenase activity 0 L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) GATGACTTCCAGGGTGGGGAC 0.627 7 13 --- --- --- --- PASS CD163L1 283316 broad.mit.edu 37 12 7593778 7593778 + Silent SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr12:7593778C>T uc001qsy.2 - 2 122 c.96G>A c.(94-96)CTG>CTA p.L32L CD163L1_uc010sge.1_Silent_p.L32L NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 32 extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 AGCAGGAATTCAGGAGCAGGA 0.413 74 114 --- --- --- --- PASS ARHGAP9 64333 broad.mit.edu 37 12 57867924 57867924 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr12:57867924C>T uc001sod.2 - 19 2282 c.2089G>A c.(2089-2091)GAC>AAC p.D697N ARHGAP9_uc001sny.2_Intron|ARHGAP9_uc001snz.2_Missense_Mutation_p.D423N|ARHGAP9_uc001soa.2_Missense_Mutation_p.D296N|ARHGAP9_uc001sob.2_Missense_Mutation_p.D607N|ARHGAP9_uc001soc.2_Missense_Mutation_p.D607N|ARHGAP9_uc001soe.1_Missense_Mutation_p.D686N NM_032496 NP_115885 Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 isoform 1 626 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding lung(1) 1 GBM - Glioblastoma multiforme(3;3.37e-34) ACATGAATGTCATCCCACTCA 0.552 12 47 --- --- --- --- PASS MDM2 4193 broad.mit.edu 37 12 69233474 69233474 + Missense_Mutation SNP T A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr12:69233474T>A uc001sui.2 + 11 1626 c.1339T>A c.(1339-1341)TGT>AGT p.C447S MDM2_uc009zri.2_Missense_Mutation_p.C402S|MDM2_uc009zqx.2_Missense_Mutation_p.C392S|MDM2_uc009zqw.2_3'UTR|MDM2_uc001suk.2_Intron|MDM2_uc001sun.3_Missense_Mutation_p.C266S|MDM2_uc009zqz.2_Missense_Mutation_p.C394S|MDM2_uc009zra.2_Missense_Mutation_p.C245S|MDM2_uc001sum.1_Missense_Mutation_p.C75S|MDM2_uc009zrd.2_Missense_Mutation_p.C131S|MDM2_uc009zrc.2_Missense_Mutation_p.C131S|MDM2_uc009zre.2_Missense_Mutation_p.C188S|MDM2_uc009zrf.2_Missense_Mutation_p.C131S|MDM2_uc001suo.2_Missense_Mutation_p.C241S|MDM2_uc009zrg.2_Missense_Mutation_p.C163S|MDM2_uc009zrh.2_Missense_Mutation_p.C215S NM_002392 NP_002383 Q00987 MDM2_HUMAN mouse double minute 2 homolog isoform MDM2 441 Necessary for interaction with USP2.|RING-type. C->G: Fails to interact with MDM4. cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding lung(2)|central_nervous_system(1) 3 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) TTGTGTGATTTGTCAAGGTCG 0.413 A sarcoma|glioma|colorectal|other 25 178 --- --- --- --- PASS PLXNC1 10154 broad.mit.edu 37 12 94690982 94690982 + Missense_Mutation SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr12:94690982G>A uc001tdc.2 + 25 4201 c.3952G>A c.(3952-3954)GAC>AAC p.D1318N PLXNC1_uc010sut.1_Missense_Mutation_p.D365N|PLXNC1_uc009zsv.2_Missense_Mutation_p.D57N NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 1318 Cytoplasmic (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 GTACTCGGATGACCACTGCCA 0.493 21 143 --- --- --- --- PASS GTF2H3 2967 broad.mit.edu 37 12 124130034 124130034 + Missense_Mutation SNP G C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr12:124130034G>C uc001ufo.1 + 3 152 c.126G>C c.(124-126)ATG>ATC p.M42I GTF2H3_uc010tau.1_Missense_Mutation_p.M1I NM_001516 NP_001507 Q13889 TF2H3_HUMAN general transcription factor IIH, polypeptide 3, 42 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction core TFIIH complex|holo TFIIH complex damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362) ATGCCGTGATGGTGCTGGGAA 0.363 NER 39 18 --- --- --- --- PASS EP400 57634 broad.mit.edu 37 12 132551372 132551372 + Silent SNP A C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr12:132551372A>C uc001ujn.2 + 48 8642 c.8607A>C c.(8605-8607)GCA>GCC p.A2869A EP400_uc001ujl.2_Silent_p.A2868A|EP400_uc001ujm.2_Silent_p.A2788A|EP400_uc001ujp.2_Silent_p.A79A NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2905 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) AGACCCAGGCACCCCAGCCAG 0.622 9 45 --- --- --- --- PASS TUBA3C 7278 broad.mit.edu 37 13 19751624 19751624 + Missense_Mutation SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr13:19751624G>T uc009zzj.2 - 4 548 c.499C>A c.(499-501)CTA>ATA p.L167I NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 167 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GCAAATTCTAGCTTGGACTTC 0.577 23 115 --- --- --- --- PASS KCNRG 283518 broad.mit.edu 37 13 50589841 50589841 + Missense_Mutation SNP T C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr13:50589841T>C uc001vdu.2 + 1 452 c.212T>C c.(211-213)TTA>TCA p.L71S DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_Missense_Mutation_p.L71S|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR NM_173605 NP_775876 Q8N5I3 KCNRG_HUMAN potassium channel regulator isoform 1 71 BTB. voltage-gated potassium channel complex identical protein binding|voltage-gated potassium channel activity 0 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204) CACCAGCTTTTATTACCCACT 0.383 15 109 --- --- --- --- PASS FBXL3 26224 broad.mit.edu 37 13 77581289 77581289 + Silent SNP G C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr13:77581289G>C uc001vkd.2 - 5 1649 c.1278C>G c.(1276-1278)CCC>CCG p.P426P NM_012158 NP_036290 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 426 regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity 0 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) TTTACCAAGTGGGCATCATGT 0.358 14 66 --- --- --- --- PASS MYCBP2 23077 broad.mit.edu 37 13 77714292 77714292 + Missense_Mutation SNP T G G TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr13:77714292T>G uc001vkf.2 - 52 7385 c.7294A>C c.