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 KIF1B 23095 broad.mit.edu 37 1 10403337 10403337 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:10403337C>A uc001aqx.3 + 34 3882 c.3680C>A c.(3679-3681)TCC>TAC p.S1227Y KIF1B_uc001aqw.3_Missense_Mutation_p.S1181Y|KIF1B_uc001aqy.2_Missense_Mutation_p.S1201Y|KIF1B_uc001aqz.2_Missense_Mutation_p.S1227Y|KIF1B_uc001ara.2_Missense_Mutation_p.S1187Y|KIF1B_uc001arb.2_Missense_Mutation_p.S1213Y NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 1227 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) ATGCCACTGTCCAAGCCAGGT 0.423 27 6 --- --- --- --- PASS FBXO44 93611 broad.mit.edu 37 1 11721284 11721284 + Missense_Mutation SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:11721284C>T uc001asm.2 + 6 848 c.722C>T c.(721-723)CCG>CTG p.P241L FBXO44_uc001ask.2_Silent_p.P199P|FBXO44_uc001asl.2_Missense_Mutation_p.P241L|FBXO44_uc001asn.2_Silent_p.P199P|FBXO44_uc010oar.1_Silent_p.P231P|FBXO44_uc010oas.1_Missense_Mutation_p.P101L|FBXO6_uc001aso.2_5'Flank NM_033182 NP_149438 Q9H4M3 FBX44_HUMAN F-box protein 44 isoform 1 241 FBA. protein catabolic process SCF ubiquitin ligase complex protein binding ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) TGGTACGGCCCGAGGGTCACC 0.632 51 13 --- --- --- --- PASS JAK1 3716 broad.mit.edu 37 1 65309869 65309869 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:65309869G>A uc001dbu.1 - 17 2530 c.2281C>T c.(2281-2283)CCT>TCT p.P761S JAK1_uc009wam.1_Missense_Mutation_p.P749S|JAK1_uc009wal.1_5'UTR NM_002227 NP_002218 P23458 JAK1_HUMAN janus kinase 1 761 Protein kinase 1. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1) 61 BRCA - Breast invasive adenocarcinoma(111;0.0485) ACACACTCAGGAGCAATCCAT 0.498 Mis ALL 13 125 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70504838 70504838 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:70504838C>A uc001dep.2 + 19 3247 c.3217C>A c.(3217-3219)CCT>ACT p.P1073T LRRC7_uc009wbg.2_Missense_Mutation_p.P357T|LRRC7_uc001deq.2_Missense_Mutation_p.P314T NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1073 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TTTGATTAGTCCTAGAGCTTA 0.478 45 3 --- --- --- --- PASS SLC44A5 204962 broad.mit.edu 37 1 75805294 75805294 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:75805294G>T uc001dgu.2 - 4 218 c.74C>A c.(73-75)CCA>CAA p.P25Q SLC44A5_uc001dgt.2_Missense_Mutation_p.P25Q|SLC44A5_uc001dgs.2_5'UTR|SLC44A5_uc001dgr.2_5'UTR|SLC44A5_uc010oqz.1_Missense_Mutation_p.P64Q|SLC44A5_uc010ora.1_Missense_Mutation_p.P19Q|SLC44A5_uc010orb.1_5'UTR NM_152697 NP_689910 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 isoform A 25 Cytoplasmic (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity ovary(2)|skin(2) 4 CTTGAAATCTGGGTCATATGT 0.348 244 52 --- --- --- --- PASS C1orf103 55791 broad.mit.edu 37 1 111495194 111495194 + Silent SNP T C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:111495194T>C uc001eaa.2 - 2 568 c.312A>G c.(310-312)TCA>TCG p.S104S C1orf103_uc001dzz.2_5'UTR|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron NM_018372 NP_060842 Q5T3J3 LRIF1_HUMAN receptor-interacting factor 1 isoform 1 104 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding 0 all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451) Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134) GAAAATAGTTTGAAGAACTGG 0.373 81 9 --- --- --- --- PASS SPAG17 200162 broad.mit.edu 37 1 118530769 118530769 + Silent SNP T C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:118530769T>C uc001ehk.2 - 39 5648 c.5580A>G c.