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 TAS1R1 80835 broad.mit.edu 37 1 6637114 6637114 + Silent SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:6637114C>A uc001ant.2 + 5 1578 c.1578C>A c.(1576-1578)ACC>ACA p.T526T TAS1R1_uc001anu.2_Silent_p.T272T|TAS1R1_uc001anv.2_Silent_p.T272T|TAS1R1_uc001anw.2_Intron|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN sweet taste receptor T1r isoform b 526 Extracellular (Potential). sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) GGGCTGGGACCTTCCTCAACA 0.617 4 19 --- --- --- --- PASS PINK1 65018 broad.mit.edu 37 1 20975099 20975099 + Missense_Mutation SNP G C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:20975099G>C uc001bdm.2 + 6 1319 c.1225G>C c.(1225-1227)GGA>CGA p.G409R PINK1_uc001bdn.2_Missense_Mutation_p.G102R NM_032409 NP_115785 Q9BXM7 PINK1_HUMAN PTEN induced putative kinase 1 precursor 409 Protein kinase.|Cytoplasmic (Potential). G -> V (in PARK6). cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress cytosol|integral to membrane|mitochondrial outer membrane ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding ovary(2)|central_nervous_system(1) 3 all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GGATCGGGGCGGAAACGGCTG 0.627 5 28 --- --- --- --- PASS CATSPER4 378807 broad.mit.edu 37 1 26524860 26524860 + Silent SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:26524860C>A uc010oez.1 + 6 762 c.762C>A c.(760-762)CTC>CTA p.L254L CATSPER4_uc010oey.1_Silent_p.L76L|CATSPER4_uc009vsf.2_RNA NM_198137 NP_937770 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 254 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity ovary(1) 1 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) TGTACACCCTCTTCATCTGCA 0.522 6 104 --- --- --- --- PASS GRIK3 2899 broad.mit.edu 37 1 37356697 37356697 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:37356697C>A uc001caz.2 - 2 251 c.116G>T c.(115-117)GGA>GTA p.G39V GRIK3_uc001cba.1_Missense_Mutation_p.G39V NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 39 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GAAGATTCCTCCTGTGAAAGA 0.502 5 89 --- --- --- --- PASS RAVER2 55225 broad.mit.edu 37 1 65296547 65296547 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:65296547G>T uc001dbs.1 + 12 1994 c.1916G>T c.(1915-1917)CGA>CTA p.R639L RAVER2_uc001dbt.1_Missense_Mutation_p.R531L|RAVER2_uc010opb.1_Missense_Mutation_p.R364L NM_018211 NP_060681 Q9HCJ3 RAVR2_HUMAN ribonucleoprotein, PTB-binding 2 652 cytoplasm|nucleus nucleotide binding|RNA binding large_intestine(1) 1 AATGAAAAGCGAGGCTCATCA 0.358 4 106 --- --- --- --- PASS COL24A1 255631 broad.mit.edu 37 1 86523649 86523649 + Nonsense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:86523649C>A uc001dlj.2 - 10 1858 c.1816G>T c.(1816-1818)GGA>TGA p.G606* COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Nonsense_Mutation_p.G606* NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 606 Collagen-like 2. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) CCTTCTGGTCCAGCTAAACCC 0.333 5 31 --- --- --- --- PASS TARS2 80222 broad.mit.edu 37 1 150477118 150477118 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:150477118G>T uc001euq.2 + 15 1736 c.1729G>T c.(1729-1731)GCC>TCC p.A577S TARS2_uc001eur.2_Missense_Mutation_p.A495S|TARS2_uc009wlt.2_Missense_Mutation_p.A203S|TARS2_uc009wls.2_Missense_Mutation_p.A447S NM_025150 NP_079426 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial 577 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity ovary(1) 1 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;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) GCAGGCGGGTGCCCTGGAGCG 0.527 5 102 --- --- --- --- PASS LCE1F 353137 broad.mit.edu 37 1 152748937 152748937 + Silent SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:152748937C>A uc010pdv.1 + 1 90 c.90C>A c.(88-90)CCC>CCA p.P30P NM_178354 NP_848131 Q5T754 LCE1F_HUMAN late cornified envelope 1F 30 Pro-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) cgaagtgccccccaaagtgtc 0.403 17 40 --- --- --- --- PASS DENND4B 9909 broad.mit.edu 37 1 153914391 153914391 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:153914391G>T uc001fdd.1 - 6 1410 c.1009C>A c.(1009-1011)CTT>ATT p.L337I NM_014856 NP_055671 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 337 DENN. ovary(1) 1 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TAGCGGTAAAGGAAGGTGAGG 0.667 5 28 --- --- --- --- PASS NES 10763 broad.mit.edu 37 1 156640754 156640754 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:156640754C>A uc001fpq.2 - 4 3359 c.3226G>T c.(3226-3228)GAC>TAC p.D1076Y NM_006617 NP_006608 P48681 NEST_HUMAN nestin 1076 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GAGGCTTGGTCACCCCCTGGG 0.692 5 17 --- --- --- --- PASS CD1B 910 broad.mit.edu 37 1 158298754 158298754 + Missense_Mutation SNP A T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:158298754A>T uc001frx.2 - 5 1045 c.937T>A c.(937-939)TTG>ATG p.L313M CD1B_uc001frw.2_Missense_Mutation_p.L151M NM_001764 NP_001755 P29016 CD1B_HUMAN CD1B antigen precursor 313 Helical; (Potential). antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding ovary(2) 2 all_hematologic(112;0.0378) AAAAGGAGCAAGGAAGGCACT 0.428 13 61 --- --- --- --- PASS MNDA 4332 broad.mit.edu 37 1 158812030 158812030 + Silent SNP G C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:158812030G>C uc001fsz.1 + 2 287 c.87G>C c.(85-87)CTG>CTC p.L29L NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 29 DAPIN. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) AGTCCTTACTGGCCTATGATT 0.333 6 48 --- --- --- --- PASS MNDA 4332 broad.mit.edu 37 1 158812031 158812031 + Missense_Mutation SNP G A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:158812031G>A uc001fsz.1 + 2 288 c.88G>A c.(88-90)GCC>ACC p.A30T NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 30 DAPIN. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) GTCCTTACTGGCCTATGATTT 0.328 6 48 --- --- --- --- PASS FCER1A 2205 broad.mit.edu 37 1 159275872 159275872 + Silent SNP G A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:159275872G>A uc001ftq.2 + 5 525 c.426G>A c.(424-426)AAG>AAA p.K142K NM_002001 NP_001992 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor 142 Ig-like 2.|Extracellular (Potential). integral to plasma membrane lung(2)|skin(2)|prostate(1) 5 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) ATGTGTACAAGGTGATCTATT 0.502 13 54 --- --- --- --- PASS GPR161 23432 broad.mit.edu 37 1 168056836 168056836 + Silent SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:168056836C>A uc001gfc.2 - 7 1625 c.1311G>T c.(1309-1311)GTG>GTT p.V437V GPR161_uc001gfb.2_Silent_p.V305V|GPR161_uc010pll.1_Silent_p.V347V|GPR161_uc010plm.1_Silent_p.V323V|GPR161_uc009wvo.2_Silent_p.V454V|GPR161_uc001gfd.2_Silent_p.V437V|GPR161_uc010pln.1_Silent_p.V457V NM_153832 NP_722561 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 isoform 2 437 Cytoplasmic (Potential). multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_hematologic(923;0.215) TGATTTGTTCCACTTCATCCT 0.483 6 119 --- --- --- --- PASS NCF2 4688 broad.mit.edu 37 1 183559390 183559390 + Silent SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:183559390G>T uc001gqj.3 - 1 350 c.75C>A c.(73-75)GCC>GCA p.A25A NCF2_uc010pod.1_Silent_p.A25A|NCF2_uc010poe.1_Silent_p.A25A|NCF2_uc001gqk.3_Silent_p.A25A NM_000433 NP_000424 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 25 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding ovary(3) 3 AGGCATCCAGGGCTCCCTTCC 0.552 13 82 --- --- --- --- PASS EDEM3 80267 broad.mit.edu 37 1 184695505 184695505 + Missense_Mutation SNP T C C rs142115161 TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:184695505T>C uc010pok.1 - 7 892 c.631A>G c.(631-633)ATC>GTC p.I211V EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.I211V|EDEM3_uc001gqy.2_Missense_Mutation_p.I134V NM_025191 NP_079467 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 211 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding skin(1) 1 GGTTTTCTGATGCCAAACTTT 0.368 11 39 --- --- --- --- PASS LHX9 56956 broad.mit.edu 37 1 197898339 197898339 + Missense_Mutation SNP A T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:197898339A>T uc001guk.1 + 5 1581 c.1144A>T c.(1144-1146)AGC>TGC p.S382C LHX9_uc001gui.1_Missense_Mutation_p.S373C|LHX9_uc001guj.1_Intron NM_020204 NP_064589 Q9NQ69 LHX9_HUMAN LIM homeobox 9 isoform 1 382 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 TAACATGGACAGCCACGAATC 0.428 7 75 --- --- --- --- PASS PTPRC 5788 broad.mit.edu 37 1 198668711 198668711 + Missense_Mutation SNP C G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:198668711C>G uc001gur.1 + 5 491 c.311C>G c.(310-312)ACG>AGG p.T104R PTPRC_uc001gus.1_Missense_Mutation_p.T104R|PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Missense_Mutation_p.T40R|PTPRC_uc009wzf.1_Missense_Mutation_p.T40R|PTPRC_uc010ppg.1_Missense_Mutation_p.T40R|PTPRC_uc001guu.1_Missense_Mutation_p.T147R|PTPRC_uc001guv.1_RNA|PTPRC_uc001guw.1_RNA NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 104 Extracellular (Potential). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 TCAGTACAGACGCCTCACCTT 0.502 OREG0014061 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 96 --- --- --- --- PASS PPP1R15B 84919 broad.mit.edu 37 1 204375323 204375323 + Missense_Mutation SNP T C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:204375323T>C uc001hav.3 - 2 2444 c.2039A>G c.(2038-2040)GAA>GGA p.E680G NM_032833 NP_116222 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 680 regulation of translation ovary(1)|pancreas(1) 2 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) AATAGCATCTTCTGTTTCTTG 0.388 6 58 --- --- --- --- PASS ACBD3 64746 broad.mit.edu 37 1 226334402 226334402 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:226334402G>T uc001hpy.2 - 8 1543 c.1496C>A c.(1495-1497)CCA>CAA p.P499Q NM_022735 NP_073572 Q9H3P7 GCP60_HUMAN acyl-Coenzyme A binding domain containing 3 499 GOLD. steroid biosynthetic process|transport Golgi membrane|integral to membrane|mitochondrion fatty-acyl-CoA binding|protein binding 0 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.121) TCCTCTCCCTGGATATTGATG 0.443 5 97 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237755079 237755079 + Missense_Mutation SNP C T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:237755079C>T uc001hyl.1 + 32 4321 c.4201C>T c.(4201-4203)CAT>TAT p.H1401Y NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1401 Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAGCACAAGCCATTCTGCAAG 0.388 6 30 --- --- --- --- PASS MAP1LC3C 440738 broad.mit.edu 37 1 242161882 242161882 + Missense_Mutation SNP G A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:242161882G>A uc001hzk.2 - 3 230 c.155C>T c.(154-156)CCG>CTG p.P52L NM_001004343 NP_001004343 Q9BXW4 MLP3C_HUMAN microtubule-associated protein 1 light chain 3 52 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(106;0.0188) TTTGTCCAGCGGGGGCAGGAA 0.582 OREG0014354 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 42 --- --- --- --- PASS OR2W5 441932 broad.mit.edu 37 1 247655381 247655381 + Nonsense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:247655381G>T uc001icz.1 + 1 952 c.952G>T c.(952-954)GGA>TGA p.G318* NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, 318 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CTCAACGAGGGGAACACTCTA 0.498 9 36 --- --- --- --- PASS OR6F1 343169 broad.mit.edu 37 1 247875729 247875729 + Missense_Mutation SNP G C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:247875729G>C uc001idj.1 - 1 329 c.329C>G c.(328-330)ACA>AGA p.T110R NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 110 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GAAGTACTCTGTGCAGCCTAA 0.502 4 60 --- --- --- --- PASS OR2T33 391195 broad.mit.edu 37 1 248436338 248436338 + Missense_Mutation SNP G C C rs147622928 TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:248436338G>C uc010pzi.1 - 1 779 c.779C>G c.(778-780)CCC>CGC p.P260R NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 260 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATGGGATTTGGGTCTCATATA 0.478 14 77 --- --- --- --- PASS OR2T1 26696 broad.mit.edu 37 1 248569858 248569858 + Missense_Mutation SNP G T T rs141385938 by1000genomes TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:248569858G>T uc010pzm.1 + 1 563 c.563G>T c.(562-564)CGC>CTC p.R188L NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 188 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTCATGAGCCGCCGGGTCTGT 0.542 11 51 --- --- --- --- PASS OTOF 9381 broad.mit.edu 37 2 26699098 26699098 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr2:26699098G>T uc002rhk.2 - 23 2891 c.2764C>A c.(2764-2766)CGC>AGC p.R922S OTOF_uc010yla.1_5'Flank|OTOF_uc002rhh.2_Missense_Mutation_p.R175S|OTOF_uc002rhi.2_Missense_Mutation_p.R232S|OTOF_uc002rhj.2_Missense_Mutation_p.R175S NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 922 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AACTCCTTGCGCTGTTTGCTG 0.677 3 26 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32726824 32726824 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr2:32726824G>T uc010ezu.2 + 47 9210 c.9076G>T c.(9076-9078)GGG>TGG p.G3026W NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3026 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) CTTTCATGGTGGGTTGGATGC 0.333 18 48 --- --- --- --- PASS THADA 63892 broad.mit.edu 37 2 43732780 43732780 + Missense_Mutation SNP A T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr2:43732780A>T uc002rsw.3 - 24 3954 c.3602T>A c.(3601-3603)ATA>AAA p.I1201K THADA_uc010far.2_Missense_Mutation_p.I470K|THADA_uc002rsx.3_Missense_Mutation_p.I1201K|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.I910K|THADA_uc010fat.1_Missense_Mutation_p.I348K|THADA_uc002rta.2_Missense_Mutation_p.I911K NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 1201 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) TGTACTCTGTATGTCATCTGT 0.328 3 9 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80620402 80620402 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr2:80620402G>T uc010ysh.1 + 7 1128 c.1123G>T c.(1123-1125)GAT>TAT p.D375Y CTNNA2_uc010yse.1_Missense_Mutation_p.D375Y|CTNNA2_uc010ysf.1_Missense_Mutation_p.D375Y|CTNNA2_uc010ysg.1_Missense_Mutation_p.D375Y|CTNNA2_uc010ysi.1_Missense_Mutation_p.D7Y NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 375 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 GAAAACAAGAGATCTAAGGAG 0.333 7 79 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90121879 90121879 + RNA SNP A T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr2:90121879A>T uc010fhm.2 + 16 c.1748A>T Parts of antibodies, mostly variable regions. TCCATCTGCCATGTCTGCATC 0.448 13 263 --- --- --- --- PASS MFSD9 84804 broad.mit.edu 37 2 103343376 103343376 + Missense_Mutation SNP T C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr2:103343376T>C uc002tcb.2 - 4 423 c.355A>G c.