(7294-7296)AAA>CAA p.K2432Q MYCBP2_uc010aev.2_Missense_Mutation_p.K1836Q NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 2432 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GCCACAAATTTTCGAACCTGA 0.423 11 21 --- --- --- --- PASS OR4N5 390437 broad.mit.edu 37 14 20612106 20612106 + Missense_Mutation SNP C G G TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr14:20612106C>G uc010tla.1 + 1 212 c.212C>G c.(211-213)GCA>GGA p.A71G NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, 71 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TTACTGGATGCATCCTACTCC 0.473 43 223 --- --- --- --- PASS SFTA3 253970 broad.mit.edu 37 14 36946257 36946257 + Silent SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr14:36946257G>A uc001wtr.2 - 3 812 c.180C>T c.(178-180)TGC>TGT p.C60C SFTA3_uc001wtq.2_RNA|SFTA3_uc001wts.2_RNA NM_001101341 NP_001094811 P0C7M3 SFTA3_HUMAN surfactant associated 3 60 0 GACTTGGCACGCAAACAGCGA 0.517 22 122 --- --- --- --- PASS TRIM9 114088 broad.mit.edu 37 14 51446263 51446263 + Nonsense_Mutation SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr14:51446263C>A uc001wyx.3 - 9 2677 c.1912G>T c.(1912-1914)GAG>TAG p.E638* TRIM9_uc001wyy.2_Nonsense_Mutation_p.E719* NM_015163 NP_055978 Q9C026 TRIM9_HUMAN tripartite motif protein 9 isoform 1 638 B30.2/SPRY. proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding skin(2)|lung(1) 3 all_epithelial(31;0.00418)|Breast(41;0.148) ATCCCTCCCTCAGTTCTGTAG 0.393 114 242 --- --- --- --- PASS ZFYVE26 23503 broad.mit.edu 37 14 68248188 68248188 + Silent SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr14:68248188C>T uc001xka.2 - 22 4570 c.4431G>A c.(4429-4431)CTG>CTA p.L1477L ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.L1477L NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1477 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) ACTGTAGGGCCAGCCGACTTC 0.517 11 140 --- --- --- --- PASS ZFYVE1 53349 broad.mit.edu 37 14 73444717 73444717 + Missense_Mutation SNP T C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr14:73444717T>C uc001xnm.2 - 8 2193 c.1553A>G c.(1552-1554)TAT>TGT p.Y518C ZFYVE1_uc001xnl.2_Missense_Mutation_p.Y103C|ZFYVE1_uc010arj.2_Intron NM_021260 NP_067083 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 isoform 1 518 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding skin(1) 1 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) CCGACTACGATAGACCACGCC 0.493 23 83 --- --- --- --- PASS KCNK10 54207 broad.mit.edu 37 14 88654343 88654343 + Silent SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr14:88654343G>A uc001xwo.2 - 6 1421 c.964C>T c.(964-966)CTA>TTA p.L322L KCNK10_uc001xwm.2_Silent_p.L327L|KCNK10_uc001xwn.2_Silent_p.L327L NM_021161 NP_066984 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 322 Cytoplasmic (Potential). signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(2)|pancreas(1) 5 AGAACCCGTAGCCAATCTCCG 0.478 28 105 --- --- --- --- PASS MIR329-1 574408 broad.mit.edu 37 14 101493134 101493134 + RNA SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr14:101493134G>T hsa-mir-329-1|MI0001725 + c.13G>T MIR329-2_hsa-mir-329-2|MI0001726_5'Flank|MIR494_hsa-mir-494|MI0003134_5'Flank|uc010txm.1_5'Flank 0 TACCTGAAGAGAGGTTTTCTG 0.443 29 119 --- --- --- --- PASS HSP90AA1 3320 broad.mit.edu 37 14 102552662 102552662 + Missense_Mutation SNP C G G TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr14:102552662C>G uc001yku.3 - 2 244 c.54G>C c.(52-54)GAG>GAC p.E18D HSP90AA1_uc001ykv.3_Missense_Mutation_p.E140D|HSP90AA1_uc001ykw.1_5'UTR|HSP90AA1_uc001ykx.1_Missense_Mutation_p.E7D NM_005348 NP_005339 P07900 HS90A_HUMAN heat shock 90kDa protein 1, alpha isoform 2 18 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1) 7 Rifabutin(DB00615) AGGCGAACGTCTCAACCTCCT 0.478 12 87 --- --- --- --- PASS OCA2 4948 broad.mit.edu 37 15 28000605 28000605 + Missense_Mutation SNP T A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr15:28000605T>A uc001zbh.3 - 24 2556 c.2446A>T c.(2446-2448)ATG>TTG p.M816L OCA2_uc010ayv.2_Missense_Mutation_p.M792L NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 816 Extracellular (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) ACAACCATCATTGGGAAGCCC 0.438 Oculocutaneous_Albinism 12 52 --- --- --- --- PASS FBN1 2200 broad.mit.edu 37 15 48748893 48748893 + Missense_Mutation SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr15:48748893C>A uc001zwx.1 - 44 5691 c.5363G>T c.(5362-5364)AGC>ATC p.S1788I FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 1788 EGF-like 29; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ACATCGGAAGCTGCCAACCAT 0.433 30 123 --- --- --- --- PASS WDR72 256764 broad.mit.edu 37 15 53907987 53907987 + Nonsense_Mutation SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr15:53907987C>A uc002acj.2 - 15 2458 c.2416G>T c.(2416-2418)GGA>TGA p.G806* WDR72_uc010bfi.1_Nonsense_Mutation_p.G806* NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 806 lung(1)|skin(1) 2 all cancers(107;0.0511) TTATCCACTCCCCATGGCAAA 0.358 114 234 --- --- --- --- PASS LRRC49 54839 broad.mit.edu 37 15 71341747 71341747 + Splice_Site SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr15:71341747G>A uc002asw.2 + 16 2105 c.1858_splice c.e16-1 p.E620_splice LRRC49_uc002asu.2_Splice_Site_p.E610_splice|LRRC49_uc002asx.2_Splice_Site_p.E576_splice|LRRC49_uc010ukf.1_Splice_Site_p.E625_splice|LRRC49_uc002asy.2_Splice_Site_p.E326_splice|LRRC49_uc002asz.2_Splice_Site_p.E592_splice NM_017691 NP_060161 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 cytoplasm|microtubule ovary(1) 1 TTTTTTAACAGGAAATAAAGG 0.294 9 35 --- --- --- --- PASS KIAA1024 23251 broad.mit.edu 37 15 79750711 79750711 + Missense_Mutation SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr15:79750711G>T uc002bew.1 + 2 2297 c.2222G>T c.