(5578-5580)CCA>CCG p.P1860P NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1860 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) ATGTGTCTGGTGGGCATTTTG 0.358 26 10 --- --- --- --- PASS HDGF 3068 broad.mit.edu 37 1 156714059 156714059 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:156714059C>A uc001fpy.3 - 4 707 c.385G>T c.(385-387)GCA>TCA p.A129S HDGF_uc009wsd.2_Missense_Mutation_p.A97S|HDGF_uc001fpz.3_Missense_Mutation_p.A122S|HDGF_uc009wse.2_Missense_Mutation_p.A145S|HDGF_uc010phr.1_Missense_Mutation_p.A152S|HDGF_uc009wsf.2_Missense_Mutation_p.A97S|HDGF_uc009wsg.2_Missense_Mutation_p.A129S NM_004494 NP_004485 P51858 HDGF_HUMAN hepatoma-derived growth factor isoform a 129 Glu-rich. cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|extracellular space|nucleus DNA binding|growth factor activity|heparin binding|nucleotide binding lung(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) Breast(1374;0.198) Colorectal(1306;0.018) CTGCCCTCTGCATTCCCCTTC 0.562 537 352 --- --- --- --- PASS CD1C 911 broad.mit.edu 37 1 158259909 158259909 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:158259909G>T uc001fru.2 + 1 347 c.55G>T c.(55-57)GCA>TCA p.A19S CD1C_uc001frv.2_5'Flank NM_001765 NP_001756 P29017 CD1C_HUMAN CD1C antigen precursor 19 Extracellular (Potential). antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding ovary(2)|skin(1)|pancreas(1) 4 all_hematologic(112;0.0378) TGGTGACAATGCAGACGGTAA 0.468 48 149 --- --- --- --- PASS CCDC19 25790 broad.mit.edu 37 1 159846478 159846478 + Missense_Mutation SNP T C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:159846478T>C uc001fui.2 - 10 1238 c.1220A>G c.(1219-1221)AAG>AGG p.K407R CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.K322R|CCDC19_uc001ful.2_Missense_Mutation_p.K322R|CCDC19_uc009wtc.1_Silent_p.K406K NM_012337 NP_036469 Q9UL16 CCD19_HUMAN nasopharyngeal epithelium specific protein 1 407 Potential. mitochondrion|soluble fraction ovary(1) 1 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) CGCATTTTCCTTTTCCTTTCT 0.552 3 103 --- --- --- --- PASS IGSF9 57549 broad.mit.edu 37 1 159904551 159904551 + Silent SNP T C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:159904551T>C uc001fur.2 - 7 933 c.735A>G c.(733-735)TCA>TCG p.S245S IGSF9_uc001fuq.2_Silent_p.S245S|IGSF9_uc001fup.2_5'Flank NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 isoform a 245 Ig-like 3.|Extracellular (Potential). cell junction|integral to membrane|synapse ovary(2)|central_nervous_system(2)|large_intestine(1) 5 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GGCAGGCCAATGAAACATCCT 0.567 78 40 --- --- --- --- PASS BLZF1 8548 broad.mit.edu 37 1 169349804 169349804 + Missense_Mutation SNP A T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:169349804A>T uc001gfx.1 + 5 1191 c.754A>T c.(754-756)AGT>TGT p.S252C BLZF1_uc001gfy.2_Missense_Mutation_p.S252C|BLZF1_uc009wvp.1_Missense_Mutation_p.S229C NM_003666 NP_003657 Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 252 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding skin(1) 1 all_hematologic(923;0.208) AGATCTCCTAAGTGAACGGGA 0.408 48 134 --- --- --- --- PASS F5 2153 broad.mit.edu 37 1 169555505 169555505 + Silent SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:169555505G>A uc001ggg.1 - 1 265 c.120C>T c.(118-120)GGC>GGT p.G40G F5_uc010plr.1_RNA NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 40 F5/8 type A 1.|Plastocyanin-like 1. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TCCAACTGATGCCCTGAGCAG 0.567 92 58 --- --- --- --- PASS METTL13 51603 broad.mit.edu 37 1 171753036 171753036 + Missense_Mutation SNP G C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:171753036G>C uc001ghz.2 + 2 657 c.310G>C c.