(355-357)AGT>GGT p.S119G MFSD9_uc010fja.2_RNA NM_032718 NP_116107 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 119 Helical; (Potential). transmembrane transport integral to membrane|plasma membrane transporter activity ovary(2)|breast(2) 4 CCCAGAGCACTGAGTAGAATG 0.483 7 85 --- --- --- --- PASS ST6GAL2 84620 broad.mit.edu 37 2 107459731 107459731 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr2:107459731C>A uc002tdq.2 - 2 822 c.703G>T c.(703-705)GGG>TGG p.G235W ST6GAL2_uc002tdr.2_Missense_Mutation_p.G235W|ST6GAL2_uc002tds.3_Missense_Mutation_p.G235W NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 235 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 AAGCGCACCCCGTGCTTGTTG 0.677 5 6 --- --- --- --- PASS R3HDM1 23518 broad.mit.edu 37 2 136432940 136432940 + Nonsense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr2:136432940G>T uc002tuo.2 + 19 2456 c.2086G>T c.(2086-2088)GGA>TGA p.G696* R3HDM1_uc010fni.2_Nonsense_Mutation_p.G695*|R3HDM1_uc002tup.2_Nonsense_Mutation_p.G641*|R3HDM1_uc010zbh.1_Nonsense_Mutation_p.G444* NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 696 nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) AAACTACCAAGGAATAGTTGG 0.413 5 68 --- --- --- --- PASS UBXN4 23190 broad.mit.edu 37 2 136537802 136537802 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr2:136537802G>T uc002tur.2 + 12 1546 c.1235G>T c.(1234-1236)TGG>TTG p.W412L UBXN4_uc002tus.2_Missense_Mutation_p.W178L|UBXN4_uc002tut.2_Missense_Mutation_p.W48L NM_014607 NP_055422 Q92575 UBXN4_HUMAN UBX domain containing 2 412 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding skin(2) 2 GGAGACATTTGGACCTTGTTG 0.413 5 64 --- --- --- --- PASS IFIH1 64135 broad.mit.edu 37 2 163174569 163174569 + Silent SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr2:163174569G>T uc002uce.2 - 1 471 c.249C>A c.(247-249)CTC>CTA p.L83L IFIH1_uc002ucf.2_Silent_p.L83L NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 83 CARD 1. detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding ovary(1) 1 CGGTTCTCCGGAGGGCCTCCA 0.592 5 50 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179583529 179583529 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr2:179583529G>T uc010zfg.1 - 81 20890 c.20666C>A c.(20665-20667)ACA>AAA p.T6889K TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T3550K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7816 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) CTCCAGTTCTGTGACAAAATC 0.478 9 72 --- --- --- --- PASS TRAK2 66008 broad.mit.edu 37 2 202245669 202245669 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr2:202245669G>T uc002uyb.3 - 16 2788 c.2342C>A c.(2341-2343)CCA>CAA p.P781Q NM_015049 NP_055864 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 781 Missing (in Ref. 2). early endosome|plasma membrane GABA receptor binding 0 TGAGTGAGATGGTGAATTTGG 0.522 6 94 --- --- --- --- PASS ALS2 57679 broad.mit.edu 37 2 202590178 202590178 + Splice_Site SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr2:202590178C>A uc002uyo.2 - 20 3605 c.3249_splice c.e20-1 p.G1083_splice ALS2_uc002uyp.3_Splice_Site_p.G1083_splice|ALS2_uc010ftl.2_Splice_Site NM_020919 NP_065970 Q96Q42 ALS2_HUMAN alsin isoform 1 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity skin(5)|lung(1)|breast(1) 7 TTCTCCATACCTGCCATGAAA 0.363 5 83 --- --- --- --- PASS DYTN 391475 broad.mit.edu 37 2 207527889 207527889 + Silent SNP C T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr2:207527889C>T uc002vbr.1 - 11 1488 c.1371G>A c.(1369-1371)GAG>GAA p.E457E NM_001093730 NP_001087199 A2CJ06 DYTN_HUMAN dystrotelin 457 plasma membrane zinc ion binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) GCAAAGTGGTCTCTGGTGATT 0.488 5 57 --- --- --- --- PASS C2orf67 151050 broad.mit.edu 37 2 211018789 211018789 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr2:211018789C>A uc002vds.2 - 2 726 c.518G>T c.(517-519)TGG>TTG p.W173L C2orf67_uc002vdt.2_Missense_Mutation_p.W173L|C2orf67_uc002vdw.2_Missense_Mutation_p.W173L|C2orf67_uc002vdy.1_Missense_Mutation_p.W173L|C2orf67_uc002vdv.2_Missense_Mutation_p.W173L|C2orf67_uc002vdx.1_Missense_Mutation_p.W173L NM_152519 NP_689732 A0AUZ9 CB067_HUMAN hypothetical protein LOC151050 173 ovary(3) 3 Renal(323;0.202) Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696) CTCTTGATACCATTTACAGTT 0.338 6 64 --- --- --- --- PASS UGT1A1 54658 broad.mit.edu 37 2 234669706 234669706 + Missense_Mutation SNP G C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr2:234669706G>C uc002vvb.2 + 1 788 c.773G>C c.(772-774)AGT>ACT p.S258T UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.S258T NM_000463 NP_000454 P22309 UD11_HUMAN UDP glycosyltransferase 1 family, polypeptide A1 258 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding central_nervous_system(1)|skin(1) 2 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) CTGTTTAGAAGTGACTTTGTG 0.468 4 68 --- --- --- --- PASS MLPH 79083 broad.mit.edu 37 2 238419719 238419719 + Silent SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr2:238419719C>A uc002vwt.2 + 4 647 c.420C>A c.(418-420)TCC>TCA p.S140S MLPH_uc002vws.2_Silent_p.S140S|MLPH_uc010fyt.1_Silent_p.S140S|MLPH_uc002vwu.2_Silent_p.S140S|MLPH_uc002vwv.2_Silent_p.S140S|MLPH_uc002vww.2_Silent_p.S116S NM_024101 NP_077006 Q9BV36 MELPH_HUMAN melanophilin isoform 1 140 metal ion binding ovary(1) 1 Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203) Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316) TCATCCGGTCCCTCCACGGGC 0.522 7 177 --- --- --- --- PASS CNTN4 152330 broad.mit.edu 37 3 2787299 2787299 + Silent SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr3:2787299C>A uc003bpc.2 + 5 497 c.276C>A c.(274-276)ACC>ACA p.T92T CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Silent_p.T92T NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 92 Ig-like C2-type 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding p.K92N(1) large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) CCAATAAAACCCAAGATGCTG 0.413 5 68 --- --- --- --- PASS IMPG2 50939 broad.mit.edu 37 3 100964871 100964871 + Missense_Mutation SNP C G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr3:100964871C>G uc003duq.1 - 12 1521 c.1318G>C c.(1318-1320)GGT>CGT p.G440R IMPG2_uc011bhe.1_Missense_Mutation_p.G303R NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 440 Extracellular (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 GAGGGAGGACCAGAGCTGAAA 0.493 8 43 --- --- --- --- PASS DZIP3 9666 broad.mit.edu 37 3 108394691 108394691 + Missense_Mutation SNP G A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr3:108394691G>A uc003dxd.2 + 25 3174 c.2752G>A c.(2752-2754)GAT>AAT p.D918N DZIP3_uc003dxf.1_Missense_Mutation_p.D918N|DZIP3_uc011bhm.1_Missense_Mutation_p.D369N NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 918 Potential. protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CATTGTGGCAGATGTTAGAAA 0.363 6 16 --- --- --- --- PASS DPPA4 55211 broad.mit.edu 37 3 109049388 109049388 + Missense_Mutation SNP G A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr3:109049388G>A uc003dxq.3 - 5 717 c.662C>T c.(661-663)TCT>TTT p.S221F DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Missense_Mutation_p.S221F NM_018189 NP_060659 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 221 nucleus protein binding upper_aerodigestive_tract(1) 1 CTCTTGTGGAGATTCCACTGC 0.473 4 36 --- --- --- --- PASS FAM162A 26355 broad.mit.edu 37 3 122128637 122128637 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr3:122128637C>A uc003eez.2 + 5 514 c.424C>A c.(424-426)CGT>AGT p.R142S NM_014367 NP_055182 Q96A26 F162A_HUMAN growth and transformation-dependent protein 142 integral to membrane ovary(1) 1 AAAGAAAGCTCGTCTGAAAGA 0.433 5 107 --- --- --- --- PASS EPHB1 2047 broad.mit.edu 37 3 134851685 134851685 + Missense_Mutation SNP G A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr3:134851685G>A uc003eqt.2 + 5 1311 c.1091G>A c.(1090-1092)CGG>CAG p.R364Q EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 364 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding p.R364L(2) lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 AAAAAGTGCCGGGCAGACCGC 0.602 4 35 --- --- --- --- PASS P2RY13 53829 broad.mit.edu 37 3 151046127 151046127 + Silent SNP A G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr3:151046127A>G uc003eyv.2 - 2 738 c.717T>C c.(715-717)TAT>TAC p.Y239Y MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron NM_176894 NP_795713 Q9BPV8 P2Y13_HUMAN purinergic receptor P2Y, G-protein coupled, 13 239 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(3)|lung(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278) TGGACTTTCTATAAGAATCAT 0.318 5 60 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164905718 164905718 + Silent SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr3:164905718G>T uc003fej.3 - 2 3345 c.2901C>A c.(2899-2901)CTC>CTA p.L967L SLITRK3_uc003fek.2_Silent_p.L967L NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 967 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 CCAGGACTTCGAGGTAATCCG 0.388 HNSCC(40;0.11) 5 145 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164907242 164907242 + Missense_Mutation SNP C G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr3:164907242C>G uc003fej.3 - 2 1821 c.1377G>C c.(1375-1377)AAG>AAC p.K459N SLITRK3_uc003fek.2_Missense_Mutation_p.K459N NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 459 LRR 9.|Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 GGAAGAGGCTCTTTAAGTTGG 0.433 HNSCC(40;0.11) 4 49 --- --- --- --- PASS FNDC3B 64778 broad.mit.edu 37 3 172052809 172052809 + Nonsense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr3:172052809G>T uc003fhy.2 + 15 1889 c.1717G>T c.(1717-1719)GGA>TGA p.G573* FNDC3B_uc003fhz.3_Nonsense_Mutation_p.G573*|FNDC3B_uc003fia.2_Nonsense_Mutation_p.G504* NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 573 Fibronectin type-III 4. endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) TGACAGGCCTGGACCTCCTAC 0.453 7 199 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178921477 178921477 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr3:178921477G>T uc003fjk.2 + 5 1116 c.959G>T c.(958-960)GGA>GTA p.G320V NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 320 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TATATGAATGGAGAAACATCT 0.358 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 5 83 --- --- --- --- PASS MFN1 55669 broad.mit.edu 37 3 179069752 179069752 + Silent SNP A T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr3:179069752A>T uc003fjs.2 + 3 303 c.177A>T c.(175-177)GGA>GGT p.G59G MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Silent_p.G87G NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 59 Cytoplasmic (Potential). mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity ovary(2)|large_intestine(1) 3 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) AAATGCAAGGATATAAAGACA 0.353 35 111 --- --- --- --- PASS PCDH7 5099 broad.mit.edu 37 4 31144376 31144376 + Nonsense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr4:31144376G>T uc011bxx.1 + 3 4657 c.3649G>T c.(3649-3651)GAG>TAG p.E1217* PCDH7_uc011bxw.1_Nonsense_Mutation_p.E1170* NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor Error:Variant_position_missing_in_O60245_after_alignment homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 CAGCAAAAATGAGGAAGCCAA 0.463 6 128 --- --- --- --- PASS CEP135 9662 broad.mit.edu 37 4 56832003 56832003 + Missense_Mutation SNP A T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr4:56832003A>T uc003hbi.2 + 8 1256 c.1022A>T c.(1021-1023)GAT>GTT p.D341V CEP135_uc003hbj.2_Missense_Mutation_p.D47V|CEP135_uc010igz.1_Missense_Mutation_p.D171V NM_025009 NP_079285 Q66GS9 CP135_HUMAN centrosome protein 4 341 Potential. centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 Glioma(25;0.08)|all_neural(26;0.101) GAGACTGCTGATAAAGAGCTT 0.363 9 25 --- --- --- --- PASS AP1AR 55435 broad.mit.edu 37 4 113189328 113189328 + Silent SNP A G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr4:113189328A>G uc003iaj.3 + 10 1025 c.672A>G c.(670-672)GAA>GAG p.E224E AP1AR_uc003iak.3_Silent_p.E191E NM_018569 NP_061039 Q63HQ0 AP1AR_HUMAN adaptor-related protein complex 1 associated 224 protein transport early endosome|Golgi apparatus|late endosome|transport vesicle 0 CAATGAGAGAACGTTCCAAAA 0.363 4 35 --- --- --- --- PASS GUCY1A3 2982 broad.mit.edu 37 4 156632319 156632319 + Silent SNP G T T rs1049509 TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr4:156632319G>T uc003iov.2 + 7 1538 c.1002G>T c.(1000-1002)ACG>ACT p.T334T GUCY1A3_uc003iou.2_Silent_p.T334T|GUCY1A3_uc010iqc.2_Silent_p.T334T|GUCY1A3_uc003iow.2_Silent_p.T334T|GUCY1A3_uc010iqd.2_Silent_p.T333T|GUCY1A3_uc003iox.2_Silent_p.T334T|GUCY1A3_uc003ioz.2_Silent_p.T99T|GUCY1A3_uc003ioy.2_Silent_p.T334T|GUCY1A3_uc010iqe.2_Silent_p.T99T|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Silent_p.T334T NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 334 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) TCAACCAGACGTTTAGCGGGA 0.388 11 62 --- --- --- --- PASS WDR17 116966 broad.mit.edu 37 4 177094441 177094441 + Missense_Mutation SNP A T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr4:177094441A>T uc003iuj.2 + 27 3541 c.3385A>T c.(3385-3387)ACT>TCT p.T1129S WDR17_uc003iuk.2_Missense_Mutation_p.T1105S|WDR17_uc003ium.3_Missense_Mutation_p.T1090S|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.T340S NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 1129 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) CTCAGACTGGACTTTGGATAC 0.318 4 23 --- --- --- --- PASS ODZ3 55714 broad.mit.edu 37 4 183603016 183603016 + Silent SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr4:183603016G>T uc003ivd.1 + 10 1921 c.1884G>T c.(1882-1884)GGG>GGT p.G628G ODZ3_uc003ive.1_Silent_p.G34G NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 628 EGF-like 4.|Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GTATCCACGGGGAATGTCACT 0.448 5 26 --- --- --- --- PASS ODZ3 55714 broad.mit.edu 37 4 183675766 183675766 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr4:183675766C>A uc003ivd.1 + 21 4283 c.4246C>A c.(4246-4248)CTG>ATG p.L1416M ODZ3_uc003ive.1_Missense_Mutation_p.L829M NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1416 Extracellular (Potential).|NHL 4. signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CAGTGGGGTCCTGTACATTAC 0.502 4 35 --- --- --- --- PASS ACSL1 2180 broad.mit.edu 37 4 185687866 185687866 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr4:185687866G>T uc003iww.2 - 13 1467 c.1173C>A c.(1171-1173)GAC>GAA p.D391E ACSL1_uc011ckm.1_Missense_Mutation_p.D220E|ACSL1_uc003iwt.1_Missense_Mutation_p.D391E|ACSL1_uc003iwu.1_Missense_Mutation_p.D391E|ACSL1_uc011ckn.1_Missense_Mutation_p.D357E|ACSL1_uc003iws.1_5'UTR NM_001995 NP_001986 P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 391 Cytoplasmic (Potential). digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity ovary(2) 2 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TGGAGGCAAAGTCCAAGAGCC 0.423 4 76 --- --- --- --- PASS UFSP2 55325 broad.mit.edu 37 4 186343691 186343691 + Silent SNP G C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr4:186343691G>C uc003ixo.2 - 2 147 c.30C>G c.