(2221-2223)CGT>CTT p.R741L KIAA1024_uc010unk.1_Missense_Mutation_p.R741L NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 741 integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 TATACCAACCGTGTGGGCCTC 0.463 3 79 --- --- --- --- PASS NARFL 64428 broad.mit.edu 37 16 780537 780537 + Silent SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr16:780537C>T uc002cjr.2 - 11 1323 c.1311G>A c.(1309-1311)GGG>GGA p.G437G NARFL_uc002cjp.2_Silent_p.G335G|NARFL_uc002cjq.2_Silent_p.G335G|NARFL_uc002cjs.2_Silent_p.G219G NM_022493 NP_071938 Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 437 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding 0 Hepatocellular(780;0.0218) GCTCCTGAACCCCAGGCGCGT 0.667 12 64 --- --- --- --- PASS GRIN2A 2903 broad.mit.edu 37 16 9934909 9934909 + Missense_Mutation SNP T A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr16:9934909T>A uc002czo.3 - 6 1929 c.1381A>T c.(1381-1383)ATT>TTT p.I461F GRIN2A_uc010uym.1_Missense_Mutation_p.I461F|GRIN2A_uc010uyn.1_Missense_Mutation_p.I304F|GRIN2A_uc002czr.3_Missense_Mutation_p.I461F NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 461 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AGAATATCAATGCAGAACCCC 0.333 34 147 --- --- --- --- PASS RSL1D1 26156 broad.mit.edu 37 16 11945310 11945310 + Silent SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr16:11945310C>A uc002dbp.1 - 1 133 c.60G>T c.(58-60)TCG>TCT p.S20S RSL1D1_uc010buv.1_Silent_p.S20S|RSL1D1_uc010uyw.1_5'UTR|RSL1D1_uc010buw.2_RNA NM_015659 NP_056474 O76021 RL1D1_HUMAN ribosomal L1 domain containing 1 20 regulation of protein localization|translation large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome 0 CCGCTGGAGTCGAGGTGGAGG 0.612 3 62 --- --- --- --- PASS ABCC6 368 broad.mit.edu 37 16 16284196 16284196 + Missense_Mutation SNP C A A rs72653768 TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr16:16284196C>A uc002den.3 - 12 1497 c.1460G>T c.(1459-1461)CGG>CTG p.R487L ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Missense_Mutation_p.R499L NM_001171 NP_001162 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C, member 6 487 ABC transmembrane type-1 1.|Cytoplasmic (By similarity). response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) GAGCCGTGCCCGTGAGTCCTT 0.493 3 55 --- --- --- --- PASS C16orf88 400506 broad.mit.edu 37 16 19718381 19718381 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr16:19718381C>T uc002dgq.2 - 5 1243 c.1228G>A c.(1228-1230)GAC>AAC p.D410N NM_001012991 NP_001013009 Q1ED39 CP088_HUMAN hypothetical protein LOC400506 410 Interaction with ZFP106 (By similarity). nucleolus 0 TGCAGGCTGTCAGCCGCCTTC 0.627 14 50 --- --- --- --- PASS ZNF267 10308 broad.mit.edu 37 16 31926937 31926937 + Missense_Mutation SNP C G G TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr16:31926937C>G uc002ecs.3 + 4 1576 c.1367C>G c.(1366-1368)ACA>AGA p.T456R NM_003414 NP_003405 Q14586 ZN267_HUMAN zinc finger protein 267 456 C2H2-type 5. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1)|skin(1) 4 CAACATCAGACAACTCATACA 0.338 17 120 --- --- --- --- PASS TOX3 27324 broad.mit.edu 37 16 52473846 52473846 + Missense_Mutation SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr16:52473846C>A uc002egw.2 - 7 1193 c.1022G>T c.(1021-1023)CGT>CTT p.R341L TOX3_uc010vgt.1_Missense_Mutation_p.R336L|TOX3_uc010vgu.1_Missense_Mutation_p.R341L NM_001080430 NP_001073899 O15405 TOX3_HUMAN TOX high mobility group box family member 3 341 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity 0 CTGAACAGAACGGATGGTCTG 0.458 10 51 --- --- --- --- PASS CHD9 80205 broad.mit.edu 37 16 53338368 53338368 + Silent SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr16:53338368C>T uc002ehb.2 + 30 6614 c.6450C>T c.(6448-6450)TCC>TCT p.S2150S CHD9_uc002egy.2_Silent_p.S2150S|CHD9_uc002ehc.2_Silent_p.S2150S|CHD9_uc002ehf.2_Silent_p.S1264S|CHD9_uc010cbw.2_Intron|CHD9_uc002ehg.1_Silent_p.S156S NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2150 Ser-rich. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) CATCTTCTTCCTCATCATCCT 0.308 3 8 --- --- --- --- PASS LDHD 197257 broad.mit.edu 37 16 75148012 75148012 + Silent SNP C G G TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr16:75148012C>G uc002fdm.2 - 6 797 c.750G>C c.(748-750)GGG>GGC p.G250G LDHD_uc002fdn.2_Silent_p.G227G NM_153486 NP_705690 Q86WU2 LDHD_HUMAN D-lactate dehydrogenase isoform 1 precursor 250 FAD-binding PCMH-type. D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding 0 GGCCCAGCGTCCCCTCGGAGC 0.662 71 52 --- --- --- --- PASS CHST5 23563 broad.mit.edu 37 16 75563556 75563556 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr16:75563556C>T uc002fei.2 - 3 2122 c.727G>A c.(727-729)GAC>AAC p.D243N CHST5_uc002fej.1_Missense_Mutation_p.D249N NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) 243 Lumenal (Potential). N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 ATGCCGTTGTCGCGTGCCAGT 0.726 10 17 --- --- --- --- PASS CLEC3A 10143 broad.mit.edu 37 16 78056612 78056612 + Missense_Mutation SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr16:78056612G>T uc002ffh.3 + 1 170 c.89G>T c.(88-90)AGG>ATG p.R30M NM_005752 NP_005743 O75596 CLC3A_HUMAN C-type lectin domain family 3 member A 30 skeletal system development extracellular region sugar binding 0 TTAAAAGCCAGGAAGCACAGC 0.483 3 51 --- --- --- --- PASS CDYL2 124359 broad.mit.edu 37 16 80638367 80638367 + Missense_Mutation SNP A G G TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr16:80638367A>G uc002ffs.2 - 7 1544 c.1439T>C c.(1438-1440)CTC>CCC p.L480P NM_152342 NP_689555 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 480 nucleus catalytic activity|protein binding central_nervous_system(1) 1 CTTGAGCATGAGGCATTCCTT 0.532 40 102 --- --- --- --- PASS KLHL36 79786 broad.mit.edu 37 16 84691194 84691194 + Missense_Mutation SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr16:84691194G>A uc002fig.2 + 3 922 c.781G>A c.