(310-312)GAC>CAC p.D104H METTL13_uc001gia.2_Missense_Mutation_p.D18H|METTL13_uc001gib.2_Missense_Mutation_p.D104H|METTL13_uc010pml.1_Missense_Mutation_p.D103H NM_015935 NP_057019 Q8N6R0 MTL13_HUMAN CGI-01 protein isoform 1 104 methyltransferase activity|protein binding kidney(1) 1 CTTGAAGATGGACATGACGCA 0.502 52 139 --- --- --- --- PASS TNN 63923 broad.mit.edu 37 1 175046735 175046735 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:175046735G>T uc001gkl.1 + 2 294 c.181G>T c.(181-183)GAC>TAC p.D61Y TNN_uc010pmx.1_Missense_Mutation_p.D61Y NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 61 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GGTTGACGCTGACCCTCAGCC 0.592 40 64 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175299209 175299209 + Splice_Site SNP C G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:175299209C>G uc001gkp.1 - 19 3874 c.3793_splice c.e19+1 p.G1265_splice TNR_uc009wwu.1_Splice_Site_p.G1265_splice NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) GCCATAGGTACCCGCAGTGCC 0.587 74 55 --- --- --- --- PASS FAM5C 339479 broad.mit.edu 37 1 190067447 190067447 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:190067447C>A uc001gse.1 - 8 2234 c.2002G>T c.(2002-2004)GTG>TTG p.V668L FAM5C_uc010pot.1_Missense_Mutation_p.V566L NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 668 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TAGCCAAACACTTGAATGTTA 0.453 81 205 --- --- --- --- PASS CFHR5 81494 broad.mit.edu 37 1 196965178 196965178 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:196965178C>A uc001gts.3 + 6 945 c.817C>A c.(817-819)CCT>ACT p.P273T NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor 273 Sushi 5. complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 TGGATACATACCTGAACTCGA 0.338 85 221 --- --- --- --- PASS CYB5R1 51706 broad.mit.edu 37 1 202936319 202936319 + Silent SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:202936319C>T uc001gyt.2 - 1 86 c.15G>A c.(13-15)ACG>ACA p.T5T CYB5R1_uc010pqe.1_RNA NM_016243 NP_057327 Q9UHQ9 NB5R1_HUMAN cytochrome b5 reductase 1 5 sterol biosynthetic process integral to membrane cytochrome-b5 reductase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(75;0.141) AGGGTCTTACCGTCTGGATCC 0.547 11 26 --- --- --- --- PASS DSTYK 25778 broad.mit.edu 37 1 205116781 205116781 + Silent SNP A G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:205116781A>G uc001hbw.2 - 13 2759 c.2695T>C c.(2695-2697)TTG>CTG p.L899L DSTYK_uc001hbx.2_Silent_p.L854L NM_015375 NP_056190 Q6XUX3 DUSTY_HUMAN receptor interacting protein kinase 5 isoform 1 899 Protein kinase. cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(1) 1 ACAATGCCCAAGAGAGGCCTC 0.532 201 138 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216144034 216144034 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:216144034G>A uc001hku.1 - 36 7277 c.6890C>T c.(6889-6891)GCT>GTT p.A2297V NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2297 Fibronectin type-III 9.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACTCCAAGGAGCAAATCCGTA 0.413 HNSCC(13;0.011) 90 185 --- --- --- --- PASS HIST3H2A 92815 broad.mit.edu 37 1 228645337 228645337 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:228645337G>A uc001hsy.2 - 1 224 c.182C>T c.(181-183)GCC>GTC p.A61V HIST3H2BB_uc001hsz.2_5'Flank NM_033445 NP_254280 Q7L7L0 H2A3_HUMAN histone cluster 3, H2a 61 nucleosome assembly nucleosome|nucleus DNA binding ovary(1) 1 Prostate(94;0.183) CAGGATCTCGGCAGTCAAGTA 0.687 4 103 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237798254 237798254 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:237798254G>A uc001hyl.1 + 44 6874 c.6754G>A c.(6754-6756)GAA>AAA p.E2252K NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2252 Cytoplasmic (By similarity).