(28-30)CTC>CTG p.L10L UFSP2_uc003ixq.2_5'UTR|UFSP2_uc003ixp.2_RNA NM_018359 NP_060829 Q9NUQ7 UFSP2_HUMAN UFM1-specific peptidase 2 10 endoplasmic reticulum|nucleus small conjugating protein-specific protease activity 0 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166) TTATTCTGAAGAGTATATCCA 0.294 4 32 --- --- --- --- PASS ADAMTS16 170690 broad.mit.edu 37 5 5240017 5240017 + Silent SNP C G G rs72647759 TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr5:5240017C>G uc003jdl.2 + 16 2640 c.2502C>G c.(2500-2502)ACC>ACG p.T834T ADAMTS16_uc003jdk.1_Silent_p.T834T NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 834 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CTGGACCAACCAACGAGACAC 0.507 18 104 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24537668 24537668 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr5:24537668C>A uc003jgr.1 - 3 679 c.347G>T c.(346-348)CGA>CTA p.R116L CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 116 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) CCTATCAATTCGCCTTGTGGC 0.398 HNSCC(23;0.051) 4 87 --- --- --- --- PASS MIR1274A 100302199 broad.mit.edu 37 5 41475802 41475802 + RNA SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr5:41475802C>A hsa-mir-1274a|MI0006410 + c.69C>A PLCXD3_uc003jmm.1_Intron 0 ttgagaccatcactacgacag 0.060 13 124 --- --- --- --- PASS SEC24A 10802 broad.mit.edu 37 5 133996855 133996855 + Silent SNP A G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr5:133996855A>G uc003kzs.2 + 2 432 c.144A>G c.(142-144)CAA>CAG p.Q48Q SEC24A_uc011cxu.1_5'UTR NM_021982 NP_068817 O95486 SC24A_HUMAN SEC24 related gene family, member A 48 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CAGTGAGCCAAGGATACAATT 0.418 42 246 --- --- --- --- PASS PCDHA5 56143 broad.mit.edu 37 5 140202419 140202419 + Silent SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr5:140202419C>A uc003lhl.2 + 1 1059 c.1059C>A c.(1057-1059)ACC>ACA p.T353T 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_Silent_p.T353T|PCDHA5_uc003lhj.1_Silent_p.T353T NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 353 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCATAACCACCCTTTTCCTGC 0.498 5 59 --- --- --- --- PASS PCDHA13 56136 broad.mit.edu 37 5 140262130 140262130 + Nonsense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr5:140262130G>T uc003lif.2 + 1 277 c.277G>T c.(277-279)GAG>TAG p.E93* 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_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Nonsense_Mutation_p.E93*|PCDHA13_uc003lid.2_Nonsense_Mutation_p.E93* NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 93 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATCGACCGCGAGGAGCTGTG 0.587 5 140 --- --- --- --- PASS PCDHAC2 56134 broad.mit.edu 37 5 140347837 140347837 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr5:140347837C>A uc003lii.2 + 1 1726 c.1486C>A c.(1486-1488)CCA>ACA p.P496T 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_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.P496T NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN protocadherin alpha subfamily C, 2 isoform 1 496 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCACAGACCCAGATGAAAA 0.502 16 77 --- --- --- --- PASS PCDHB16 57717 broad.mit.edu 37 5 140564189 140564189 + Silent SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr5:140564189G>T uc003liv.2 + 1 3210 c.2055G>T c.(2053-2055)TCG>TCT p.S685S PCDHB9_uc003liw.1_5'Flank NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 685 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGCCAACTCGCTCACTGTCT 0.692 4 39 --- --- --- --- PASS PCDHB16 57717 broad.mit.edu 37 5 140564195 140564195 + Silent SNP T C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr5:140564195T>C uc003liv.2 + 1 3216 c.2061T>C c.(2059-2061)ACT>ACC p.T687T PCDHB9_uc003liw.1_5'Flank NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 687 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTCGCTCACTGTCTACCTGG 0.692 6 49 --- --- --- --- PASS GRPEL2 134266 broad.mit.edu 37 5 148730657 148730657 + Nonsense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr5:148730657G>T uc003lqj.2 + 4 616 c.490G>T c.(490-492)GAG>TAG p.E164* GRPEL2_uc011dca.1_3'UTR NM_152407 NP_689620 Q8TAA5 GRPE2_HUMAN GrpE-like 2, mitochondrial precursor 164 protein folding mitochondrial matrix adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCATGGCCTGGAGAAACTGAC 0.517 7 151 --- --- --- --- PASS PCYOX1L 78991 broad.mit.edu 37 5 148747746 148747746 + Silent SNP C T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr5:148747746C>T uc003lqk.2 + 6 1076 c.1014C>T c.(1012-1014)CAC>CAT p.H338H PCYOX1L_uc003lql.2_Silent_p.H321H|PCYOX1L_uc010jgz.2_Silent_p.H262H|PCYOX1L_uc003lqm.2_Silent_p.H220H|PCYOX1L_uc003lqn.2_Silent_p.H248H NM_024028 NP_076933 Q8NBM8 PCYXL_HUMAN prenylcysteine oxidase 1 like precursor 338 H -> P (in Ref. 7; BAC03391). prenylcysteine catabolic process extracellular region oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTTGGTCCACGGCTACCTCA 0.552 OREG0016912 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 123 --- --- --- --- PASS PDGFRB 5159 broad.mit.edu 37 5 149511557 149511557 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr5:149511557G>T uc003lro.2 - 8 1697 c.1228C>A c.(1228-1230)CAG>AAG p.Q410K PDGFRB_uc010jhd.2_Missense_Mutation_p.Q249K NM_002609 NP_002600 P09619 PGFRB_HUMAN platelet-derived growth factor receptor beta 410 Extracellular (Potential). aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1) 17 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) ATCTGTAGCTGGAAGGAGAGC 0.423 T ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP MPD|AML|CMML|CML 4 25 --- --- --- --- PASS FABP6 2172 broad.mit.edu 37 5 159640821 159640821 + Missense_Mutation SNP G C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr5:159640821G>C uc003lxx.1 + 3 276 c.130G>C c.(130-132)GGA>CGA p.G44R FABP6_uc003lxz.1_Missense_Mutation_p.G44R NM_001130958 NP_001124430 P51161 FABP6_HUMAN gastrotropin isoform 1 Error:Variant_position_missing_in_P51161_after_alignment bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation cytosol transporter activity 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GACACATAAAGGAAAGGTATG 0.478 9 42 --- --- --- --- PASS OR2J3 442186 broad.mit.edu 37 6 29080293 29080293 + Missense_Mutation SNP T G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr6:29080293T>G uc011dll.1 + 1 626 c.626T>G c.(625-627)TTT>TGT p.F209C NM_001005216 NP_001005216 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, 209 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGCTCCATATTTGTTCTCATA 0.448 5 60 --- --- --- --- PASS MAS1L 116511 broad.mit.edu 37 6 29454983 29454983 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr6:29454983C>A uc011dlq.1 - 1 697 c.697G>T c.(697-699)GCT>TCT p.A233S NM_052967 NP_443199 P35410 MAS1L_HUMAN MAS1 oncogene-like 233 Helical; Name=5; (Potential). cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity ovary(7)|lung(2) 9 GAAAGGATAGCATGGAAGAGC 0.443 5 47 --- --- --- --- PASS LY6G5B 58496 broad.mit.edu 37 6 31638749 31638749 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr6:31638749G>T uc003nvt.1 + 1 22 c.22G>T c.(22-24)GGT>TGT p.G8C CSNK2B_uc003nvs.1_Intron NM_021221 NP_067044 Q8NDX9 LY65B_HUMAN lymphocyte antigen 6 complex G5B precursor 8 extracellular region 0 TATGCTTGTAGGTGTGCTGGT 0.572 6 149 --- --- --- --- PASS COL11A2 1302 broad.mit.edu 37 6 33146896 33146896 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr6:33146896C>A uc003ocx.1 - 16 1793 c.1565G>T c.(1564-1566)AGA>ATA p.R522I COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Missense_Mutation_p.R436I|COL11A2_uc003ocz.1_Missense_Mutation_p.R415I NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 522 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 CTGAGGTCCTCTGGGGCCCTG 0.652 4 16 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51890462 51890462 + Silent SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr6:51890462G>T uc003pah.1 - 32 4422 c.4146C>A c.(4144-4146)CTC>CTA p.L1382L PKHD1_uc003pai.2_Silent_p.L1382L NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1382 IPT/TIG 8; atypical.|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) CAAATTGCTGGAGCACCACAG 0.512 16 66 --- --- --- --- PASS FAM83B 222584 broad.mit.edu 37 6 54735295 54735295 + Missense_Mutation SNP A T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr6:54735295A>T uc003pck.2 + 2 367 c.251A>T c.(250-252)GAT>GTT p.D84V NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 84 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) GATTCCTGTGATGATACCTTA 0.433 5 91 --- --- --- --- PASS PHF3 23469 broad.mit.edu 37 6 64404570 64404570 + Silent SNP C A A rs139681301 TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr6:64404570C>A uc003pep.1 + 5 2622 c.2596C>A c.(2596-2598)CGG>AGG p.R866R PHF3_uc010kaf.1_Silent_p.R866R|PHF3_uc003pem.2_Silent_p.R819R|PHF3_uc010kag.1_Silent_p.R778R|PHF3_uc010kah.1_Silent_p.R680R|PHF3_uc003pen.2_Silent_p.R778R|PHF3_uc011dxs.1_Silent_p.R135R NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 866 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AGTTTTACCTCGGAGATCCTC 0.403 5 188 --- --- --- --- PASS CD109 135228 broad.mit.edu 37 6 74477846 74477846 + Silent SNP A G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr6:74477846A>G uc003php.2 + 14 1991 c.1566A>G c.(1564-1566)GAA>GAG p.E522E CD109_uc010kaz.2_Silent_p.E522E|CD109_uc003phq.2_Silent_p.E522E|CD109_uc010kba.2_Silent_p.E445E NM_133493 NP_598000 Q6YHK3 CD109_HUMAN CD109 antigen isoform 1 precursor 522 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity large_intestine(2)|ovary(2) 4 TAACACCAGAAAATTCTTGGA 0.338 5 54 --- --- --- --- PASS SAMD3 154075 broad.mit.edu 37 6 130505284 130505284 + Missense_Mutation SNP C A A rs41285308 byFrequency TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr6:130505284C>A uc003qbv.2 - 8 944 c.618G>T c.(616-618)CAG>CAT p.Q206H SAMD3_uc003qbx.2_Missense_Mutation_p.Q206H|SAMD3_uc003qbw.2_Missense_Mutation_p.Q206H|SAMD3_uc010kfg.1_Missense_Mutation_p.Q206H|SAMD3_uc003qby.2_Missense_Mutation_p.Q206H|SAMD3_uc003qbz.1_Missense_Mutation_p.Q165H NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 isoform 206 ovary(1) 1 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) AAGGGTGGGCCTGCAGCAGGG 0.473 10 29 --- --- --- --- PASS ENPP3 5169 broad.mit.edu 37 6 132014691 132014691 + Nonsense_Mutation SNP C T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr6:132014691C>T uc003qcu.3 + 16 1686 c.1339C>T c.(1339-1341)CGA>TGA p.R447* ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Nonsense_Mutation_p.R447* NM_005021 NP_005012 O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 447 Extracellular (Potential).|Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity ovary(3)|skin(1) 4 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) TTTGCCAAAGCGACTGCACTA 0.393 10 80 --- --- --- --- PASS SLC35D3 340146 broad.mit.edu 37 6 137245645 137245645 + Silent SNP C T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr6:137245645C>T uc003qhe.2 + 2 1227 c.1062C>T c.(1060-1062)GGC>GGT p.G354G NM_001008783 NP_001008783 Q5M8T2 S35D3_HUMAN solute carrier family 35, member D3 354 carbohydrate transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) CAGCAGGTGGCCCCGCTCAGG 0.652 6 11 --- --- --- --- PASS RAB32 10981 broad.mit.edu 37 6 146870640 146870640 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr6:146870640G>T uc003qln.1 + 2 471 c.291G>T c.(289-291)AAG>AAT p.K97N NM_006834 NP_006825 Q13637 RAB32_HUMAN RAB32, member RAS oncogene family 97 protein transport|small GTPase mediated signal transduction mitochondrion GTP binding 0 Ovarian(120;0.142) OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608) TATACTACAAGGAAGCTGTTG 0.358 5 51 --- --- --- --- PASS PDE10A 10846 broad.mit.edu 37 6 165756886 165756886 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr6:165756886C>A uc003qun.2 - 20 2302 c.2061G>T c.(2059-2061)TGG>TGT p.W687C PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.W617C|PDE10A_uc003quo.2_Missense_Mutation_p.W697C NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 687 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) ATACCTCAGCCCAGAATTCTG 0.368 7 49 --- --- --- --- PASS MLLT4 4301 broad.mit.edu 37 6 168347398 168347398 + Missense_Mutation SNP C T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr6:168347398C>T uc003qwd.2 + 26 3488 c.3346C>T c.(3346-3348)CGT>TGT p.R1116C MLLT4_uc003qwb.1_Missense_Mutation_p.R1101C|MLLT4_uc003qwc.1_Missense_Mutation_p.R1117C|MLLT4_uc003qwg.1_Missense_Mutation_p.R426C NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1117 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) TTCAGATCGTCGTGGCTCAGG 0.393 T MLL AL 9 57 --- --- --- --- PASS GRM3 2913 broad.mit.edu 37 7 86493636 86493636 + Silent SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr7:86493636C>A uc003uid.2 + 6 3704 c.2605C>A c.(2605-2607)CGG>AGG p.R869R GRM3_uc010lef.2_Missense_Mutation_p.A511E|GRM3_uc010leg.2_Silent_p.R741R|GRM3_uc010leh.2_Silent_p.R461R NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 869 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GTGCAATGGGCGGGAAGTCCT 0.433 33 89 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 7 100551669 100551669 + RNA SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr7:100551669C>A uc003uxk.1 + 1 c.920C>A uc003uxl.1_Silent_p.A40A Homo sapiens MUC3B mRNA for intestinal mucin, partial cds. TGACGTCAGCCACTGGGACCC 0.483 86 301 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100686777 100686777 + Missense_Mutation SNP C A A rs138142210 byFrequency TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr7:100686777C>A uc003uxp.1 + 3 12133 c.12080C>A c.(12079-12081)ACG>AAG p.T4027K MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 4027 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TCTGCATCAACGCTTTCTGCA 0.537 29 99 --- --- --- --- PASS CADPS2 93664 broad.mit.edu 37 7 122303469 122303469 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr7:122303469C>A uc010lkp.2 - 3 771 c.608G>T c.(607-609)TGG>TTG p.W203L CADPS2_uc010lkq.2_Missense_Mutation_p.W203L NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 203 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 TTTGGCTATCCATGAGCTCAA 0.413 5 62 --- --- --- --- PASS RNF133 168433 broad.mit.edu 37 7 122338498 122338498 + Nonsense_Mutation SNP T A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr7:122338498T>A uc003vkj.1 - 1 711 c.475A>T c.(475-477)AAA>TAA p.K159* CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron NM_139175 NP_631914 Q8WVZ7 RN133_HUMAN ring finger protein 133 159 PA. endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding skin(1) 1 TCCGTGCCTTTTAAGTTACCA 0.423 14 73 --- --- --- --- PASS PLXNA4 91584 broad.mit.edu 37 7 132193312 132193312 + Silent SNP G C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr7:132193312G>C uc003vra.3 - 2 370 c.141C>G c.(139-141)CCC>CCG p.P47P PLXNA4_uc003vrc.2_Silent_p.P47P|PLXNA4_uc003vrb.2_Silent_p.P47P NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 47 Extracellular (Potential).