(781-783)GCC>ACC p.A261T KLHL36_uc010chl.2_Missense_Mutation_p.A260T NM_024731 NP_079007 Q8N4N3 KLH36_HUMAN kelch-like 36 261 skin(2) 2 GCCCAAGGAGGCCAACTGCGA 0.672 4 35 --- --- --- --- PASS ITGAE 3682 broad.mit.edu 37 17 3664340 3664340 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr17:3664340C>T uc002fwo.3 - 6 664 c.565G>A c.(565-567)GAG>AAG p.E189K NM_002208 NP_002199 P38570 ITAE_HUMAN integrin, alpha E precursor 189 Glu-rich (acidic).|Extracellular (Potential).|X-domain (extra domain). cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity large_intestine(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) tcctcctcctccttgtcttcc 0.413 23 62 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577106 7577106 + Missense_Mutation SNP G A A rs17849781 TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr17:7577106G>A uc002gim.2 - 8 1026 c.832C>T c.(832-834)CCT>TCT p.P278S TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.P278S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P146S|TP53_uc010cng.1_Missense_Mutation_p.P146S|TP53_uc002gii.1_Missense_Mutation_p.P146S|TP53_uc010cnh.1_Missense_Mutation_p.P278S|TP53_uc010cni.1_Missense_Mutation_p.P278S|TP53_uc002gij.2_Missense_Mutation_p.P278S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 278 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and 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.P278L(52)|p.P278S(48)|p.P278R(26)|p.P278T(21)|p.P278A(18)|p.P278H(11)|p.0?(7)|p.P278fs*67(5)|p.P278F(3)|p.P278fs*28(2)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(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) TCTCTCCCAGGACAGGCACAA 0.552 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 23 11 --- --- --- --- PASS MYH13 8735 broad.mit.edu 37 17 10212956 10212956 + Silent SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr17:10212956C>A uc002gmk.1 - 34 4938 c.4848G>T c.(4846-4848)CTG>CTT p.L1616L NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1616 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TCTTTAGCCTCAGGGCGTCGT 0.567 3 12 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10359839 10359839 + Missense_Mutation SNP T C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr17:10359839T>C uc002gmn.2 - 17 2042 c.1931A>G c.(1930-1932)AAG>AGG p.K644R uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 644 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 AGAAGAACCCTTCTTTTTGCC 0.333 46 34 --- --- --- --- PASS MYH3 4621 broad.mit.edu 37 17 10543358 10543358 + Silent SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr17:10543358C>T uc002gmq.1 - 21 2714 c.2637G>A c.(2635-2637)GTG>GTA p.V879V NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 879 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 GGACCAGAGTCACCAGTTTTT 0.403 25 63 --- --- --- --- PASS STAC2 342667 broad.mit.edu 37 17 37370535 37370535 + Missense_Mutation SNP C G G TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr17:37370535C>G uc002hrs.2 - 8 1111 c.892G>C c.(892-894)GTT>CTT p.V298L STAC2_uc010cvt.2_Missense_Mutation_p.V156L NM_198993 NP_945344 Q6ZMT1 STAC2_HUMAN SH3 and cysteine rich domain 2 298 SH3. intracellular signal transduction metal ion binding pancreas(1) 1 TAGAGTGCAACGTAGGAGTAC 0.607 60 87 --- --- --- --- PASS C17orf37 84299 broad.mit.edu 37 17 37886012 37886012 + Missense_Mutation SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr17:37886012C>A uc002hsq.2 - 3 230 c.190G>T c.(190-192)GCC>TCC p.A64S NM_032339 NP_115715 Q9BRT3 CQ037_HUMAN hypothetical protein LOC84299 64 cell redox homeostasis cytosol|membrane selenium binding 0 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;3.72e-63)|all cancers(3;1.87e-56)|BRCA - Breast invasive adenocarcinoma(8;6.8e-45)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) ATCTCAAAGGCACCTGGTAAG 0.483 36 155 --- --- --- --- PASS JUP 3728 broad.mit.edu 37 17 39913763 39913763 + Silent SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr17:39913763G>A uc002hxq.2 - 12 2227 c.1950C>T c.(1948-1950)TTC>TTT p.F650F JUP_uc010wfs.1_Intron|JUP_uc002hxr.2_Silent_p.F650F|JUP_uc002hxs.2_Silent_p.F650F NM_021991 NP_068831 P14923 PLAK_HUMAN junction plakoglobin 650 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity ovary(2)|lung(2)|breast(1) 5 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) CGGAGATGCGGAACAGGACGG 0.622 16 109 --- --- --- --- PASS TBX21 30009 broad.mit.edu 37 17 45821586 45821586 + Missense_Mutation SNP A G G TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr17:45821586A>G uc002ilv.1 + 4 1005 c.794A>G c.(793-795)AAG>AGG p.K265R NM_013351 NP_037483 Q9UL17 TBX21_HUMAN T-box 21 265 T-box. lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 TCCCTCCATAAGTACCAGCCC 0.547 8 85 --- --- --- --- PASS COPZ2 51226 broad.mit.edu 37 17 46105865 46105865 + Silent SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr17:46105865G>A uc002imy.2 - 12 571 c.558C>T c.(556-558)GGC>GGT p.G186G NM_016429 NP_057513 Q9P299 COPZ2_HUMAN coatomer protein complex, subunit zeta 2 186 intracellular protein transport|vesicle-mediated transport cis-Golgi network|COPI vesicle coat 0 CAGTCAAGCCGCCATCATCTG 0.592 5 8 --- --- --- --- PASS LUC7L3 51747 broad.mit.edu 37 17 48819091 48819091 + Missense_Mutation SNP A T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr17:48819091A>T uc002isr.2 + 5 542 c.425A>T c.(424-426)CAG>CTG p.Q142L LUC7L3_uc002isp.1_Missense_Mutation_p.Q66L|LUC7L3_uc010wmw.1_Missense_Mutation_p.Q66L|LUC7L3_uc002isq.2_Missense_Mutation_p.Q142L|LUC7L3_uc002iss.2_Missense_Mutation_p.Q142L NM_006107 NP_006098 O95232 LC7L3_HUMAN LUC7-like 3 142 Potential. apoptosis|mRNA processing|response to stress|RNA splicing focal adhesion|nuclear speck DNA binding|mRNA binding|protein binding 0 CTTCTGCAACAGGTGAGAATT 0.323 9 57 --- --- --- --- PASS C17orf82 388407 broad.mit.edu 37 17 59489450 59489450 + Missense_Mutation SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr17:59489450C>A uc002izh.1 + 1 339 c.114C>A c.