|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) GGATAATAATGAACTAGCATT 0.428 6 17 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237921021 237921021 + Missense_Mutation SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:237921021C>T uc001hyl.1 + 82 11390 c.11270C>T c.(11269-11271)GCT>GTT p.A3757V RYR2_uc010pya.1_Missense_Mutation_p.A172V NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3757 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) ATGGTAGCAGCTACTCTGAAA 0.368 48 124 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237942003 237942003 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:237942003G>A uc001hyl.1 + 88 11933 c.11813G>A c.(11812-11814)AGC>AAC p.S3938N RYR2_uc010pya.1_Missense_Mutation_p.S353N NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3938 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) TTGGCACACAGCAGGCTGTGG 0.448 46 130 --- --- --- --- PASS OR2C3 81472 broad.mit.edu 37 1 247695265 247695265 + Silent SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:247695265G>T uc009xgy.2 - 2 911 c.549C>A c.(547-549)CCC>CCA p.P183P C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank NM_198074 NP_932340 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, 183 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 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;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) GCATAATGAGGGGCATCTCGC 0.562 39 15 --- --- --- --- PASS OR13G1 441933 broad.mit.edu 37 1 247835993 247835993 + Nonsense_Mutation SNP A C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:247835993A>C uc001idi.1 - 1 351 c.351T>G c.(349-351)TAT>TAG p.Y117* NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 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;0.017) CATAGCGGTCATAGGCCATGG 0.463 35 82 --- --- --- --- PASS OR1C1 26188 broad.mit.edu 37 1 247920813 247920813 + Missense_Mutation SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:247920813C>T uc010pza.1 - 1 896 c.896G>A c.(895-897)AGG>AAG p.R299K NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 299 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CTGAAGTCCCCTCTTCATATC 0.418 53 195 --- --- --- --- PASS OR14A16 284532 broad.mit.edu 37 1 247978629 247978629 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:247978629C>A uc001idm.1 - 1 403 c.403G>T c.(403-405)GAC>TAC p.D135Y NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, 135 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GTGCTCCTGTCCATGATGACA 0.517 98 217 --- --- --- --- PASS OR11L1 391189 broad.mit.edu 37 1 248004903 248004903 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:248004903G>A uc001idn.1 - 1 296 c.296C>T c.(295-297)GCA>GTA p.A99V NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 99 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GTAGAGCTGTGCCATGCAGGC 0.592 18 43 --- --- --- --- PASS OR2L13 284521 broad.mit.edu 37 1 248263567 248263567 + Missense_Mutation SNP T C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:248263567T>C uc001ids.2 + 3 1227 c.890T>C c.(889-891)CTG>CCG p.L297P NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 297 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) AAGGAAGTCCTGGGGGCTATG 0.473 76 59 --- --- --- --- PASS OR2M5 127059 broad.mit.edu 37 1 248309138 248309138 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:248309138C>A uc010pze.1 + 1 689 c.689C>A c.(688-690)TCT>TAT p.S230Y NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 230 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CACATGGGATCTGGAGAGGGT 0.448 422 298 --- --- --- --- PASS OR2T33 391195 broad.mit.edu 37 1 248437007 248437007 + Missense_Mutation SNP A T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:248437007A>T uc010pzi.1 - 1 110 c.110T>A c.