|Sema. integral to membrane|intracellular|plasma membrane ovary(1) 1 AACCCTCGGCGGGCTCTCCTC 0.587 9 26 --- --- --- --- PASS EXOC4 60412 broad.mit.edu 37 7 133314881 133314881 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr7:133314881C>A uc003vrk.2 + 10 1536 c.1501C>A c.(1501-1503)CAC>AAC p.H501N EXOC4_uc011kpo.1_Missense_Mutation_p.H400N|EXOC4_uc003vrl.2_Missense_Mutation_p.H111N|EXOC4_uc011kpp.1_Missense_Mutation_p.H33N NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 501 vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) CGTCATATTCCACCCATTACT 0.383 5 77 --- --- --- --- PASS OR2A12 346525 broad.mit.edu 37 7 143793122 143793122 + Silent SNP A C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr7:143793122A>C uc011kty.1 + 1 922 c.922A>C c.(922-924)AGA>CGA p.R308R NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, 308 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 Melanoma(164;0.0783) TTGGAAACAGAGATCAATGTG 0.423 6 135 --- --- --- --- PASS CUL1 8454 broad.mit.edu 37 7 148495745 148495745 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr7:148495745G>T uc010lpg.2 + 20 2638 c.2112G>T c.(2110-2112)GAG>GAT p.E704D CUL1_uc003wey.2_Missense_Mutation_p.E704D|CUL1_uc003wez.2_Missense_Mutation_p.E594D|CUL1_uc003wfa.2_Missense_Mutation_p.E365D NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 704 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding lung(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) AAAACATCGAGGAAGACCGCA 0.483 7 179 --- --- --- --- PASS UBE3C 9690 broad.mit.edu 37 7 156974359 156974359 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr7:156974359G>T uc010lqs.2 + 7 1076 c.764G>T c.(763-765)GGT>GTT p.G255V UBE3C_uc003wnf.2_Missense_Mutation_p.G212V|UBE3C_uc003wng.2_Missense_Mutation_p.G255V NM_014671 NP_055486 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 255 protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(2)|large_intestine(1) 5 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) TGTCCGGAAGGTGCGAGGTGA 0.338 8 75 --- --- --- --- PASS SNTG1 54212 broad.mit.edu 37 8 51449319 51449319 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr8:51449319C>A uc010lxy.1 + 12 1002 c.631C>A c.(631-633)CTA>ATA p.L211I SNTG1_uc003xqs.1_Missense_Mutation_p.L211I|SNTG1_uc010lxz.1_Missense_Mutation_p.L211I|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 211 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) ACTGATCCCTCTACTTCATTC 0.483 6 148 --- --- --- --- PASS CPA6 57094 broad.mit.edu 37 8 68423884 68423884 + Silent SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr8:68423884G>T uc003xxq.3 - 4 580 c.324C>A c.(322-324)CTC>CTA p.L108L CPA6_uc003xxr.3_5'UTR|CPA6_uc003xxs.2_Silent_p.L108L NM_020361 NP_065094 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 isoform 1 precursor 108 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) GATCTTCTATGAGGACCCTGA 0.383 6 125 --- --- --- --- PASS PREX2 80243 broad.mit.edu 37 8 69009359 69009359 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr8:69009359G>T uc003xxv.1 + 22 2503 c.2476G>T c.(2476-2478)GAC>TAC p.D826Y PREX2_uc003xxu.1_Missense_Mutation_p.D826Y|PREX2_uc011lez.1_Missense_Mutation_p.D761Y NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 826 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 GTATGAGTACGACAGCACAGC 0.458 12 78 --- --- --- --- PASS SLCO5A1 81796 broad.mit.edu 37 8 70744099 70744099 + Silent SNP C G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr8:70744099C>G uc003xyl.2 - 2 1517 c.810G>C c.(808-810)GCG>GCC p.A270A SLCO5A1_uc010lzb.2_Silent_p.A270A|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.A270A|SLCO5A1_uc010lzc.2_Silent_p.A270A NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 270 Helical; Name=4; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TGAGAATCTGCGCGCAAATGA 0.502 10 66 --- --- --- --- PASS FBXO43 286151 broad.mit.edu 37 8 101153374 101153374 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr8:101153374C>A uc003yjd.2 - 2 1821 c.1108G>T c.(1108-1110)GAC>TAC p.D370Y FBXO43_uc003yje.2_Missense_Mutation_p.D336Y|FBXO43_uc010mbp.1_Missense_Mutation_p.D370Y NM_001029860 NP_001025031 Q4G163 FBX43_HUMAN F-box protein 43 isoform b 370 meiosis zinc ion binding kidney(1)|skin(1) 2 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) CTTATGGTGTCCCCAACTTTG 0.463 20 64 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110453071 110453071 + Silent SNP C T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr8:110453071C>T uc003yne.2 + 33 4193 c.4089C>T c.(4087-4089)ACC>ACT p.T1363T NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1363 Extracellular (Potential).|IPT/TIG 7. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CTGAGAATACCGTGCTGTTAG 0.383 HNSCC(38;0.096) 12 129 --- --- --- --- PASS ZFAT 57623 broad.mit.edu 37 8 135621002 135621002 + Missense_Mutation SNP G A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr8:135621002G>A uc003yup.2 - 5 930 c.755C>T c.(754-756)ACA>ATA p.T252I ZFAT_uc003yun.2_Missense_Mutation_p.T240I|ZFAT_uc003yuo.2_Missense_Mutation_p.T240I|ZFAT_uc010meh.2_Missense_Mutation_p.T240I|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.T240I|ZFAT_uc010mej.2_Missense_Mutation_p.T190I|ZFAT_uc003yur.2_Missense_Mutation_p.T240I NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 252 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) CTCATAAGGTGTCTGCTGAAT 0.512 8 105 --- --- --- --- PASS DENND3 22898 broad.mit.edu 37 8 142178277 142178277 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr8:142178277G>T uc003yvy.2 + 13 1966 c.1688G>T c.(1687-1689)CGA>CTA p.R563L DENND3_uc010mep.2_Missense_Mutation_p.R524L|DENND3_uc003yvz.1_Missense_Mutation_p.R247L NM_014957 NP_055772 A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 563 ovary(1) 1 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) TTGTACCTCCGAGGGCTCGTT 0.532 4 84 --- --- --- --- PASS ELAVL2 1993 broad.mit.edu 37 9 23701384 23701384 + Missense_Mutation SNP G C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr9:23701384G>C uc003zpu.2 - 5 981 c.706C>G c.(706-708)CGT>GGT p.R236G ELAVL2_uc003zps.2_Missense_Mutation_p.R236G|ELAVL2_uc003zpt.2_Missense_Mutation_p.R236G|ELAVL2_uc003zpv.2_Missense_Mutation_p.R236G|ELAVL2_uc003zpw.2_Missense_Mutation_p.R236G NM_004432 NP_004423 Q12926 ELAV2_HUMAN ELAV (embryonic lethal, abnormal vision, 236 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) TACCTAAAACGCTGTGCCTGC 0.458 30 182 --- --- --- --- PASS PRUNE2 158471 broad.mit.edu 37 9 79323950 79323950 + Missense_Mutation SNP G C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr9:79323950G>C uc010mpk.2 - 8 3364 c.3240C>G c.(3238-3240)GAC>GAG p.D1080E NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 1080 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 TGCTGGGGTCGTCGTAACTGG 0.512 18 89 --- --- --- --- PASS HEMGN 55363 broad.mit.edu 37 9 100693232 100693232 + Nonsense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr9:100693232C>A uc004axy.2 - 3 553 c.445G>T c.(445-447)GAG>TAG p.E149* HEMGN_uc004axz.2_Nonsense_Mutation_p.E149* NM_197978 NP_932095 Q9BXL5 HEMGN_HUMAN hemogen 149 cell differentiation|multicellular organismal development ovary(1) 1 Acute lymphoblastic leukemia(62;0.0559) TCTTGGTACTCAGAAAAATTC 0.378 5 93 --- --- --- --- PASS CEP110 11064 broad.mit.edu 37 9 123875857 123875857 + Silent SNP A T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr9:123875857A>T uc004bkx.1 + 8 1231 c.1200A>T c.(1198-1200)ACA>ACT p.T400T CEP110_uc004bkw.2_Silent_p.T400T|CEP110_uc004bky.1_Silent_p.T4T NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN centrosomal protein 110kDa 400 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding 0 TGTTTGCCACAGAGAGTTATA 0.378 13 92 --- --- --- --- PASS CEL 1056 broad.mit.edu 37 9 135941993 135941993 + Silent SNP C T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr9:135941993C>T uc010naa.1 + 5 640 c.624C>T c.(622-624)CCC>CCT p.P208P NM_001807 NP_001798 P19835 CEL_HUMAN carboxyl ester lipase precursor 205 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) GGGGGGACCCCAACAACATCA 0.642 12 65 --- --- --- --- PASS LYZL2 119180 broad.mit.edu 37 10 30915048 30915048 + Missense_Mutation SNP T A A rs143775752 byFrequency TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr10:30915048T>A uc001ivk.2 - 3 435 c.422A>T c.(421-423)CAC>CTC p.H141L NM_183058 NP_898881 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 95 cell wall macromolecule catabolic process extracellular region lysozyme activity 0 Prostate(175;0.151) GCAGGCGACGTGGCAGTGGTT 0.557 6 75 --- --- --- --- PASS ZEB1 6935 broad.mit.edu 37 10 31791294 31791294 + Missense_Mutation SNP A T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr10:31791294A>T uc001ivs.3 + 4 401 c.338A>T c.(337-339)GAG>GTG p.E113V ZEB1_uc001ivr.3_5'UTR|ZEB1_uc010qee.1_5'UTR|ZEB1_uc010qef.1_5'UTR|ZEB1_uc009xlh.1_RNA|ZEB1_uc009xli.1_RNA|ZEB1_uc009xlj.1_Intron|ZEB1_uc010qeg.1_Intron|ZEB1_uc009xlk.1_5'UTR|ZEB1_uc001ivt.3_5'UTR|ZEB1_uc001ivu.3_Missense_Mutation_p.E114V|ZEB1_uc001ivv.3_Missense_Mutation_p.E93V|ZEB1_uc010qeh.1_Missense_Mutation_p.E46V|ZEB1_uc009xll.2_RNA|ZEB1_uc009xlm.1_RNA|ZEB1_uc009xln.1_RNA|ZEB1_uc009xlo.1_Missense_Mutation_p.E96V|ZEB1_uc009xlp.2_Missense_Mutation_p.E97V NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 113 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) GATGAATGCGAGTCAGATGCA 0.338 5 26 --- --- --- --- PASS TMEM72 643236 broad.mit.edu 37 10 45430487 45430487 + Missense_Mutation SNP G A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr10:45430487G>A uc001jbn.2 + 5 930 c.733G>A c.(733-735)GAG>AAG p.E245K uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.E127K NM_001123376 NP_001116848 A0PK05 TMM72_HUMAN transmembrane protein 72 245 integral to membrane 0 TGGGGACAGTGAGCCAGAGGA 0.602 15 56 --- --- --- --- PASS FRMPD2 143162 broad.mit.edu 37 10 49457087 49457087 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr10:49457087C>A uc001jgi.2 - 3 393 c.286G>T c.(286-288)GAT>TAT p.D96Y FRMPD2_uc001jgh.2_Missense_Mutation_p.D87Y|FRMPD2_uc001jgj.2_Missense_Mutation_p.D96Y NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 96 KIND. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) GGCTGCTCATCCTCACTCTGT 0.567 5 39 --- --- --- --- PASS SLC18A3 6572 broad.mit.edu 37 10 50820303 50820303 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr10:50820303G>T uc001jhw.2 + 1 1957 c.1517G>T c.(1516-1518)GGC>GTC p.G506V CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 506 Cytoplasmic (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 CCTGTGTCTGGCCAGGACGGC 0.652 5 29 --- --- --- --- PASS A1CF 29974 broad.mit.edu 37 10 52595861 52595861 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr10:52595861C>A uc001jjj.2 - 6 765 c.577G>T c.(577-579)GCC>TCC p.A193S A1CF_uc010qhn.1_Missense_Mutation_p.A201S|A1CF_uc001jji.2_Missense_Mutation_p.A193S|A1CF_uc001jjh.2_Missense_Mutation_p.A201S|A1CF_uc010qho.1_Missense_Mutation_p.A201S|A1CF_uc009xov.2_Missense_Mutation_p.A193S NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN apobec-1 complementation factor isoform 2 193 RRM 2. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding central_nervous_system(1) 1 CTCGCCATGGCAGCTGCTCGA 0.498 5 63 --- --- --- --- PASS RUFY2 55680 broad.mit.edu 37 10 70161474 70161474 + Missense_Mutation SNP A T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr10:70161474A>T uc001job.2 - 3 631 c.304T>A c.(304-306)TAC>AAC p.Y102N RUFY2_uc001jnz.1_RNA|RUFY2_uc001joc.2_Missense_Mutation_p.Y67N|RUFY2_uc010qiw.1_Missense_Mutation_p.Y9N|RUFY2_uc001jod.1_Missense_Mutation_p.Y67N|RUFY2_uc009xpv.1_5'UTR|RUFY2_uc001joe.1_Missense_Mutation_p.Y67N NM_017987 NP_060457 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain-containing 2 isoform a 116 RUN. nucleus metal ion binding ovary(1) 1 GTTTTGTTGTAACTCAAAAAT 0.373 6 41 --- --- --- --- PASS CBARA1 10367 broad.mit.edu 37 10 74267937 74267937 + Missense_Mutation SNP T C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr10:74267937T>C uc001jtb.1 - 7 767 c.634A>G c.(634-636)ATT>GTT p.I212V CBARA1_uc010qjw.1_5'UTR|CBARA1_uc010qjx.1_Intron|CBARA1_uc009xqo.1_RNA NM_006077 NP_006068 Q9BPX6 MICU1_HUMAN calcium binding atopy-related autoantigen 1 210 calcium ion import|defense response|elevation of mitochondrial calcium ion concentration integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding ovary(1) 1 GTGAGGAAAATGTAGTCTGAA 0.328 3 9 --- --- --- --- PASS RPP30 10556 broad.mit.edu 37 10 92631758 92631758 + Silent SNP A T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr10:92631758A>T uc009xtx.2 + 1 50 c.15A>T c.(13-15)GCA>GCT p.A5A RPP30_uc001khd.2_Silent_p.A5A|RPP30_uc010qnj.1_Silent_p.A5A NM_006413 NP_006404 P78346 RPP30_HUMAN ribonuclease P/MRP 30kDa subunit isoform b 5 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity 0 CGGTGTTTGCAGATTTGGACC 0.652 8 114 --- --- --- --- PASS SORCS1 114815 broad.mit.edu 37 10 108432656 108432656 + Missense_Mutation SNP C G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr10:108432656C>G uc001kym.2 - 15 2036 c.2028G>C c.(2026-2028)GAG>GAC p.E676D SORCS1_uc001kyl.2_Missense_Mutation_p.E676D|SORCS1_uc009xxs.2_Missense_Mutation_p.E676D|SORCS1_uc001kyn.1_Missense_Mutation_p.E676D|SORCS1_uc001kyo.2_Missense_Mutation_p.E676D NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 676 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GTCTGTAGTCCTCTTCGGCAC 0.507 4 30 --- --- --- --- PASS C10orf137 26098 broad.mit.edu 37 10 127418024 127418024 + Missense_Mutation SNP A G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr10:127418024A>G uc001liq.1 + 8 1285 c.992A>G c.(991-993)TAC>TGC p.Y331C C10orf137_uc001lin.2_Missense_Mutation_p.Y297C|C10orf137_uc001lio.1_Missense_Mutation_p.Y297C|C10orf137_uc001lip.1_Missense_Mutation_p.T30A NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 331 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) GGAGGCAGATACCCAGCAGTC 0.398 5 62 --- --- --- --- PASS JAKMIP3 282973 broad.mit.edu 37 10 133978215 133978215 + Silent SNP A G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr10:133978215A>G uc001lkx.3 + 20 2460 c.2460A>G c.(2458-2460)AGA>AGG p.R820R JAKMIP3_uc009yba.1_Silent_p.R257R NM_001105521 NP_001098991 Janus kinase and microtubule interacting protein breast(1) 1 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) CTCAGAAGAGACAAATAAAGG 0.418 11 74 --- --- --- --- PASS OR52E6 390078 broad.mit.edu 37 11 5862634 5862634 + Missense_Mutation SNP A T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr11:5862634A>T uc010qzq.1 - 1 494 c.494T>A c.(493-495)CTC>CAC p.L165H TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, 165 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAACCTTAAGAGGAGAAACAC 0.493 25 128 --- --- --- --- PASS FAM160A2 84067 broad.mit.edu 37 11 6245017 6245017 + Silent SNP T A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr11:6245017T>A uc001mcl.3 - 3 959 c.600A>T c.(598-600)CCA>CCT p.P200P FAM160A2_uc001mck.3_Silent_p.P200P|FAM160A2_uc001mcm.2_Silent_p.P200P NM_001098794 NP_001092264 Q8N612 F16A2_HUMAN hypothetical protein LOC84067 isoform 2 200 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding skin(2) 2 GCTCAGGAGGTGGCTGCAGGA 0.602 14 74 --- --- --- --- PASS WEE1 7465 broad.mit.edu 37 11 9608129 9608129 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr11:9608129C>A uc001mhs.2 + 9 1857 c.1604C>A c.