(112-114)TTC>TTA p.F38L NM_203425 NP_982249 Q86X59 CQ082_HUMAN hypothetical protein LOC388407 38 0 CCCCCTCCTTCGCTGTCCTTG 0.682 OREG0024630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 29 --- --- --- --- PASS DNAI2 64446 broad.mit.edu 37 17 72308155 72308155 + Missense_Mutation SNP A T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr17:72308155A>T uc002jkf.2 + 12 1607 c.1508A>T c.(1507-1509)GAG>GTG p.E503V DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_5'Flank|DNAI2_uc002jki.2_RNA NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate polypeptide 2 503 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity ovary(2)|central_nervous_system(1) 3 TTTGAGCGTGAGACCCGGCGA 0.652 Kartagener_syndrome 21 37 --- --- --- --- PASS RNF157 114804 broad.mit.edu 37 17 74163102 74163102 + Missense_Mutation SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr17:74163102C>A uc002jqz.2 - 5 618 c.549G>T c.(547-549)TGG>TGT p.W183C RNF157_uc002jra.2_Missense_Mutation_p.W183C NM_052916 NP_443148 Q96PX1 RN157_HUMAN ring finger protein 157 183 zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(166;0.187) CCTCTTCGGCCCACTCGGAGG 0.602 18 149 --- --- --- --- PASS AATK 9625 broad.mit.edu 37 17 79095253 79095253 + Missense_Mutation SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr17:79095253G>A uc010dia.2 - 11 2563 c.2483C>T c.(2482-2484)ACG>ATG p.T828M AATK_uc010dhz.2_RNA NM_001080395 NP_001073864 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 828 Pro-rich. integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1) 9 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) AGTAGCAGGCGTGGGAGAGTC 0.672 4 6 --- --- --- --- PASS C18orf19 125228 broad.mit.edu 37 18 13671861 13671861 + Silent SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr18:13671861C>T uc010dlh.2 - 4 1017 c.585G>A c.(583-585)AAG>AAA p.K195K C18orf19_uc010dlg.2_Intron|C18orf19_uc010dli.2_Silent_p.K195K|C18orf19_uc002ksj.3_Silent_p.K195K|C18orf19_uc010dlj.2_Intron NM_001098801 NP_001092271 Q96ND0 CR019_HUMAN hypothetical protein LOC125228 195 DUF1279. integral to membrane breast(2) 2 CAGTACCCACCTTAAACAAGG 0.448 12 60 --- --- --- --- PASS SLC39A6 25800 broad.mit.edu 37 18 33706701 33706701 + Silent SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr18:33706701G>T uc010dmy.2 - 2 560 c.270C>A c.(268-270)ATC>ATA p.I90I SLC39A6_uc002kzj.2_Intron NM_012319 NP_036451 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), 90 Extracellular (Potential). integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity ovary(1)|pancreas(1) 2 ggtgTATATGGATTCTTTTAA 0.159 16 60 --- --- --- --- PASS CDH7 1005 broad.mit.edu 37 18 63430272 63430272 + Missense_Mutation SNP C G G TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr18:63430272C>G uc002ljz.2 + 2 519 c.194C>G c.(193-195)CCC>CGC p.P65R CDH7_uc002lka.2_Missense_Mutation_p.P65R|CDH7_uc002lkb.2_Missense_Mutation_p.P65R NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 65 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) GGTTCAGACCCCCTCTATGTA 0.423 6 50 --- --- --- --- PASS GALR1 2587 broad.mit.edu 37 18 74962661 74962661 + Missense_Mutation SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr18:74962661C>A uc002lms.3 + 1 654 c.157C>A c.(157-159)CTA>ATA p.L53I NM_001480 NP_001471 P47211 GALR1_HUMAN galanin receptor 1 53 Helical; Name=1; (Potential). digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity lung(1) 1 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) GGGCAACAGCCTAGTGATCAC 0.667 12 14 --- --- --- --- PASS ODF3L2 284451 broad.mit.edu 37 19 463979 463979 + Silent SNP T A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr19:463979T>A uc002lor.2 - 4 971 c.735A>T c.(733-735)CCA>CCT p.P245P SHC2_uc002loq.3_5'Flank|ODF3L2_uc010drp.2_Silent_p.P209P NM_182577 NP_872383 Q3SX64 OD3L2_HUMAN outer dense fiber of sperm tails 3-like 2 245 DUF1309 3.|Pro-rich. 0 TGACCTGCTCTGGGCAGTGGG 0.612 13 7 --- --- --- --- PASS DAPK3 1613 broad.mit.edu 37 19 3964897 3964897 + Missense_Mutation SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr19:3964897C>A uc002lzc.1 - 2 248 c.155G>T c.(154-156)AGC>ATC p.S52I DAPK3_uc002lzd.1_Missense_Mutation_p.S52I NM_001348 NP_001339 O43293 DAPK3_HUMAN death-associated protein kinase 3 52 Protein kinase. apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CCCACGCCGGCTGGATGACAG 0.612 15 46 --- --- --- --- PASS FUT6 2528 broad.mit.edu 37 19 5831879 5831879 + Missense_Mutation SNP T A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr19:5831879T>A uc002mdf.1 - 4 1226 c.700A>T c.(700-702)ATG>TTG p.M234L FUT6_uc002mdg.1_Missense_Mutation_p.M234L|FUT6_uc002mdh.1_Missense_Mutation_p.M234L|FUT6_uc010dul.1_Missense_Mutation_p.M234L NM_001040701 NP_001035791 P51993 FUT6_HUMAN fucosyltransferase 6 234 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity 0 AGCGTCTCCATCATGGTTCCC 0.617 31 88 --- --- --- --- PASS ZNF846 162993 broad.mit.edu 37 19 9869345 9869345 + Silent SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr19:9869345G>A uc002mmb.1 - 6 939 c.408C>T c.(406-408)CAC>CAT p.H136H ZNF846_uc010xky.1_RNA|ZNF846_uc010xkz.1_RNA|ZNF846_uc010dww.2_Silent_p.H7H|ZNF846_uc002mmc.1_Silent_p.H7H NM_001077624 NP_001071092 Q147U1 ZN846_HUMAN zinc finger protein 846 136 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TCTCTCCAATGTGAGTTATCA 0.378 44 100 --- --- --- --- PASS CYP4F2 8529 broad.mit.edu 37 19 15989680 15989680 + Silent SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr19:15989680G>A uc002nbs.1 - 13 1514 c.1464C>T c.