(109-111)CTG>CAG p.L37Q NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 37 Helical; Name=1; (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) ATTGCCAAACAGGGAGGTCAA 0.488 61 169 --- --- --- --- PASS OR2T4 127074 broad.mit.edu 37 1 248525905 248525905 + Silent SNP T A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:248525905T>A uc001ieh.1 + 1 1023 c.1023T>A c.(1021-1023)CCT>CCA p.P341P NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 341 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CAGTGGAACCTGCCTTTCAAA 0.388 94 207 --- --- --- --- PASS KIDINS220 57498 broad.mit.edu 37 2 8952524 8952524 + Splice_Site SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:8952524C>T uc002qzc.2 - 6 686 c.504_splice c.e6+1 p.K168_splice KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Splice_Site_p.K126_splice|KIDINS220_uc010yiw.1_Splice_Site_p.K169_splice NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate of 220 kDa activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TGCTGACCTACCTTATCAGAG 0.398 32 94 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21230036 21230036 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:21230036G>T uc002red.2 - 26 9832 c.9704C>A c.(9703-9705)GCT>GAT p.A3235D NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3235 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AGATTTTTCAGCTTTGTACTT 0.363 47 103 --- --- --- --- PASS OTOF 9381 broad.mit.edu 37 2 26696918 26696918 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:26696918C>A uc002rhk.2 - 27 3476 c.3349G>T c.(3349-3351)GGT>TGT p.G1117C OTOF_uc010yla.1_5'Flank|OTOF_uc002rhh.2_Missense_Mutation_p.G370C|OTOF_uc002rhi.2_Missense_Mutation_p.G427C|OTOF_uc002rhj.2_Missense_Mutation_p.G370C NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 1117 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) ATGATGGGACCTCGGTCCACG 0.647 113 70 --- --- --- --- PASS ZNF512 84450 broad.mit.edu 37 2 27826121 27826121 + Missense_Mutation SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:27826121C>T uc002rla.2 + 9 970 c.883C>T c.(883-885)CCA>TCA p.P295S ZNF512_uc010ylv.1_Missense_Mutation_p.P216S|ZNF512_uc010ylw.1_Missense_Mutation_p.P266S|ZNF512_uc002rlb.2_Missense_Mutation_p.P216S|ZNF512_uc010ylx.1_Missense_Mutation_p.P216S|ZNF512_uc002rlc.2_Missense_Mutation_p.P216S|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_Missense_Mutation_p.P188S NM_032434 NP_115810 Q96ME7 ZN512_HUMAN zinc finger protein 512 295 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) CTGTGGAAAACCATATAGGTC 0.488 93 245 --- --- --- --- PASS SRBD1 55133 broad.mit.edu 37 2 45704186 45704186 + Silent SNP T A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:45704186T>A uc002rus.2 - 16 2071 c.1995A>T c.(1993-1995)CCA>CCT p.P665P SRBD1_uc010yoc.1_Silent_p.P184P NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 665 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding central_nervous_system(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) GCTCAGCTAATGGATCTTGTA 0.338 65 53 --- --- --- --- PASS VRK2 7444 broad.mit.edu 37 2 58350361 58350361 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:58350361G>T uc002rzo.2 + 11 1414 c.669G>T c.(667-669)AAG>AAT p.K223N VRK2_uc010fcb.2_Missense_Mutation_p.K223N|VRK2_uc002rzs.2_Missense_Mutation_p.K223N|VRK2_uc002rzr.2_Missense_Mutation_p.K223N|VRK2_uc010fcc.2_Missense_Mutation_p.K105N|VRK2_uc002rzv.2_Missense_Mutation_p.K223N|VRK2_uc010fcd.2_Missense_Mutation_p.K200N|VRK2_uc002rzp.2_Missense_Mutation_p.K223N|VRK2_uc010ypg.1_Missense_Mutation_p.K223N|VRK2_uc002rzq.2_Missense_Mutation_p.K223N|VRK2_uc002rzu.2_Missense_Mutation_p.K223N|VRK2_uc002rzt.2_Missense_Mutation_p.K105N|VRK2_uc010yph.1_Missense_Mutation_p.K105N NM_001130482 NP_001123954 Q86Y07 VRK2_HUMAN vaccinia related kinase 2 isoform 2 223 Protein kinase. integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 ATGCCCACAAGGGAGTAGGTG 0.393 73 207 --- --- --- --- PASS WDR92 116143 broad.mit.edu 37 2 68361898 68361898 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:68361898G>T uc002see.1 - 7 883 c.802C>A c.