(1603-1605)CCA>CAA p.P535Q WEE1_uc001mht.2_Missense_Mutation_p.P321Q NM_003390 NP_003381 P30291 WEE1_HUMAN WEE1 tyrosine kinase isoform 1 535 Protein kinase. blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle nucleoplasm ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 5 all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484) CCTCGGATACCACAAGTGCTT 0.413 5 83 --- --- --- --- PASS SERGEF 26297 broad.mit.edu 37 11 18014479 18014479 + Silent SNP T G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr11:18014479T>G uc001mnm.2 - 7 764 c.684A>C c.(682-684)ACA>ACC p.T228T SERGEF_uc009yhd.2_RNA|SERGEF_uc001mnn.2_Silent_p.T228T|SERGEF_uc010rcz.1_Silent_p.T114T|SERGEF_uc001mno.1_Silent_p.T114T NM_012139 NP_036271 Q9UGK8 SRGEF_HUMAN deafness locus associated putative guanine 228 RCC1 4. negative regulation of protein secretion|signal transduction cytoplasm|nucleus protein binding|Ran guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 GGTACCTACCTGTTAATGAAG 0.338 8 38 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 11 30928154 30928154 + RNA SNP C G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr11:30928154C>G uc001mss.1 - 8 c.1140G>C uc009yjk.1_Missense_Mutation_p.C794S|uc009yjj.1_RNA Homo sapiens mRNA for KIAA1493 protein, partial cds. GCCTGAAATACAGAGGAATGG 0.463 7 22 --- --- --- --- PASS C11orf41 25758 broad.mit.edu 37 11 33565038 33565038 + Silent SNP C T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr11:33565038C>T uc001mup.3 + 1 1162 c.1038C>T c.(1036-1038)GGC>GGT p.G346G C11orf41_uc001mun.1_Silent_p.G346G NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 346 integral to membrane ovary(2) 2 CATCTCTTGGCTTTTCCAGCA 0.537 OREG0020868 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 113 --- --- --- --- PASS SPRYD5 84767 broad.mit.edu 37 11 55655543 55655543 + Silent SNP T A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr11:55655543T>A uc010rip.1 + 4 635 c.543T>A c.(541-543)GCT>GCA p.A181A SPRYD5_uc010riq.1_Silent_p.A38A NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 181 intracellular zinc ion binding 0 all_epithelial(135;0.226) CAATCAGAGCTGAATATCAGA 0.393 5 28 --- --- --- --- PASS OR5T1 390155 broad.mit.edu 37 11 56043875 56043875 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr11:56043875G>T uc001nio.1 + 1 761 c.761G>T c.(760-762)GGA>GTA p.G254V NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 254 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) TCTACATGTGGAGCTCACCTA 0.438 12 140 --- --- --- --- PASS OR5M10 390167 broad.mit.edu 37 11 56344723 56344723 + Missense_Mutation SNP G C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr11:56344723G>C uc001niz.1 - 1 475 c.475C>G c.(475-477)CAG>GAG p.Q159E NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, 159 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGCAGTGTCTGAGAGAGCCCA 0.468 4 149 --- --- --- --- PASS FAM111B 374393 broad.mit.edu 37 11 58892347 58892347 + Silent SNP A G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr11:58892347A>G uc001nnl.2 + 4 1020 c.777A>G c.(775-777)GTA>GTG p.V259V FAM111B_uc001nnm.2_Silent_p.V229V|FAM111B_uc010rko.1_Silent_p.V229V NM_198947 NP_945185 Q6SJ93 F111B_HUMAN hypothetical protein LOC374393 isoform a 259 catalytic activity ovary(2) 2 TGGATGAAGTATCTGGAAAAG 0.338 7 46 --- --- --- --- PASS PPFIA1 8500 broad.mit.edu 37 11 70118486 70118486 + Nonsense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr11:70118486G>T uc001opo.2 + 2 406 c.208G>T c.(208-210)GAG>TAG p.E70* PPFIA1_uc001opn.1_Nonsense_Mutation_p.E70*|PPFIA1_uc001opp.2_RNA NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 70 Potential. cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) GAAGTTACACGAGGTTGGTCA 0.458 5 99 --- --- --- --- PASS C11orf30 56946 broad.mit.edu 37 11 76171008 76171008 + Silent SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr11:76171008G>T uc001oxl.2 + 6 593 c.450G>T c.(448-450)ACG>ACT p.T150T C11orf30_uc001oxk.2_3'UTR|C11orf30_uc009yuj.1_Silent_p.T165T|C11orf30_uc010rsa.1_Intron|C11orf30_uc001oxm.2_Silent_p.T151T|C11orf30_uc010rsb.1_Silent_p.T165T|C11orf30_uc010rsc.1_Silent_p.T165T|C11orf30_uc001oxn.2_Silent_p.T151T|C11orf30_uc010rsd.1_Silent_p.T164T NM_020193 NP_064578 Q7Z589 EMSY_HUMAN EMSY protein 150 Interaction with BRCA2. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 CAAGTACCACGTCAACCCCAA 0.443 6 106 --- --- --- --- PASS C11orf82 220042 broad.mit.edu 37 11 82644903 82644903 + Silent SNP T C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr11:82644903T>C uc001ozt.2 + 6 2767 c.2523T>C c.(2521-2523)GGT>GGC p.G841G C11orf82_uc010rsr.1_Silent_p.G540G|C11orf82_uc010rss.1_Silent_p.G540G|C11orf82_uc009yvd.2_Intron NM_145018 NP_659455 Q8IXT1 NOXIN_HUMAN nitric oxide-inducible gene protein 841 apoptosis|cell cycle arrest cytoplasm|nucleus ovary(2) 2 TTGTATCTGGTGTTTCACAAC 0.403 6 54 --- --- --- --- PASS CHORDC1 26973 broad.mit.edu 37 11 89935578 89935578 + Missense_Mutation SNP C G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr11:89935578C>G uc001pdg.2 - 11 1404 c.994G>C c.(994-996)GAT>CAT p.D332H CHORDC1_uc009yvz.2_Missense_Mutation_p.D313H NM_012124 NP_036256 Q9UHD1 CHRD1_HUMAN cysteine and histidine-rich domain-containing 332 chaperone-mediated protein folding|regulation of response to stress|response to stress Hsp90 protein binding|identical protein binding 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915) CCCACTCAATCTGTTGTGGCA 0.398 4 28 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92495063 92495063 + Silent SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr11:92495063C>A uc001pdj.3 + 4 3728 c.3711C>A c.(3709-3711)ACC>ACA p.T1237T NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1237 Cadherin 11.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AACAGTCAACCATTTGGGTGG 0.438 TCGA Ovarian(4;0.039) 7 170 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92534954 92534954 + Silent SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr11:92534954G>T uc001pdj.3 + 9 8792 c.8775G>T c.(8773-8775)GCG>GCT p.A2925A NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2925 Cadherin 27.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CAGTCTTCGCGCAGGAAGTGT 0.567 TCGA Ovarian(4;0.039) 4 79 --- --- --- --- PASS GRAMD1B 57476 broad.mit.edu 37 11 123477373 123477373 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr11:123477373G>T uc001pyx.2 + 10 1280 c.951G>T c.(949-951)AAG>AAT p.K317N GRAMD1B_uc001pyw.2_Missense_Mutation_p.K324N|GRAMD1B_uc010rzw.1_Missense_Mutation_p.K277N|GRAMD1B_uc010rzx.1_Missense_Mutation_p.K277N|GRAMD1B_uc009zbe.1_Missense_Mutation_p.K313N|GRAMD1B_uc001pyy.2_5'Flank NM_020716 NP_065767 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 317 integral to membrane ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) CCCTGGAAAAGGAGCTCGCCA 0.562 4 17 --- --- --- --- PASS TMEM225 338661 broad.mit.edu 37 11 123754822 123754822 + Missense_Mutation SNP C T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr11:123754822C>T uc001pzi.2 - 3 631 c.423G>A c.(421-423)ATG>ATA p.M141I NM_001013743 NP_001013765 Q6GV28 TM225_HUMAN transmembrane protein 225 141 Helical; (Potential). integral to membrane upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 3 AAGCAGTATACATGATCCAGG 0.448 6 70 --- --- --- --- PASS OR10G4 390264 broad.mit.edu 37 11 123887173 123887173 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr11:123887173G>T uc010sac.1 + 1 892 c.892G>T c.(892-894)GTG>TTG p.V298L NM_001004462 NP_001004462 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, 298 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GAAGAAAGCTGTGTTGAAACT 0.393 10 52 --- --- --- --- PASS GALNT8 26290 broad.mit.edu 37 12 4874599 4874599 + Missense_Mutation SNP G T T rs144271473 by1000genomes TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr12:4874599G>T uc001qne.1 + 10 1740 c.1648G>T c.(1648-1650)GCC>TCC p.A550S NM_017417 NP_059113 Q9NY28 GALT8_HUMAN polypeptide N-acetylgalactosaminyltransferase 8 550 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(1)|skin(1) 4 GATTGCAGAGGCCAGTGCTAG 0.458 6 41 --- --- --- --- PASS CD163 9332 broad.mit.edu 37 12 7647710 7647710 + Missense_Mutation SNP C T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr12:7647710C>T uc001qsz.3 - 6 1515 c.1387G>A c.(1387-1389)GAT>AAT p.D463N CD163_uc001qta.3_Missense_Mutation_p.D463N|CD163_uc009zfw.2_Missense_Mutation_p.D463N NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 463 SRCR 4.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 TCATAGTGATCACAGGTAAGT 0.398 16 98 --- --- --- --- PASS CMAS 55907 broad.mit.edu 37 12 22218072 22218072 + Nonsense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr12:22218072G>T uc001rfm.2 + 8 1211 c.1132G>T c.(1132-1134)GAA>TAA p.E378* CMAS_uc001rfn.2_RNA NM_018686 NP_061156 Q8NFW8 NEUA_HUMAN cytidine monophospho-N-acetylneuraminic acid 378 lipopolysaccharide biosynthetic process nucleus N-acylneuraminate cytidylyltransferase activity ovary(1)|pancreas(1)|skin(1) 3 AGTGTCTGATGAAGAGTGCTT 0.423 16 113 --- --- --- --- PASS C12orf40 283461 broad.mit.edu 37 12 40114794 40114794 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr12:40114794C>A uc001rmc.2 + 13 1867 c.1700C>A c.(1699-1701)CCA>CAA p.P567Q C12orf40_uc009zjv.1_Intron NM_001031748 NP_001026918 Q86WS4 CL040_HUMAN hypothetical protein LOC283461 567 ovary(6) 6 GATCAGTTTCCACAGTTGCAG 0.388 6 61 --- --- --- --- PASS GXYLT1 283464 broad.mit.edu 37 12 42512879 42512879 + Missense_Mutation SNP C G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr12:42512879C>G uc001rms.3 - 3 634 c.409G>C c.(409-411)GCT>CCT p.A137P GXYLT1_uc001rmt.3_Missense_Mutation_p.A106P NM_173601 NP_775872 Q4G148 GXLT1_HUMAN glycosyltransferase 8 domain containing 3 137 Lumenal (Potential). O-glycan processing integral to membrane UDP-xylosyltransferase activity 0 AAAATGATAGCTGACTTCAAC 0.373 4 66 --- --- --- --- PASS BIN2 51411 broad.mit.edu 37 12 51696919 51696919 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr12:51696919C>A uc001ryg.2 - 3 221 c.169G>T c.(169-171)GGC>TGC p.G57C BIN2_uc009zlz.2_Missense_Mutation_p.G57C|BIN2_uc001ryh.2_Translation_Start_Site|BIN2_uc010sng.1_Missense_Mutation_p.G31C NM_016293 NP_057377 Q9UBW5 BIN2_HUMAN bridging integrator 2 57 BAR. cytoplasm protein binding ovary(1) 1 AGCTTGTGGCCTTCTGCCTGA 0.418 5 44 --- --- --- --- PASS ACVR1B 91 broad.mit.edu 37 12 52380615 52380615 + Missense_Mutation SNP G C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr12:52380615G>C uc001rzn.2 + 7 1192 c.1150G>C c.(1150-1152)GAA>CAA p.E384Q ACVR1B_uc001rzl.2_Missense_Mutation_p.E384Q|ACVR1B_uc001rzm.2_Missense_Mutation_p.E384Q|ACVR1B_uc010snn.1_Missense_Mutation_p.E425Q NM_004302 NP_004293 P36896 ACV1B_HUMAN activin A receptor, type IB isoform a precursor 384 Protein kinase.|Cytoplasmic (Potential). G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1) 9 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) CATGGCCCCTGAAGTACTTGA 0.393 10 67 --- --- --- --- PASS KRT6B 3854 broad.mit.edu 37 12 52841120 52841120 + Missense_Mutation SNP A T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr12:52841120A>T uc001sak.2 - 9 1597 c.1549T>A c.(1549-1551)TAT>AAT p.Y517N NM_005555 NP_005546 P04259 K2C6B_HUMAN keratin 6B 517 Tail. ectoderm development keratin filament structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.083) CCACTGCCATAGGAGTAGCTG 0.632 5 35 --- --- --- --- PASS HOXC5 3222 broad.mit.edu 37 12 54428081 54428081 + Silent SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr12:54428081C>A uc001sew.2 + 2 549 c.474C>A c.(472-474)TCC>TCA p.S158S HOXC5_uc001set.2_RNA|HOXC4_uc001seu.2_Intron NM_018953 NP_061826 Q00444 HXC5_HUMAN homeobox C5 158 Homeobox. regulation of transcription from RNA polymerase II promoter cell junction|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GCAAGCGGTCCCGAACCAGTT 0.597 7 116 --- --- --- --- PASS NCKAP1L 3071 broad.mit.edu 37 12 54925091 54925091 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr12:54925091C>A uc001sgc.3 + 23 2633 c.2554C>A c.(2554-2556)CTG>ATG p.L852M NCKAP1L_uc010sox.1_Missense_Mutation_p.L394M|NCKAP1L_uc010soy.1_Missense_Mutation_p.L802M NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 852 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 CATGAAGTTCCTGAGTGAAAA 0.512 6 146 --- --- --- --- PASS TPH2 121278 broad.mit.edu 37 12 72425388 72425388 + Missense_Mutation SNP T A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr12:72425388T>A uc009zrw.1 + 11 1527 c.1386T>A c.(1384-1386)AGT>AGA p.S462R TPH2_uc001swy.2_Missense_Mutation_p.S372R NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 462 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity ovary(2)|central_nervous_system(1)|skin(1) 4 L-Tryptophan(DB00150) ACACCAGAAGTATTGAAAATG 0.408 14 57 --- --- --- --- PASS C12orf26 84190 broad.mit.edu 37 12 82780723 82780723 + Missense_Mutation SNP G T T rs149436881 TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr12:82780723G>T uc001szq.2 + 2 422 c.401G>T c.(400-402)CGA>CTA p.R134L NM_032230 NP_115606 Q8N6Q8 CL026_HUMAN hypothetical protein LOC84190 134 0 GTAGCCCTTCGAGGAAATCAA 0.373 4 80 --- --- --- --- PASS NT5DC3 51559 broad.mit.edu 37 12 104179133 104179133 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr12:104179133C>A uc010swe.1 - 12 1350 c.1309G>T c.(1309-1311)GGC>TGC p.G437C NM_001031701 NP_001026871 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 437 hydrolase activity|metal ion binding ovary(2)|skin(1) 3 TCCAATAAGCCAGTCAAGGTC 0.408 11 89 --- --- --- --- PASS ALDH1L2 160428 broad.mit.edu 37 12 105420472 105420472 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr12:105420472G>T uc001tlc.2 - 22 2694 c.2567C>A c.(2566-2568)GCC>GAC p.A856D ALDH1L2_uc009zuo.2_Missense_Mutation_p.A311D|ALDH1L2_uc009zup.2_RNA NM_001034173 NP_001029345 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 856 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding skin(1) 1 AACCCCTGAGGCCAAACCATA 0.373 5 89 --- --- --- --- PASS NAA25 80018 broad.mit.edu 37 12 112481017 112481017 + Splice_Site SNP T A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr12:112481017T>A uc001ttm.2 - 19 2271 c.2251_splice c.e19-1 p.Y751_splice NAA25_uc001ttn.3_Splice_Site|NAA25_uc009zvz.1_Splice_Site_p.Y723_splice|NAA25_uc009zwa.1_Splice_Site_p.Y751_splice NM_024953 NP_079229 Q14CX7 NAA25_HUMAN mitochondrial distribution and morphology 20 cytoplasm protein binding ovary(1)|breast(1)|pancreas(1) 3 GAAAGGATACTGGAAAAAAGG 0.358 9 61 --- --- --- --- PASS VSIG10 54621 broad.mit.edu 37 12 118533522 118533522 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr12:118533522G>T uc001tws.2 - 2 511 c.177C>A c.(175-177)AAC>AAA p.N59K NM_019086 NP_061959 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 59 Ig-like C2-type 1.|Extracellular (Potential). integral to membrane 0 GCTCCGAGTTGTTCCGGTACC 0.557 3 32 --- --- --- --- PASS C12orf43 64897 broad.mit.edu 37 12 121448635 121448635 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr12:121448635C>A uc001tzh.1 - 3 306 c.283G>T c.