(1462-1464)CGC>CGT p.R488R CYP4F2_uc010xot.1_Silent_p.R339R NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 488 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 GGACGCGGAAGCGCAGCAGCG 0.682 18 16 --- --- --- --- PASS AP1M1 8907 broad.mit.edu 37 19 16317171 16317171 + Silent SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr19:16317171G>A uc002ndu.2 + 3 392 c.219G>A c.(217-219)AAG>AAA p.K73K AP1M1_uc002ndv.2_Silent_p.K73K|AP1M1_uc010xpd.1_Silent_p.K73K NM_032493 NP_115882 Q9BXS5 AP1M1_HUMAN adaptor-related protein complex 1, mu 1 subunit 73 cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding ovary(3)|breast(1) 4 CATCCAAGAAGAACGCGTGCG 0.587 45 138 --- --- --- --- PASS ZNF506 440515 broad.mit.edu 37 19 19905475 19905475 + Missense_Mutation SNP G C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr19:19905475G>C uc010eci.2 - 4 1369 c.1221C>G c.(1219-1221)AAC>AAG p.N407K ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Missense_Mutation_p.N375K NM_001099269 NP_001092739 Q5JVG8 ZN506_HUMAN zinc finger protein 506 isoform 1 407 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding 0 CTGAGGACCAGTTAAAAGCTT 0.358 9 57 --- --- --- --- PASS POP4 10775 broad.mit.edu 37 19 30104871 30104871 + Missense_Mutation SNP G A A rs61731483 byFrequency TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr19:30104871G>A uc002nsf.2 + 6 574 c.518G>A c.(517-519)CGC>CAC p.R173H POP4_uc002nsg.2_Missense_Mutation_p.R92H NM_006627 NP_006618 O95707 RPP29_HUMAN processing of precursor 4 173 mRNA cleavage|rRNA processing|tRNA processing nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease P activity|RNA binding 0 Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225) AAAGAAGACCGCCTGAAAGGT 0.448 14 39 --- --- --- --- PASS C19orf2 8725 broad.mit.edu 37 19 30498384 30498384 + Missense_Mutation SNP C G G TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr19:30498384C>G uc002nsr.2 + 7 555 c.525C>G c.(523-525)CAC>CAG p.H175Q C19orf2_uc002nsq.2_Missense_Mutation_p.H157Q|C19orf2_uc002nss.2_Missense_Mutation_p.H135Q|C19orf2_uc002nst.2_Missense_Mutation_p.H99Q NM_003796 NP_003787 O94763 RMP_HUMAN RPB5-mediating protein isoform a 175 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding ovary(1)|kidney(1) 2 Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) Hepatocellular(1079;0.137)|Renal(1328;0.228) STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115) STAD - Stomach adenocarcinoma(1328;0.18) TAGCAAAACACCGAATTGCTC 0.368 6 39 --- --- --- --- PASS CA11 770 broad.mit.edu 37 19 49143530 49143530 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr19:49143530C>T uc002pjz.1 - 4 855 c.293G>A c.(292-294)GGA>GAA p.G98E SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|DBP_uc002pjx.3_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank NM_001217 NP_001208 O75493 CAH11_HUMAN carbonic anhydrase XI precursor 98 extracellular region 0 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016) GTACAAGGTTCCCCGGAGCTG 0.552 31 65 --- --- --- --- PASS NUCB1 4924 broad.mit.edu 37 19 49422337 49422337 + Missense_Mutation SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr19:49422337G>T uc002plb.3 + 9 939 c.867G>T c.(865-867)ATG>ATT p.M289I NUCB1_uc002pla.2_Missense_Mutation_p.M289I|NUCB1_uc002plc.2_Missense_Mutation_p.M289I|NUCB1_uc002pld.2_5'UTR NM_006184 NP_006175 Q02818 NUCB1_HUMAN nucleobindin 1 precursor 289 Binds to GNAI2 and GNAI3 (By similarity). ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton calcium ion binding|DNA binding 0 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) TGCGGGAGATGGAGGAGGAGC 0.612 9 35 --- --- --- --- PASS PTOV1 53635 broad.mit.edu 37 19 50358105 50358105 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr19:50358105C>T uc002pqf.1 + 4 580 c.410C>T c.(409-411)CCG>CTG p.P137L PTOV1_uc010ybf.1_Missense_Mutation_p.P105L|PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Missense_Mutation_p.P105L|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA NM_017432 NP_059128 Q86YD1 PTOV1_HUMAN prostate tumor overexpressed 1 137 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|plasma membrane 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) GACCAGTGGCCGCAGAAGCTG 0.672 9 37 --- --- --- --- PASS KLK15 55554 broad.mit.edu 37 19 51329905 51329905 + Missense_Mutation SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr19:51329905G>A uc002ptl.2 - 4 621 c.590C>T c.(589-591)GCG>GTG p.A197V KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Intron|KLK15_uc002pto.2_Missense_Mutation_p.A196V|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Intron|KLK15_uc010eod.2_Intron NM_017509 NP_059979 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 isoform 4 197 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity lung(1)|breast(1) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) TCTGCCCTCCGCGCCTGCACA 0.587 33 82 --- --- --- --- PASS SIGLEC8 27181 broad.mit.edu 37 19 51961567 51961567 + Missense_Mutation SNP A T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr19:51961567A>T uc002pwt.2 - 1 142 c.75T>A c.(73-75)GAT>GAA p.D25E SIGLEC8_uc010yda.1_Missense_Mutation_p.D25E|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.D25E NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 precursor 25 Extracellular (Potential). cell adhesion integral to membrane sugar binding|transmembrane receptor activity ovary(2)|kidney(1)|central_nervous_system(1)|skin(1) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GCAAGTAACCATCCCCATATT 0.512 24 105 --- --- --- --- PASS ZNF83 55769 broad.mit.edu 37 19 53116804 53116804 + Silent SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr19:53116804G>A uc002pzu.3 - 2 2258 c.1014C>T c.(1012-1014)ATC>ATT p.I338I ZNF83_uc002pzv.3_Silent_p.I338I|ZNF83_uc010eps.2_Silent_p.I310I|ZNF83_uc010ept.2_Silent_p.I338I|ZNF83_uc010epu.2_Silent_p.I338I|ZNF83_uc010epv.2_Silent_p.I338I|ZNF83_uc010epw.2_Silent_p.I338I|ZNF83_uc010epx.2_Silent_p.I310I|ZNF83_uc010epy.2_Silent_p.I338I|ZNF83_uc010epz.2_Silent_p.I310I NM_018300 NP_060770 P51522 ZNF83_HUMAN zinc finger protein 83 isoform a 338 C2H2-type 9. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) CTCCAGTGTGGATTCTCCAGT 0.413 5 201 --- --- --- --- PASS ZNF211 10520 broad.mit.edu 37 19 58152335 58152335 + Missense_Mutation SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr19:58152335G>A uc002qpq.2 + 3 661 c.481G>A c.(481-483)GCA>ACA p.A161T ZNF211_uc010yhb.1_Missense_Mutation_p.A165T|ZNF211_uc002qpp.2_Missense_Mutation_p.A174T|ZNF211_uc002qpr.2_Missense_Mutation_p.A225T|ZNF211_uc002qps.2_Missense_Mutation_p.A226T|ZNF211_uc002qpt.2_Missense_Mutation_p.A173T|ZNF211_uc010yhc.1_Missense_Mutation_p.A173T|ZNF211_uc010yhd.1_Missense_Mutation_p.A100T|ZNF211_uc010yhe.1_Missense_Mutation_p.A152T NM_198855 NP_942152 Q13398 ZN211_HUMAN zinc finger protein 211 isoform 2 161 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CATTACAGAGGCACCTTTCAG 0.463 25 87 --- --- --- --- PASS SSTR4 6754 broad.mit.edu 37 20 23016254 23016254 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr20:23016254C>T uc002wsr.2 + 1 198 c.134C>T c.(133-135)GCG>GTG p.A45V NM_001052 NP_001043 P31391 SSR4_HUMAN somatostatin receptor 4 45 Extracellular (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) gcgcgggcggcgggcATGGTC 0.557 7 21 --- --- --- --- PASS C20orf114 92747 broad.mit.edu 37 20 31876669 31876669 + Missense_Mutation SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr20:31876669G>A uc002wyw.1 + 3 399 c.238G>A c.(238-240)GTC>ATC p.V80I C20orf114_uc010gej.1_Missense_Mutation_p.V80I NM_033197 NP_149974 Q8TDL5 LPLC1_HUMAN LPLUNC1 protein precursor 80 extracellular space lipid binding central_nervous_system(2)|skin(2) 4 GGTGAACACCGTCCTGAAGCA 0.627 11 32 --- --- --- --- PASS C20orf114 92747 broad.mit.edu 37 20 31894731 31894731 + Missense_Mutation SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr20:31894731G>T uc002wyw.1 + 15 1494 c.1333G>T c.(1333-1335)GGG>TGG p.G445W C20orf114_uc002wyx.1_RNA NM_033197 NP_149974 Q8TDL5 LPLC1_HUMAN LPLUNC1 protein precursor 445 extracellular space lipid binding central_nervous_system(2)|skin(2) 4 ATTAAGATCTGGGGTCCCAGT 0.572 18 115 --- --- --- --- PASS DSN1 79980 broad.mit.edu 37 20 35381248 35381248 + Missense_Mutation SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr20:35381248C>A uc010gfr.2 - 11 1387 c.1014G>T c.(1012-1014)AAG>AAT p.K338N DSN1_uc002xfz.2_Missense_Mutation_p.K338N|DSN1_uc002xfy.3_Missense_Mutation_p.K128N|DSN1_uc002xga.2_Missense_Mutation_p.K338N|DSN1_uc010zvs.1_Missense_Mutation_p.K231N|DSN1_uc002xgc.2_Missense_Mutation_p.K322N|DSN1_uc002xgb.2_Missense_Mutation_p.K322N NM_001145316 NP_001138788 Q9H410 DSN1_HUMAN DSN1, MIND kinetochore complex component, 338 cell division|chromosome segregation|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding ovary(2) 2 Myeloproliferative disorder(115;0.00874) GTAGCTGAAGCTTCAACAGTT 0.428 20 87 --- --- --- --- PASS DHX35 60625 broad.mit.edu 37 20 37634944 37634944 + Silent SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr20:37634944G>A uc002xjh.2 + 12 1178 c.1167G>A c.(1165-1167)CAG>CAA p.Q389Q DHX35_uc010zwa.1_Silent_p.Q234Q|DHX35_uc010zwb.1_Silent_p.Q234Q|DHX35_uc010zwc.1_Silent_p.Q358Q NM_021931 NP_068750 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 389 Helicase C-terminal. catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding lung(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) CAGCTAATCAGCGAGCAGGAC 0.493 146 84 --- --- --- --- PASS CSE1L 1434 broad.mit.edu 37 20 47682981 47682981 + Missense_Mutation SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr20:47682981G>A uc002xty.2 + 5 544 c.410G>A c.(409-411)CGC>CAC p.R137H CSE1L_uc010zyg.1_Intron|CSE1L_uc010ghx.2_Missense_Mutation_p.R137H NM_001316 NP_001307 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like protein 137 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity large_intestine(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) ATGGTGAATCGCTTTCAGAGT 0.353 91 43 --- --- --- --- PASS CABLES2 81928 broad.mit.edu 37 20 60969244 60969244 + Missense_Mutation SNP A G G TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr20:60969244A>G uc002ycv.2 - 5 690 c.683T>C c.(682-684)CTA>CCA p.L228P NM_031215 NP_112492 Q9BTV7 CABL2_HUMAN Cdk5 and Abl enzyme substrate 2 228 cell cycle|cell division|regulation of cell cycle|regulation of cell division cyclin-dependent protein kinase regulator activity pancreas(1) 1 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) CACACCTTCTAGCTCAAAGAC 0.632 15 123 --- --- --- --- PASS ADAMTS1 9510 broad.mit.edu 37 21 28213384 28213384 + Silent SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr21:28213384C>A uc002ymf.2 - 4 1766 c.1311G>T c.(1309-1311)CTG>CTT p.L437L NM_006988 NP_008919 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 437 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding lung(3)|large_intestine(2)|central_nervous_system(1) 6 Breast(209;0.000962) Lung(58;0.215) GGCTGTGGTCCAGGTTGGAAA 0.483 4 113 --- --- --- --- PASS BRWD1 54014 broad.mit.edu 37 21 40582738 40582738 + Missense_Mutation SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr21:40582738G>T uc002yxk.1 - 35 4157 c.4018C>A c.