(283-285)GAC>TAC p.D95Y C12orf43_uc009zxa.1_Missense_Mutation_p.D126Y|C12orf43_uc010szo.1_Missense_Mutation_p.D53Y|C12orf43_uc010szp.1_Missense_Mutation_p.D95Y|C12orf43_uc001tzi.1_Missense_Mutation_p.D95Y NM_022895 NP_075046 Q96C57 CL043_HUMAN hypothetical protein LOC64897 95 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GTTTACCTGTCCAGCAGGGCT 0.393 5 42 --- --- --- --- PASS C12orf43 64897 broad.mit.edu 37 12 121448636 121448636 + Silent SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr12:121448636C>A uc001tzh.1 - 3 305 c.282G>T c.(280-282)CTG>CTT p.L94L C12orf43_uc009zxa.1_Silent_p.L125L|C12orf43_uc010szo.1_Silent_p.L52L|C12orf43_uc010szp.1_Silent_p.L94L|C12orf43_uc001tzi.1_Silent_p.L94L NM_022895 NP_075046 Q96C57 CL043_HUMAN hypothetical protein LOC64897 94 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TTTACCTGTCCAGCAGGGCTC 0.398 6 41 --- --- --- --- PASS NBEA 26960 broad.mit.edu 37 13 35770415 35770415 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr13:35770415C>A uc001uvb.2 + 31 5548 c.5342C>A c.(5341-5343)CCT>CAT p.P1781H NBEA_uc010abi.2_Missense_Mutation_p.P437H NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 1781 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GCTATTCTTCCTATGCAGTTT 0.368 5 59 --- --- --- --- PASS PSMC6 5706 broad.mit.edu 37 14 53185722 53185722 + Missense_Mutation SNP C T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr14:53185722C>T uc010tqx.1 + 10 785 c.785C>T c.(784-786)TCA>TTA p.S262L PSMC6_uc001wzy.2_5'Flank NM_002806 NP_002797 P62333 PRS10_HUMAN proteasome 26S ATPase subunit 6 248 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding, bridging lung(1) 1 Breast(41;0.176) GAGGGTACTTCAGCTGACAGA 0.348 5 71 --- --- --- --- PASS PLEK2 26499 broad.mit.edu 37 14 67854081 67854081 + Missense_Mutation SNP C T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr14:67854081C>T uc001xjh.1 - 9 1079 c.1027G>A c.(1027-1029)GCC>ACC p.A343T NM_016445 NP_057529 Q9NYT0 PLEK2_HUMAN pleckstrin 2 343 PH 2. actin cytoskeleton organization|intracellular signal transduction cytoplasm|cytoskeleton|lamellipodium membrane ovary(1)|pancreas(1) 2 all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953) ATCCACTCGGCTCGCTCAGCC 0.488 5 79 --- --- --- --- PASS RBM25 58517 broad.mit.edu 37 14 73577735 73577735 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr14:73577735G>T uc001xno.2 + 15 2097 c.1889G>T c.(1888-1890)AGT>ATT p.S630I RBM25_uc010ttu.1_Missense_Mutation_p.S630I|RBM25_uc001xnp.2_Missense_Mutation_p.S425I NM_021239 NP_067062 P49756 RBM25_HUMAN RNA binding motif protein 25 630 Necessary for nuclear speckle localization. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding central_nervous_system(2)|ovary(1)|breast(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) TCCTCTGCCAGTGGCAATGCA 0.483 4 30 --- --- --- --- PASS YLPM1 56252 broad.mit.edu 37 14 75269258 75269258 + Splice_Site SNP G A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr14:75269258G>A uc001xqj.3 + 6 4525 c.4401_splice c.e6-1 p.R1467_splice YLPM1_uc001xql.3_Splice_Site NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) TTTGTTTGCAGGGAACAGAAA 0.358 4 67 --- --- --- --- PASS KIAA1737 85457 broad.mit.edu 37 14 77579782 77579782 + Silent SNP C G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr14:77579782C>G uc001xtd.2 + 4 500 c.321C>G c.(319-321)TCC>TCG p.S107S KIAA1737_uc001xtc.1_Silent_p.S9S NM_033426 NP_219494 Q9C0C6 K1737_HUMAN KIAA1737 protein 107 Poly-Ser. 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0284) GCAGCTCATCCCAGCTCCAGT 0.517 5 55 --- --- --- --- PASS DLK1 8788 broad.mit.edu 37 14 101200491 101200491 + Missense_Mutation SNP C T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr14:101200491C>T uc001yhs.3 + 5 563 c.410C>T c.(409-411)CCC>CTC p.P137L DLK1_uc001yhu.3_Missense_Mutation_p.P137L NM_003836 NP_003827 P80370 DLK1_HUMAN delta-like 1 homolog precursor 137 Extracellular (Potential).|EGF-like 4. multicellular organismal development extracellular space|integral to membrane|soluble fraction ovary(2)|breast(1)|skin(1) 4 Melanoma(154;0.155) TGCAGCTCCCCCTGCCAGCAC 0.647 4 24 --- --- --- --- PASS MIR493 574450 broad.mit.edu 37 14 101335439 101335439 + RNA SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr14:101335439G>T hsa-mir-493|MI0003132 + c.43G>T 0 tcattcattcgtttgcacatt 0.428 8 55 --- --- --- --- PASS RTL1 388015 broad.mit.edu 37 14 101348215 101348215 + Missense_Mutation SNP C T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr14:101348215C>T uc010txj.1 - 1 2970 c.2911G>A c.(2911-2913)GTC>ATC p.V971I MIR433_hsa-mir-433|MI0001723_5'Flank|uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank NM_001134888 NP_001128360 A6NKG5 RTL1_HUMAN retrotransposon-like 1 971 pancreas(1) 1 AAGAAGAAGACCCAATGCCCG 0.557 14 120 --- --- --- --- PASS AKT1 207 broad.mit.edu 37 14 105246551 105246551 + Missense_Mutation SNP C T T rs34409589 TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr14:105246551C>T uc001ypk.2 - 3 603 c.49G>A c.(49-51)GAG>AAG p.E17K INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Missense_Mutation_p.E17K|AKT1_uc010axa.2_Missense_Mutation_p.E17K|AKT1_uc001ypm.2_Missense_Mutation_p.E17K|AKT1_uc001ypn.2_Missense_Mutation_p.E17K|AKT1_uc010tyk.1_5'Flank NM_005163 NP_005154 P31749 AKT1_HUMAN AKT1 kinase 17 PH. E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane). E->K: Increase in basal ubiquitination, phosphorylation at T-308 and important increase in membrane recruitment. Decrease in ubiquitination, phosphorylation at T-308 as well as impaired association with the membrane; when associated with R-8. activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity p.E17K(126) breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1) 134 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) TTGATGTACTCCCCTACAGAC 0.612 E17K(KU1919_URINARY_TRACT) 1 Mis breast|colorectal|ovarian|NSCLC 4 21 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106641592 106641592 + RNA SNP C G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr14:106641592C>G uc010tyt.1 - 1021 c.24409G>C Parts of antibodies, mostly variable regions. 0 GCCGTGTCGTCAGATCTCAGG 0.532 6 188 --- --- --- --- PASS OR4M2 390538 broad.mit.edu 37 15 22368589 22368589 + Missense_Mutation SNP A C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr15:22368589A>C uc010tzu.1 + 1 14 c.14A>C c.(13-15)AAT>ACT p.N5T LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 5 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GAAACTGCAAATTACACCAAG 0.328 5 132 --- --- --- --- PASS OR4N4 283694 broad.mit.edu 37 15 22382889 22382889 + Missense_Mutation SNP A T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr15:22382889A>T uc001yuc.1 + 7 1398 c.417A>T c.(415-417)AGA>AGT p.R139S LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.R139S NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 139 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TGAACCCTAGAGCCTGCTATG 0.542 6 81 --- --- --- --- PASS GABRB3 2562 broad.mit.edu 37 15 26866631 26866631 + Silent SNP G C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr15:26866631G>C uc001zaz.2 - 4 433 c.291C>G c.(289-291)CTC>CTG p.L97L GABRB3_uc010uae.1_Silent_p.L12L|GABRB3_uc001zba.2_Silent_p.L97L|GABRB3_uc001zbb.2_Silent_p.L153L|GABRB3_uc001zbc.2_RNA NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 97 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CAGAATAGGCGAGCCTTTTAT 0.428 3 32 --- --- --- --- PASS OCA2 4948 broad.mit.edu 37 15 28235745 28235745 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr15:28235745C>A uc001zbh.3 - 10 1203 c.1093G>T c.(1093-1095)GCA>TCA p.A365S OCA2_uc010ayv.2_Intron NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 365 Helical; (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) GCCAGTGCTGCCAGTGCTGCA 0.537 Oculocutaneous_Albinism 11 110 --- --- --- --- PASS C15orf55 256646 broad.mit.edu 37 15 34648683 34648683 + Missense_Mutation SNP T A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr15:34648683T>A uc001zif.2 + 7 2545 c.2390T>A c.(2389-2391)CTA>CAA p.L797Q C15orf55_uc010ucc.1_Missense_Mutation_p.L825Q|C15orf55_uc010ucd.1_Missense_Mutation_p.L815Q NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 797 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) GCAGCTGCCCTAGAAAAGAGA 0.542 T BRD3|BRD4 lethal midline carcinoma 9 43 --- --- --- --- PASS PLA2G4D 283748 broad.mit.edu 37 15 42378498 42378498 + Silent SNP C T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr15:42378498C>T uc001zox.2 - 4 395 c.300G>A c.(298-300)GAG>GAA p.E100E NM_178034 NP_828848 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD 100 C2. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity large_intestine(1)|skin(1) 2 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) AGATGTCATCCTCCGTGACTG 0.512 10 40 --- --- --- --- PASS ANKDD1A 348094 broad.mit.edu 37 15 65219162 65219162 + Silent SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr15:65219162C>A uc002aoa.2 + 6 563 c.534C>A c.(532-534)CTC>CTA p.L178L ANKDD1A_uc002anx.1_Silent_p.L174L|ANKDD1A_uc002any.2_Silent_p.L87L|ANKDD1A_uc002anz.2_Silent_p.L87L|ANKDD1A_uc002aob.2_Intron|ANKDD1A_uc002aoc.2_RNA|ANKDD1A_uc010bha.2_Silent_p.L87L NM_182703 NP_874362 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 178 ANK 5. signal transduction ovary(1) 1 TGGACTTCCTCGTGGGCTCTG 0.612 4 60 --- --- --- --- PASS TSPAN3 10099 broad.mit.edu 37 15 77348510 77348510 + Missense_Mutation SNP G C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr15:77348510G>C uc002bcj.2 - 2 368 c.151C>G c.(151-153)CTC>GTC p.L51V TSPAN3_uc002bck.2_Missense_Mutation_p.L51V|TSPAN3_uc010ump.1_Intron|TSPAN3_uc010bkx.2_Intron NM_005724 NP_005715 O60637 TSN3_HUMAN transmembrane 4 superfamily member 8 isoform 1 51 Helical; (Potential). integral to membrane 0 all cancers(203;1.14e-19) GCAGGGATGAGCGTGTACACA 0.478 7 123 --- --- --- --- PASS TSPAN3 10099 broad.mit.edu 37 15 77348511 77348511 + Silent SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr15:77348511C>A uc002bcj.2 - 2 367 c.150G>T c.(148-150)ACG>ACT p.T50T TSPAN3_uc002bck.2_Silent_p.T50T|TSPAN3_uc010ump.1_Intron|TSPAN3_uc010bkx.2_Intron NM_005724 NP_005715 O60637 TSN3_HUMAN transmembrane 4 superfamily member 8 isoform 1 50 Extracellular (Potential). integral to membrane 0 all cancers(203;1.14e-19) CAGGGATGAGCGTGTACACAT 0.473 7 123 --- --- --- --- PASS SLC28A1 9154 broad.mit.edu 37 15 85438170 85438170 + Splice_Site SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr15:85438170G>T uc002blg.2 + 6 480 c.278_splice c.e6-1 p.G93_splice SLC28A1_uc010upd.1_Splice_Site_p.G15_splice|SLC28A1_uc010bnb.2_Splice_Site_p.G93_splice|SLC28A1_uc010upe.1_Splice_Site_p.G93_splice|SLC28A1_uc010upf.1_Splice_Site_p.G93_splice|SLC28A1_uc010upg.1_Splice_Site_p.G93_splice|SLC28A1_uc002blf.2_Splice_Site_p.G93_splice NM_004213 NP_004204 O00337 S28A1_HUMAN solute carrier family 28, member 1 isoform 1 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(143;0.0587) TCATCCCCCAGGGCTCTCTGC 0.647 18 41 --- --- --- --- PASS PAQR4 124222 broad.mit.edu 37 16 3021766 3021766 + Silent SNP G A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr16:3021766G>A uc002csj.3 + 3 973 c.639G>A c.(637-639)GCG>GCA p.A213A PAQR4_uc002csk.3_Silent_p.A174A|PAQR4_uc002csl.3_Silent_p.A139A|PAQR4_uc010uwm.1_Silent_p.A144A NM_152341 NP_689554 Q8N4S7 PAQR4_HUMAN progestin and adipoQ receptor family member IV 213 integral to membrane receptor activity 0 ACGCACTGGCGCTGCTTGGGG 0.657 5 29 --- --- --- --- PASS CREBBP 1387 broad.mit.edu 37 16 3832794 3832794 + Silent SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr16:3832794G>T uc002cvv.2 - 6 1668 c.1464C>A c.(1462-1464)CTC>CTA p.L488L CREBBP_uc002cvw.2_Silent_p.L450L NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 488 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) AGGGGAGTCCGAGAGCAGCAT 0.557 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 4 51 --- --- --- --- PASS GP2 2813 broad.mit.edu 37 16 20329643 20329643 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr16:20329643C>A uc002dgv.2 - 8 1209 c.1126G>T c.(1126-1128)GTT>TTT p.V376F GP2_uc002dgw.2_Missense_Mutation_p.V373F|GP2_uc002dgx.2_Missense_Mutation_p.V229F|GP2_uc002dgy.2_Missense_Mutation_p.V226F NM_001007240 NP_001007241 P55259 GP2_HUMAN zymogen granule membrane glycoprotein 2 isoform 376 ZP. anchored to membrane|extracellular region|plasma membrane ovary(3)|skin(1) 4 ACGGACTCAACAGACAGTTCA 0.527 23 128 --- --- --- --- PASS ACSM1 116285 broad.mit.edu 37 16 20682918 20682918 + Silent SNP G A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr16:20682918G>A uc002dhm.1 - 4 755 c.687C>T c.(685-687)ACC>ACT p.T229T ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Silent_p.T229T NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 229 ATP (By similarity). benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|skin(1) 2 GGAAGCCTGTGGTCCCACTGG 0.532 9 47 --- --- --- --- PASS KIAA0556 23247 broad.mit.edu 37 16 27789275 27789275 + Missense_Mutation SNP A C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr16:27789275A>C uc002dow.2 + 27 4810 c.4786A>C c.(4786-4788)AGC>CGC p.S1596R KIAA0556_uc010vco.1_Missense_Mutation_p.S98R NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 1596 ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 ACGGAAGCAGAGCGTTGTTGA 0.512 8 66 --- --- --- --- PASS MYLK3 91807 broad.mit.edu 37 16 46782053 46782053 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr16:46782053C>A uc002eei.3 - 1 169 c.53G>T c.(52-54)GGC>GTC p.G18V MYLK3_uc010vge.1_Intron NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 18 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 7 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GCAGGTCTTGCCCAACCCTGG 0.562 11 38 --- --- --- --- PASS DPEP3 64180 broad.mit.edu 37 16 68010022 68010022 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr16:68010022G>T uc002evc.3 - 9 1373 c.1279C>A c.(1279-1281)CTG>ATG p.L427M DPEP3_uc010cex.2_Missense_Mutation_p.L426M NM_022357 NP_071752 Q9H4B8 DPEP3_HUMAN dipeptidase 3 isoform a 402 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(3) 3 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) AAGACCCGCAGCAGGTTTCCA 0.562 29 187 --- --- --- --- PASS ADAT1 23536 broad.mit.edu 37 16 75634194 75634194 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr16:75634194G>T uc002feo.1 - 11 1531 c.1429C>A c.(1429-1431)CAG>AAG p.Q477K ADAT1_uc002fep.1_Missense_Mutation_p.Q328K NM_012091 NP_036223 Q9BUB4 ADAT1_HUMAN adenosine deaminase, tRNA-specific 1 477 A to I editase. tRNA processing metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity ovary(1)|skin(1) 2 CAGGCTTCCTGGTAAGAGGAC 0.512 5 70 --- --- --- --- PASS TUSC5 286753 broad.mit.edu 37 17 1183600 1183600 + Missense_Mutation SNP G C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr17:1183600G>C uc002fsi.1 + 1 644 c.305G>C c.(304-306)AGA>ACA p.R102T NM_172367 NP_758955 Q8IXB3 TUSC5_HUMAN LOST1 102 response to biotic stimulus integral to membrane skin(2) 2 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GAAGCCCCCAGAGATTACCTC 0.627 6 31 --- --- --- --- PASS SERPINF2 5345 broad.mit.edu 37 17 1657687 1657687 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr17:1657687G>T uc002ftk.1 + 10 1412 c.1335G>T c.