(4018-4020)CAA>AAA p.Q1340K BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.Q1340K|BRWD1_uc010god.1_Intron NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1340 Bromo 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TCAACAGGTTGTCTAAATGGT 0.363 3 48 --- --- --- --- PASS DIP2A 23181 broad.mit.edu 37 21 47965852 47965852 + Missense_Mutation SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr21:47965852G>T uc002zjo.2 + 20 2555 c.2372G>T c.(2371-2373)GGC>GTC p.G791V DIP2A_uc011afy.1_Missense_Mutation_p.G727V|DIP2A_uc011afz.1_Missense_Mutation_p.G787V|DIP2A_uc002zjl.2_Missense_Mutation_p.G791V|DIP2A_uc002zjm.2_Missense_Mutation_p.G791V|DIP2A_uc010gql.2_Missense_Mutation_p.G748V|DIP2A_uc002zjn.2_Missense_Mutation_p.G791V|DIP2A_uc002zjq.2_Missense_Mutation_p.G183V NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 791 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) ACCAGGACAGGCCTGCTGGGC 0.602 4 79 --- --- --- --- PASS DIP2A 23181 broad.mit.edu 37 21 47970521 47970521 + Silent SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr21:47970521C>T uc002zjo.2 + 23 2886 c.2703C>T c.(2701-2703)CCC>CCT p.P901P DIP2A_uc011afy.1_Silent_p.P837P|DIP2A_uc011afz.1_Silent_p.P897P NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 901 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) ACACCTTGCCCAAGGCTCCTC 0.577 8 15 --- --- --- --- PASS MYH9 4627 broad.mit.edu 37 22 36710337 36710337 + Missense_Mutation SNP G C C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr22:36710337G>C uc003apg.2 - 13 1638 c.1407C>G c.(1405-1407)ATC>ATG p.I469M MYH9_uc003aph.1_Missense_Mutation_p.I333M NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 469 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 TGGTGTAATTGATGCACAGCT 0.527 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 13 26 --- --- --- --- PASS TRIOBP 11078 broad.mit.edu 37 22 38121714 38121714 + Missense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr22:38121714C>T uc003atr.2 + 7 3422 c.3151C>T c.(3151-3153)CCG>TCG p.P1051S TRIOBP_uc003atu.2_Missense_Mutation_p.P879S|TRIOBP_uc003atq.1_Missense_Mutation_p.P1051S|TRIOBP_uc003ats.1_Missense_Mutation_p.P879S NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 1051 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) TGAGAGTGAACCGCCCCACCA 0.667 19 120 --- --- --- --- PASS SMC1B 27127 broad.mit.edu 37 22 45802340 45802340 + Splice_Site SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chr22:45802340C>A uc003bgc.2 - 4 667 c.615_splice c.e4+1 p.E205_splice SMC1B_uc003bgd.2_Splice_Site_p.E205_splice|SMC1B_uc003bge.1_Splice_Site NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN SMC1 structural maintenance of chromosomes chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding ovary(2) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TGACATCTTACCTCTTCCTTC 0.343 5 44 --- --- --- --- PASS NLGN4X 57502 broad.mit.edu 37 X 5821715 5821715 + Missense_Mutation SNP G A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chrX:5821715G>A uc010ndh.2 - 5 1505 c.1004C>T c.(1003-1005)ACC>ATC p.T335I NLGN4X_uc004crp.2_Missense_Mutation_p.T355I|NLGN4X_uc004crq.2_Missense_Mutation_p.T335I|NLGN4X_uc010ndi.2_Missense_Mutation_p.T372I|NLGN4X_uc004crr.2_Missense_Mutation_p.T335I|NLGN4X_uc010ndj.2_Missense_Mutation_p.T335I NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 335 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 TATGTGGTAGGTGGCCGGGGT 0.582 20 59 --- --- --- --- PASS RAI2 10742 broad.mit.edu 37 X 17819468 17819468 + Missense_Mutation SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chrX:17819468C>A uc004cyf.2 - 3 1233 c.663G>T c.(661-663)TTG>TTT p.L221F RAI2_uc004cyg.2_Missense_Mutation_p.L221F|RAI2_uc010nfa.2_Missense_Mutation_p.L221F|RAI2_uc004cyh.3_Missense_Mutation_p.L221F|RAI2_uc011miy.1_Missense_Mutation_p.L171F NM_021785 NP_068557 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 221 Pro-rich. embryo development ovary(1)|breast(1) 2 Hepatocellular(33;0.183) CCAGGGGGGACAAGGGGGAGC 0.627 8 21 --- --- --- --- PASS GK 2710 broad.mit.edu 37 X 30695509 30695509 + Nonsense_Mutation SNP C T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chrX:30695509C>T uc004dch.3 + 4 456 c.277C>T c.(277-279)CAG>TAG p.Q93* GK_uc010ngj.2_Nonsense_Mutation_p.Q93*|GK_uc004dci.3_Nonsense_Mutation_p.Q93*|GK_uc011mjz.1_5'UTR|GK_uc011mka.1_5'UTR|GK_uc010ngk.2_5'UTR NM_203391 NP_976325 P32189 GLPK_HUMAN glycerol kinase isoform a 93 glycerol-3-phosphate metabolic process|triglyceride biosynthetic process cytosol|mitochondrial outer membrane ATP binding|glycerol kinase activity central_nervous_system(1) 1 TGTCAGCAACCAGAGGGAAAC 0.413 52 20 --- --- --- --- PASS CCNB3 85417 broad.mit.edu 37 X 50052552 50052552 + Silent SNP A T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chrX:50052552A>T uc004dox.3 + 6 1681 c.1383A>T c.(1381-1383)CCA>CCT p.P461P CCNB3_uc004doy.2_Silent_p.P461P|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 461 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) TAAAGTCTCCAACTGAGGAGT 0.473 11 41 --- --- --- --- PASS RLIM 51132 broad.mit.edu 37 X 73812015 73812015 + Missense_Mutation SNP C A A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chrX:73812015C>A uc004ebu.2 - 5 1425 c.1135G>T c.(1135-1137)GTC>TTC p.V379F RLIM_uc004ebw.2_Missense_Mutation_p.V379F NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 379 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 ATGGTACTGACATAGGTTCTC 0.428 14 22 --- --- --- --- PASS DCAF12L1 139170 broad.mit.edu 37 X 125685917 125685917 + Missense_Mutation SNP G T T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4cb06585-62f9-4aae-969a-2085b4d514c3 3f6485cb-b18f-452c-8516-da639240544c g.chrX:125685917G>T uc004eul.2 - 1 926 c.675C>A c.(673-675)GAC>GAA p.D225E NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 225 WD 2. skin(3)|ovary(1) 4 CATCGAACTTGTCCGGGTCCA 0.642 13 9 --- --- --- --- PASS