(1333-1335)AAG>AAT p.K445N SERPINF2_uc010vqr.1_Missense_Mutation_p.K381N NM_000934 NP_000925 P08697 A2AP_HUMAN alpha-2-antiplasmin isoform a precursor 445 acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) Streptokinase(DB00086) GGGAGCTCAAGGAACAGCAGG 0.607 6 69 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578271 7578271 + Missense_Mutation SNP T C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr17:7578271T>C uc002gim.2 - 6 772 c.578A>G c.(577-579)CAT>CGT p.H193R TP53_uc002gig.1_Missense_Mutation_p.H193R|TP53_uc002gih.2_Missense_Mutation_p.H193R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H61R|TP53_uc010cng.1_Missense_Mutation_p.H61R|TP53_uc002gii.1_Missense_Mutation_p.H61R|TP53_uc010cnh.1_Missense_Mutation_p.H193R|TP53_uc010cni.1_Missense_Mutation_p.H193R|TP53_uc002gij.2_Missense_Mutation_p.H193R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100R|TP53_uc002gio.2_Missense_Mutation_p.H61R|TP53_uc010vug.1_Missense_Mutation_p.H154R NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 193 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). H -> D (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (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.H193R(67)|p.H193L(31)|p.H193Y(26)|p.H193P(12)|p.0?(7)|p.H193D(7)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.H193H(2)|p.P191fs*53(2)|p.K164_P219del(1)|p.P191fs*15(1)|p.P191fs*6(1)|p.H100L(1)|p.H61L(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.A189fs*53(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) TCGGATAAGATGCTGAGGAGG 0.562 111 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) 5 16 --- --- --- --- PASS MYH13 8735 broad.mit.edu 37 17 10216043 10216043 + Nonsense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr17:10216043C>A uc002gmk.1 - 31 4303 c.4213G>T c.(4213-4215)GAG>TAG p.E1405* NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1405 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 GTGTTCTCCTCTGCTTCCTGG 0.517 7 21 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10443358 10443358 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr17:10443358G>T uc010coi.2 - 12 1162 c.1034C>A c.(1033-1035)ACT>AAT p.T345N uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.T345N|MYH2_uc010coj.2_Missense_Mutation_p.T345N NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 345 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(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TTCTTCATTAGTAAAGCCCAA 0.418 16 79 --- --- --- --- PASS TEKT3 64518 broad.mit.edu 37 17 15207316 15207316 + Missense_Mutation SNP C G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr17:15207316C>G uc002gon.2 - 9 1597 c.1410G>C c.(1408-1410)CAG>CAC p.Q470H NM_031898 NP_114104 Q9BXF9 TEKT3_HUMAN tektin 3 470 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) TGCATTTTTCCTGGTCGATGT 0.562 8 34 --- --- --- --- PASS ATAD5 79915 broad.mit.edu 37 17 29162429 29162429 + Nonsense_Mutation SNP A T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr17:29162429A>T uc002hfs.1 + 2 1676 c.1330A>T c.(1330-1332)AAA>TAA p.K444* ATAD5_uc002hft.1_Nonsense_Mutation_p.K341* NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 444 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) TGATAATTCTAAAAAAATCAT 0.294 9 27 --- --- --- --- PASS FZD2 2535 broad.mit.edu 37 17 42636019 42636019 + Silent SNP C T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr17:42636019C>T uc002igx.1 + 1 1095 c.963C>T c.(961-963)GGC>GGT p.G321G NM_001466 NP_001457 Q14332 FZD2_HUMAN frizzled 2 precursor 321 Extracellular (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding ovary(2)|lung(1) 3 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) TGGTGCAGGGCACCAAGAAGG 0.617 14 30 --- --- --- --- PASS HOXB2 3212 broad.mit.edu 37 17 46622226 46622226 + Silent SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr17:46622226C>A uc002inm.2 - 1 168 c.48G>T c.(46-48)CCG>CCT p.P16P NM_002145 NP_002136 P14652 HXB2_HUMAN homeobox B2 16 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CGGCGAGCGACGGCTGGCTGT 0.527 11 32 --- --- --- --- PASS BPTF 2186 broad.mit.edu 37 17 65871037 65871037 + Missense_Mutation SNP G C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr17:65871037G>C uc002jgf.2 + 4 1826 c.1765G>C c.(1765-1767)GAT>CAT p.D589H BPTF_uc002jge.2_Missense_Mutation_p.D589H|BPTF_uc010wqm.1_Missense_Mutation_p.D589H NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TGACTCTAAAGATGCTGAGAA 0.388 5 184 --- --- --- --- PASS TNRC6C 57690 broad.mit.edu 37 17 76099517 76099517 + Missense_Mutation SNP C T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr17:76099517C>T uc002jud.2 + 20 5195 c.4595C>T c.(4594-4596)ACA>ATA p.T1532I TNRC6C_uc002juf.2_Missense_Mutation_p.T1568I NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C isoform 2 1532 Sufficient for translational repression when tethered to a target mRNA. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) ACACTGCGGACATTGTGTTTG 0.473 10 34 --- --- --- --- PASS ARHGAP28 79822 broad.mit.edu 37 18 6873571 6873571 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr18:6873571G>T uc010wzi.1 + 7 825 c.587G>T c.(586-588)CGA>CTA p.R196L ARHGAP28_uc002knc.2_Missense_Mutation_p.R321L|ARHGAP28_uc002knd.2_Missense_Mutation_p.R214L|ARHGAP28_uc002kne.2_Missense_Mutation_p.R214L|ARHGAP28_uc002knf.2_Missense_Mutation_p.R205L B4DXL2 B4DXL2_HUMAN SubName: Full=Putative uncharacterized protein ARHGAP28; 196 signal transduction intracellular pancreas(1) 1 Colorectal(10;0.168) GTAAAAGGACGAGGTAACTAA 0.358 6 94 --- --- --- --- PASS PPP4R1 9989 broad.mit.edu 37 18 9557344 9557344 + Nonsense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr18:9557344C>A uc002koe.1 - 15 2183 c.2065G>T c.(2065-2067)GAG>TAG p.E689* PPP4R1_uc002kof.2_Nonsense_Mutation_p.E106*|PPP4R1_uc010wzo.1_Nonsense_Mutation_p.E535*|PPP4R1_uc002kod.1_Nonsense_Mutation_p.E672* NM_001042388 NP_001035847 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 689 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity skin(1) 1 ACTGCAAGCTCGTGGATGGAG 0.398 4 118 --- --- --- --- PASS ASXL3 80816 broad.mit.edu 37 18 31323945 31323945 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr18:31323945G>T uc010dmg.1 + 12 4188 c.4133G>T c.(4132-4134)GGG>GTG p.G1378V ASXL3_uc002kxq.2_Missense_Mutation_p.G1085V NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1378 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 GCCATACCTGGGAGTGAAGAA 0.502 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 103 --- --- --- --- PASS GALNT1 2589 broad.mit.edu 37 18 33283583 33283583 + Silent SNP C T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr18:33283583C>T uc010dmu.2 + 11 1562 c.1509C>T c.(1507-1509)AAC>AAT p.N503N GALNT1_uc002kyz.3_Silent_p.N443N|GALNT1_uc002kzb.2_Silent_p.N503N NM_020474 NP_065207 Q10472 GALT1_HUMAN polypeptide N-acetylgalactosaminyltransferase 1 503 Lumenal (Potential).|Ricin B-type lectin. protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 TAAAAGGCAACCAACTCTGGG 0.373 7 70 --- --- --- --- PASS C18orf32 497661 broad.mit.edu 37 18 47010053 47010053 + Silent SNP T C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr18:47010053T>C uc002ldk.1 - 2 278 c.66A>G c.(64-66)CCA>CCG p.P22P C18orf32_uc002ldl.2_Silent_p.P22P|C18orf32_uc002ldm.1_Missense_Mutation_p.H199R NM_001035005 NP_001030177 Q8TCD1 CR032_HUMAN hypothetical protein LOC497661 22 positive regulation of I-kappaB kinase/NF-kappaB cascade signal transducer activity 0 GGTATATATATGGCTCCAGGA 0.398 10 83 --- --- --- --- PASS SERPINB4 6318 broad.mit.edu 37 18 61328424 61328424 + Silent SNP G A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr18:61328424G>A uc002ljg.2 - 1 53 c.27C>T c.(25-27)ACC>ACT p.T9T SERPINB3_uc002lji.2_Silent_p.T9T|SERPINB3_uc010dqa.2_Silent_p.T9T|SERPINB3_uc010dqb.2_Silent_p.T9T|SERPINB3_uc010dqc.2_Silent_p.T9T P48594 SPB4_HUMAN SubName: Full=Squamous cell carcinoma antigen 2; 9 immune response|regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(2)|lung(1) 3 ACATGAACTTGGTGTTGGCTT 0.413 14 115 --- --- --- --- PASS MYO1F 4542 broad.mit.edu 37 19 8609217 8609217 + Nonsense_Mutation SNP C T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr19:8609217C>T uc002mkg.2 - 14 1602 c.1488G>A c.(1486-1488)TGG>TGA p.W496* NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 496 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 AGCCGGCGCTCCAGCTGTTGA 0.677 4 15 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9074998 9074998 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr19:9074998G>T uc002mkp.2 - 3 12652 c.12448C>A c.(12448-12450)CCT>ACT p.P4150T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4152 Thr-rich.|Extracellular (Potential).|Ser-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ACAGAGGGAGGGCTTGGCTGT 0.502 13 74 --- --- --- --- PASS ZNF442 79973 broad.mit.edu 37 19 12460784 12460784 + Missense_Mutation SNP T G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr19:12460784T>G uc002mtr.1 - 6 2226 c.1615A>C c.(1615-1617)ACT>CCT p.T539P ZNF442_uc010xmk.1_Missense_Mutation_p.T470P NM_030824 NP_110451 Q9H7R0 ZN442_HUMAN zinc finger protein 442 539 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|breast(1)|kidney(1) 4 TTCTCTCCAGTGTGAATCCTT 0.383 9 59 --- --- --- --- PASS PDE4C 5143 broad.mit.edu 37 19 18321932 18321932 + Missense_Mutation SNP T C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr19:18321932T>C uc010xqc.1 - 15 2426 c.1946A>G c.(1945-1947)GAG>GGG p.E649G PDE4C_uc002nik.3_Missense_Mutation_p.E649G|PDE4C_uc002nil.3_Missense_Mutation_p.E649G|PDE4C_uc002nif.3_Missense_Mutation_p.E418G|PDE4C_uc002nig.3_Missense_Mutation_p.E364G|PDE4C_uc002nih.3_Missense_Mutation_p.E419G|PDE4C_uc010ebk.2_Missense_Mutation_p.E543G|PDE4C_uc002nii.3_Missense_Mutation_p.E617G|PDE4C_uc010ebl.2_Missense_Mutation_p.E363G NM_001098819 NP_001092289 Q08493 PDE4C_HUMAN phosphodiesterase 4C isoform PDE4C-2 649 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|skin(2)|central_nervous_system(1) 5 Dyphylline(DB00651) CCCGTCCCGCTCGGGGTTGGT 0.443 8 56 --- --- --- --- PASS SFRS14 10147 broad.mit.edu 37 19 19135671 19135671 + Nonsense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr19:19135671C>A uc002nkx.2 - 3 1632 c.1486G>T c.(1486-1488)GAG>TAG p.E496* SFRS14_uc002nkz.1_Nonsense_Mutation_p.E510*|SFRS14_uc002nla.1_Nonsense_Mutation_p.E496*|SFRS14_uc002nlb.2_Nonsense_Mutation_p.E496*|SFRS14_uc010xqk.1_Nonsense_Mutation_p.E265* NM_014884 NP_055699 Q8IX01 SUGP2_HUMAN splicing factor, arginine/serine-rich 14 496 mRNA processing|RNA splicing nucleus RNA binding 0 OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161) AAGATTTTCTCCTGCCGGAAA 0.507 7 148 --- --- --- --- PASS ZNF91 7644 broad.mit.edu 37 19 23544724 23544724 + Missense_Mutation SNP T C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr19:23544724T>C uc002nre.2 - 4 1170 c.1057A>G c.(1057-1059)AAA>GAA p.K353E ZNF91_uc010xrj.1_Missense_Mutation_p.K321E NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 353 C2H2-type 8. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CCACATTCTTTACATTTGTAG 0.373 3 55 --- --- --- --- PASS MAP4K1 11184 broad.mit.edu 37 19 39088220 39088220 + Silent SNP G A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr19:39088220G>A uc002oix.1 - 23 1792 c.1684C>T c.(1684-1686)CTG>TTG p.L562L MAP4K1_uc002oiw.1_Silent_p.L149L|MAP4K1_uc002oiy.1_Silent_p.L562L|MAP4K1_uc010xug.1_Silent_p.T203T NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 562 CNH. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) TGAGAATACAGGTGGGGGGTC 0.552 6 24 --- --- --- --- PASS GRIK5 2901 broad.mit.edu 37 19 42566697 42566697 + Nonsense_Mutation SNP G A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr19:42566697G>A uc002osj.1 - 4 486 c.451C>T c.(451-453)CGA>TGA p.R151* GRIK5_uc010eib.1_Nonsense_Mutation_p.R70* NM_002088 NP_002079 Q16478 GRIK5_HUMAN glutamate receptor KA2 precursor 151 Extracellular (Potential). cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity 0 Prostate(69;0.059) L-Glutamic Acid(DB00142) TTGAGGATTCGGGAGACCGCC 0.577 10 45 --- --- --- --- PASS PSG3 5671 broad.mit.edu 37 19 43243198 43243198 + Silent SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr19:43243198G>T uc002oue.2 - 2 240 c.108C>A c.(106-108)GTC>GTA p.V36V PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Silent_p.V58V NM_021016 NP_066296 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 36 Ig-like V-type. defense response|female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) CTTCAATCGTGACTTGGGCAG 0.463 10 65 --- --- --- --- PASS HIF3A 64344 broad.mit.edu 37 19 46842856 46842856 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr19:46842856G>T uc002peh.2 + 15 2016 c.1987G>T c.(1987-1989)GCA>TCA p.A663S HIF3A_uc002pek.2_Missense_Mutation_p.A607S|HIF3A_uc010xxy.1_Missense_Mutation_p.A594S|HIF3A_uc002pel.2_Missense_Mutation_p.A661S NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 663 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) CCAGCCAAGGGCAGGCTCAGC 0.622 8 32 --- --- --- --- PASS ELSPBP1 64100 broad.mit.edu 37 19 48525518 48525518 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr19:48525518G>T uc002pht.2 + 6 761 c.606G>T c.(604-606)AAG>AAT p.K202N NM_022142 NP_071425 Q96BH3 ESPB1_HUMAN epididymal sperm binding protein 1 precursor 202 Fibronectin type-II 4. single fertilization extracellular region 0 all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606) AAGGATCAAAGGAGAACCTTG 0.458 5 76 --- --- --- --- PASS SIGLEC7 27036 broad.mit.edu 37 19 51645698 51645698 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr19:51645698G>T uc002pvv.1 + 1 141 c.72G>T c.(70-72)AAG>AAT p.K24N SIGLEC7_uc002pvw.1_Missense_Mutation_p.K24N|SIGLEC7_uc010eoq.1_RNA|SIGLEC7_uc010eor.1_Missense_Mutation_p.K24N NM_014385 NP_055200 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 isoform 1 24 Extracellular (Potential). cell adhesion integral to plasma membrane receptor activity|sugar binding large_intestine(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) GTAACCGGAAGGATTACTCGC 0.512 6 22 --- --- --- --- PASS LILRA2 11027 broad.mit.edu 37 19 55087509 55087509 + Nonsense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr19:55087509C>A uc002qgg.3 + 6 1277 c.1188C>A c.(1186-1188)TAC>TAA p.Y396* LILRA2_uc010ern.2_Nonsense_Mutation_p.Y396*|LILRA2_uc002qgf.2_Nonsense_Mutation_p.Y396*|LILRA2_uc010yfe.1_Nonsense_Mutation_p.Y396*|LILRA2_uc010yff.1_Nonsense_Mutation_p.Y384*|LILRA2_uc010ero.2_Nonsense_Mutation_p.Y384*|LILRA2_uc010yfg.1_Intron NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 396 Ig-like C2-type 4.|Extracellular (Potential). defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) ACAGATGCTACAGCTCACTCA 0.602 14 99 --- --- --- --- PASS NLRP7 199713 broad.mit.edu 37 19 55435122 55435122 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr19:55435122C>A uc002qih.3 - 10 3005 c.2929G>T c.(2929-2931)GAC>TAC p.D977Y NLRP7_uc002qig.3_Missense_Mutation_p.D1006Y|NLRP7_uc002qii.3_Missense_Mutation_p.D1034Y|NLRP7_uc010esk.2_3'UTR|NLRP7_uc010esl.2_Missense_Mutation_p.D1062Y NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 977 ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) CAAAAAAAGTCACAGCACGGA 0.473 13 67 --- --- --- --- PASS NLRP4 147945 broad.mit.edu 37 19 56382329 56382329 + Missense_Mutation SNP T A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr19:56382329T>A uc002qmd.3 + 7 2913 c.2491T>A c.(2491-2493)TTG>ATG p.L831M NLRP4_uc002qmf.2_Missense_Mutation_p.L756M|NLRP4_uc010etf.2_Missense_Mutation_p.L606M NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 831 LRR 5. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CTGCGAGGCCTTGAAACATCC 0.493 11 78 --- --- --- --- PASS NLRP13 126204 broad.mit.edu 37 19 56423244 56423244 + Nonsense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr19:56423244C>A uc010ygg.1 - 5 1964 c.1939G>T c.(1939-1941)GAG>TAG p.E647* NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 647 ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AAGTCTTCCTCCTGGGACTCG 0.423 5 70 --- --- --- --- PASS ZNF274 10782 broad.mit.edu 37 19 58723027 58723027 + Missense_Mutation SNP G C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr19:58723027G>C uc002qrq.1 + 9 1413 c.954G>C c.(952-954)GAG>GAC p.E318D ZNF274_uc002qrr.1_Missense_Mutation_p.E286D|ZNF274_uc002qrs.1_Missense_Mutation_p.E213D|ZNF274_uc010eum.1_Missense_Mutation_p.E77D NM_133502 NP_598009 Q96GC6 ZN274_HUMAN zinc finger protein 274 isoform c 318 KRAB 2. viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) TGATGCTGGAGACCTTTGGGC 0.632 4 57 --- --- --- --- PASS SLC27A5 10998 broad.mit.edu 37 19 59010941 59010941 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr19:59010941C>A uc002qtc.2 - 7 1695 c.1585G>T c.(1585-1587)GTT>TTT p.V529F SLC27A5_uc002qtb.2_5'Flank NM_012254 NP_036386 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid 529 Cytoplasmic (Probable). bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity 0 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) TTGTAGTAAACGTCGCCCGAT 0.647 7 46 --- --- --- --- PASS SEC23B 10483 broad.mit.edu 37 20 18516382 18516382 + Missense_Mutation SNP A G G rs150210442 TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr20:18516382A>G uc002wqz.1 + 12 1843 c.1400A>G c.(1399-1401)AAT>AGT p.N467S SEC23B_uc002wra.1_Missense_Mutation_p.N467S|SEC23B_uc002wrb.1_Missense_Mutation_p.N467S|SEC23B_uc010zsb.1_Missense_Mutation_p.N449S|SEC23B_uc002wrc.1_Missense_Mutation_p.N467S NM_006363 NP_006354 Q15437 SC23B_HUMAN Sec23 homolog B 467 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding ovary(1) 1 GAAGTTGTCAATCAGGTGAGT 0.438 9 37 --- --- --- --- PASS CST8 10047 broad.mit.edu 37 20 23472308 23472308 + Missense_Mutation SNP C G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr20:23472308C>G uc002wth.1 + 2 361 c.4C>G c.(4-6)CCC>GCC p.P2A NM_005492 NP_005483 O60676 CST8_HUMAN cystatin 8 precursor 2 extracellular region cysteine-type endopeptidase inhibitor activity 0 Colorectal(13;0.0431)|Lung NSC(19;0.235) AGGGACCATGCCCAGGTGCCG 0.612 14 66 --- --- --- --- PASS ENTPD6 955 broad.mit.edu 37 20 25187731 25187731 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr20:25187731G>T uc002wuj.2 + 3 254 c.74G>T c.(73-75)TGG>TTG p.W25L ENTPD6_uc010zsy.1_Missense_Mutation_p.W25L|ENTPD6_uc010gdj.1_5'UTR|ENTPD6_uc010zsz.1_Intron|ENTPD6_uc002wum.2_Missense_Mutation_p.W8L|ENTPD6_uc010zta.1_Missense_Mutation_p.W25L|ENTPD6_uc002wun.2_Missense_Mutation_p.W25L|ENTPD6_uc002wuk.2_Missense_Mutation_p.W24L|ENTPD6_uc002wul.2_Missense_Mutation_p.W24L|ENTPD6_uc010ztb.1_5'UTR|ENTPD6_uc010ztc.1_5'UTR|ENTPD6_uc002wuo.2_Intron|ENTPD6_uc010ztd.1_5'Flank NM_001247 NP_001238 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 25 Cytoplasmic (Potential). Golgi membrane|integral to membrane nucleoside-diphosphatase activity 0 CACGGTCCTTGGCAAACAAGG 0.607 5 45 --- --- --- --- PASS SNAI1 6615 broad.mit.edu 37 20 48600466 48600466 + Missense_Mutation SNP C G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr20:48600466C>G uc002xuz.2 + 2 258 c.188C>G c.(187-189)TCT>TGT p.S63C NM_005985 NP_005976 O95863 SNAI1_HUMAN snail 1 homolog 63 epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;4.03e-06) ATCTGGGACTCTGTCCTGGCG 0.652 8 33 --- --- --- --- PASS DIDO1 11083 broad.mit.edu 37 20 61541126 61541126 + Missense_Mutation SNP T G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr20:61541126T>G uc002ydr.1 - 4 1350 c.1086A>C c.(1084-1086)GAA>GAC p.E362D DIDO1_uc002yds.1_Missense_Mutation_p.E362D|DIDO1_uc002ydt.1_Missense_Mutation_p.E362D|DIDO1_uc002ydu.1_Missense_Mutation_p.E362D|DIDO1_uc002ydv.1_Missense_Mutation_p.E362D|DIDO1_uc002ydw.1_Missense_Mutation_p.E362D|DIDO1_uc002ydx.1_Missense_Mutation_p.E362D|DIDO1_uc011aao.1_Missense_Mutation_p.E362D NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 362 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) TCCCTTGGTCTTCGCTAGACT 0.458 23 154 --- --- --- --- PASS RNF160 26046 broad.mit.edu 37 21 30304833 30304833 + Silent SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr21:30304833G>T uc002ymr.2 - 28 5180 c.5167C>A c.(5167-5169)CGG>AGG p.R1723R NM_015565 NP_056380 O94822 LTN1_HUMAN zinc finger protein 294 1677 ligase activity|zinc ion binding 0 ATCCAGTTCCGCCACTGCTGA 0.378 5 172 --- --- --- --- PASS SLC37A1 54020 broad.mit.edu 37 21 43959738 43959738 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr21:43959738G>T uc002zbi.2 + 7 879 c.467G>T c.(466-468)GGA>GTA p.G156V SLC37A1_uc002zbj.2_Missense_Mutation_p.G156V NM_018964 NP_061837 P57057 GLPT_HUMAN solute carrier family 37 member 1 156 carbohydrate transport|transmembrane transport integral to membrane 0 CACAGTTTCGGATTCTACGTG 0.522 6 51 --- --- --- --- PASS KRTAP10-7 386675 broad.mit.edu 37 21 46021203 46021203 + Missense_Mutation SNP C T T rs672479 TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr21:46021203C>T uc002zfn.3 + 2 692 c.667C>T c.(667-669)CCT>TCT p.P223S C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198689 NP_941962 P60409 KR107_HUMAN keratin associated protein 10-7 228 30 X 5 AA repeats of C-C-X(3). keratin filament 0 CACCTCCTCCCCCTGCCAGCA 0.652 8 84 --- --- --- --- PASS MYO18B 84700 broad.mit.edu 37 22 26423089 26423089 + Silent SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr22:26423089G>T uc003abz.1 + 43 7399 c.7149G>T c.(7147-7149)CGG>CGT p.R2383R MYO18B_uc003aca.1_Silent_p.R2264R|MYO18B_uc010guy.1_Silent_p.R2265R|MYO18B_uc010guz.1_Silent_p.R2263R|MYO18B_uc011aka.1_Silent_p.R1537R|MYO18B_uc011akb.1_Silent_p.R1896R|MYO18B_uc010gva.1_Silent_p.R366R|MYO18B_uc010gvb.1_RNA NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2383 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 TGCGTCCTCGGAGGCGGTGTC 0.602 15 57 --- --- --- --- PASS SEC14L2 23541 broad.mit.edu 37 22 30818328 30818328 + Nonsense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr22:30818328G>T uc003ahr.2 + 12 1317 c.1144G>T c.(1144-1146)GAG>TAG p.E382* SEC14L2_uc011akx.1_Nonsense_Mutation_p.E328*|SEC14L2_uc003ahs.2_Nonsense_Mutation_p.E308*|SEC14L2_uc011aky.1_Nonsense_Mutation_p.E299*|SEC14L2_uc003aht.2_RNA|SEC14L2_uc003ahu.3_Intron|SEC14L2_uc010gvv.2_RNA|SEC14L2_uc010gvw.1_Intron|MTP18_uc010gvx.1_Intron|MTP18_uc003ahv.1_Intron|MTP18_uc010gvy.1_Intron NM_012429 NP_036561 O76054 S14L2_HUMAN SEC14-like 2 isoform 1 382 GOLD. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus phospholipid binding|transporter activity|vitamin E binding 0 Vitamin E(DB00163) TTTCACTGTGGAGGTCCTGCT 0.522 6 59 --- --- --- --- PASS FAM47C 442444 broad.mit.edu 37 X 37027657 37027657 + Missense_Mutation SNP C G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chrX:37027657C>G uc004ddl.1 + 1 1188 c.1174C>G c.(1174-1176)CCA>GCA p.P392A NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 392 ovary(3) 3 TCCTCTCCGCCCAGAGACCCC 0.612 3 15 --- --- --- --- PASS CACNA1F 778 broad.mit.edu 37 X 49067838 49067838 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chrX:49067838C>A uc004dnb.2 - 36 4299 c.4237G>T c.(4237-4239)GGT>TGT p.G1413C CACNA1F_uc010nip.2_Missense_Mutation_p.G1402C NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 1413 Phenylalkylamine binding (By similarity).|Extracellular (Potential).|IV.|Dihydropyridine binding (By similarity). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) AAATTGCTACCACAGGTAAAC 0.537 4 31 --- --- --- --- PASS HEPH 9843 broad.mit.edu 37 X 65392409 65392409 + Missense_Mutation SNP C G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chrX:65392409C>G uc011moz.1 + 3 449 c.389C>G c.(388-390)CCT>CGT p.P130R HEPH_uc004dwn.2_Missense_Mutation_p.P130R|HEPH_uc004dwo.2_5'UTR|HEPH_uc010nkr.2_Missense_Mutation_p.P130R|HEPH_uc011mpa.1_Missense_Mutation_p.P130R NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 127 Extracellular (Potential).|Plastocyanin-like 1. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 ACCATCCACCCTCATGGTGTC 0.493 5 31 --- --- --- --- PASS HEPH 9843 broad.mit.edu 37 X 65427122 65427122 + Missense_Mutation SNP A G G TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chrX:65427122A>G uc011moz.1 + 14 2446 c.2386A>G c.(2386-2388)ACA>GCA p.T796A HEPH_uc004dwn.2_Missense_Mutation_p.T796A|HEPH_uc004dwo.2_Missense_Mutation_p.T526A|HEPH_uc010nkr.2_Missense_Mutation_p.T604A|HEPH_uc011mpa.1_Missense_Mutation_p.T796A|HEPH_uc010nks.2_Missense_Mutation_p.T85A NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 793 Extracellular (Potential).|Plastocyanin-like 5. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 CACTGATGGTACATTCAGGAT 0.468 5 15 --- --- --- --- PASS HEPH 9843 broad.mit.edu 37 X 65427158 65427158 + Nonsense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chrX:65427158G>T uc011moz.1 + 14 2482 c.2422G>T c.(2422-2424)GAA>TAA p.E808* HEPH_uc004dwn.2_Nonsense_Mutation_p.E808*|HEPH_uc004dwo.2_Nonsense_Mutation_p.E538*|HEPH_uc010nkr.2_Nonsense_Mutation_p.E616*|HEPH_uc011mpa.1_Nonsense_Mutation_p.E808*|HEPH_uc010nks.2_Nonsense_Mutation_p.E97* NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 805 Extracellular (Potential).|Plastocyanin-like 5. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 TGGACCAGAAGAACACTTGGG 0.493 4 17 --- --- --- --- PASS CYLC1 1538 broad.mit.edu 37 X 83128462 83128462 + Missense_Mutation SNP T C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chrX:83128462T>C uc004eei.1 + 4 767 c.746T>C c.(745-747)ATG>ACG p.M249T CYLC1_uc004eeh.1_Missense_Mutation_p.M248T NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 249 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 GATTTCCTCATGTTAGTGGGA 0.313 4 15 --- --- --- --- PASS CHRDL1 91851 broad.mit.edu 37 X 109924818 109924818 + Missense_Mutation SNP G C C TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chrX:109924818G>C uc004eou.3 - 10 1397 c.1048C>G c.(1048-1050)CCT>GCT p.P350A CHRDL1_uc004eov.2_Missense_Mutation_p.P339A|CHRDL1_uc004eow.2_Missense_Mutation_p.P348A|CHRDL1_uc010nps.2_Missense_Mutation_p.P349A|CHRDL1_uc004eot.2_Missense_Mutation_p.P269A|CHRDL1_uc011mss.1_Missense_Mutation_p.P264A NM_001143981 NP_001137453 Q9BU40 CRDL1_HUMAN chordin-like 1 isoform 1 precursor 342 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region 0 TCATACACAGGCATCGTTTCT 0.453 6 43 --- --- --- --- PASS ARHGAP36 158763 broad.mit.edu 37 X 130218636 130218636 + Missense_Mutation SNP C A A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chrX:130218636C>A uc004evz.2 + 6 1130 c.785C>A c.(784-786)TCC>TAC p.S262Y ARHGAP36_uc004ewa.2_Missense_Mutation_p.S250Y|ARHGAP36_uc004ewb.2_Missense_Mutation_p.S231Y|ARHGAP36_uc004ewc.2_Missense_Mutation_p.S126Y NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 262 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 CTTGAATACTCCGTGCAGCGA 0.473 8 45 --- --- --- --- PASS IGSF1 3547 broad.mit.edu 37 X 130417031 130417031 + Missense_Mutation SNP C T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chrX:130417031C>T uc004ewd.2 - 6 1113 c.875G>A c.(874-876)GGA>GAA p.G292E IGSF1_uc004ewe.3_Missense_Mutation_p.G281E|IGSF1_uc004ewf.2_Missense_Mutation_p.G272E NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 292 Ig-like C2-type 3.|Extracellular (Potential). regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 GAGGTAATGTCCAGTATCTTG 0.398 4 31 --- --- --- --- PASS F9 2158 broad.mit.edu 37 X 138623348 138623348 + Missense_Mutation SNP G T T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chrX:138623348G>T uc004fas.1 + 4 420 c.391G>T c.(391-393)GAT>TAT p.D131Y F9_uc004fat.1_Intron NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 131 EGF-like 2. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) CTGTGAATTAGGTAAGTAACT 0.338 4 21 --- --- --- --- PASS LOC284632 284632 broad.mit.edu 37 1 24537536 24537536 + RNA DEL T - - TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr1:24537536delT uc010oei.1 + 3 c.1202delT NR_027087 Homo sapiens hypothetical protein LOC284632, mRNA (cDNA clone IMAGE:4826835). 0 ACCCTCTTTCTTAACCAGACA 0.458 4 2 --- --- --- --- LOC100128164 100128164 broad.mit.edu 37 3 169664945 169664946 + RNA DEL GT - - TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr3:169664945_169664946delGT uc011bpp.1 - 2 c.2857_2858delAC NR_027622 Homo sapiens cDNA FLJ41016 fis, clone UTERU2018784. 0 AGGTATATTCgtgtgtgtgtgt 0.168 4 2 --- --- --- --- Unknown 0 broad.mit.edu 37 15 62538522 62538523 + RNA INS - GA GA rs3055695 TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr15:62538522_62538523insGA uc002ain.1 - 5 c.694_695insTC uc002ajj.1_3'UTR|uc002ajn.2_5'Flank|uc002ajo.2_5'Flank|uc002ajq.2_5'Flank|uc002ajr.1_5'Flank|uc010uhp.1_5'Flank|uc002ajt.2_5'Flank|uc002ajw.2_5'Flank|uc010uhq.1_5'Flank|uc002ajx.2_5'Flank|uc002ajy.2_5'Flank Homo sapiens cDNA FLJ38723 fis, clone KIDNE2010137, weakly similar to GOLGIN-95. GGGGGCTCCGGGTAGGGGTTCA 0.609 4 3 --- --- --- --- PRR25 388199 broad.mit.edu 37 16 863772 863772 + Frame_Shift_Del DEL G - - TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr16:863772delG uc010uut.1 + 3 1120 c.1120delG c.(1120-1122)GGGfs p.G374fs NM_001013638 NP_001013660 Q96S07 PRR25_HUMAN proline rich 25 374 large_intestine(1) 1 GCGGATCCCCGGGGCCGCGCG 0.796 4 2 --- --- --- --- LOC652276 652276 broad.mit.edu 37 16 2660756 2660756 + RNA DEL A - - TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr16:2660756delA uc002cqx.2 + 2 c.638delA LOC652276_uc002cqy.3_RNA Homo sapiens cDNA FLJ39075 fis, clone NT2RP7016911. 0 GCTGTCTTACAAAAAAAAAAA 0.294 2 4 --- --- --- --- Unknown 0 broad.mit.edu 37 16 25078519 25078519 + RNA DEL C - - TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr16:25078519delC uc002dnh.1 + 1 c.161delC uc002dni.1_5'Flank|uc010vch.1_5'Flank|uc002dnj.2_5'Flank Homo sapiens cDNA FLJ36063 fis, clone TESTI2018975. TCCTCTCTTGCCGCGCGCCGA 0.652 4 2 --- --- --- --- ITGA2B 3674 broad.mit.edu 37 17 42463236 42463236 + Frame_Shift_Del DEL G - - TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx db4ea3ec-e926-4e75-a97b-a527c101b3b9 f2af4deb-a3cb-4ed4-a800-1530842ff69e g.chr17:42463236delG uc002igt.1 - 3 396 c.364delC c.(364-366)CAAfs p.Q122fs NM_000419 NP_000410 P08514 ITA2B_HUMAN integrin alpha 2b preproprotein 122 Extracellular (Potential).|FG-GAP 2. axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity ovary(2)|lung(1) 3 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) CCCAGTCCTTGGCGGGCCTTG 0.642 4 2 --- --- --- ---