(802-804)CTG>ATG p.L268M WDR92_uc002sed.1_RNA|WDR92_uc002sef.1_Missense_Mutation_p.L268M|WDR92_uc002seg.1_Missense_Mutation_p.L167M NM_138458 NP_612467 Q96MX6 WDR92_HUMAN monad 268 WD 5. apoptosis|histone lysine methylation methylated histone residue binding 0 TTCTGCGGCAGGTGTCGGACC 0.507 24 40 --- --- --- --- PASS CD207 50489 broad.mit.edu 37 2 71058916 71058916 + Missense_Mutation SNP T C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:71058916T>C uc002shg.2 - 5 799 c.752A>G c.(751-753)TAC>TGC p.Y251C NM_015717 NP_056532 Q9UJ71 CLC4K_HUMAN CD207 antigen, langerin 251 C-type lectin.|Extracellular (Potential). defense response to virus endocytic vesicle|integral to membrane mannose binding ovary(1)|lung(1) 2 GCCAATCCAGTAGATGAGTCC 0.537 59 154 --- --- --- --- PASS AFF3 3899 broad.mit.edu 37 2 100194833 100194833 + Silent SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:100194833G>A uc002tag.2 - 17 3110 c.2874C>T c.(2872-2874)AAC>AAT p.N958N AFF3_uc002taf.2_Silent_p.N983N NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 958 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 CCCTGTGGCCGTTGGAGCCTG 0.493 103 354 --- --- --- --- PASS MRPS9 64965 broad.mit.edu 37 2 105654683 105654683 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:105654683C>A uc002tcn.3 + 1 201 c.133C>A c.(133-135)CAG>AAG p.Q45K NM_182640 NP_872578 P82933 RT09_HUMAN mitochondrial ribosomal protein S9 precursor 45 DNA damage response, detection of DNA damage|translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome 0 TGTCAGATCCCAGGTAAGGCC 0.622 10 24 --- --- --- --- PASS GTDC1 79712 broad.mit.edu 37 2 144764848 144764848 + Missense_Mutation SNP T G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:144764848T>G uc002tvp.2 - 7 1055 c.776A>C c.(775-777)CAT>CCT p.H259P GTDC1_uc002tvo.2_Missense_Mutation_p.H259P|GTDC1_uc002tvq.2_Intron|GTDC1_uc002tvr.2_Missense_Mutation_p.H259P|GTDC1_uc010fnn.2_Missense_Mutation_p.H259P|GTDC1_uc002tvs.2_Missense_Mutation_p.H227P|GTDC1_uc010fno.2_Missense_Mutation_p.H130P|GTDC1_uc002tvt.1_Missense_Mutation_p.H259P NM_001006636 NP_001006637 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 259 biosynthetic process transferase activity, transferring glycosyl groups ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.0914) ATTTTCACCATGATGAGAGCT 0.413 65 117 --- --- --- --- PASS PRPF40A 55660 broad.mit.edu 37 2 153519149 153519149 + Nonsense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:153519149G>A uc002tyh.3 - 21 2312 c.2290C>T c.(2290-2292)CGA>TGA p.R764* PRPF40A_uc002tyg.3_Nonsense_Mutation_p.R220*|PRPF40A_uc010zcd.1_Nonsense_Mutation_p.R715* NM_017892 NP_060362 O75400 PR40A_HUMAN formin binding protein 3 791 FF 5. mRNA processing|RNA splicing nuclear matrix|nuclear speck protein binding 0 TTAAATATTCGTTTTCTTTCA 0.264 9 20 --- --- --- --- PASS SCN7A 6332 broad.mit.edu 37 2 167327160 167327160 + Missense_Mutation SNP G C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:167327160G>C uc002udu.1 - 6 756 c.629C>G c.(628-630)ACT>AGT p.T210S SCN7A_uc010fpm.1_RNA NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 210 Helical; Voltage-sensor; Name=S4 of repeat I; (By similarity). muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 AATTCTCAAAGTTCTTGCAGT 0.299 23 31 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168103567 168103567 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:168103567G>T uc002udx.2 + 8 5683 c.5665G>T c.(5665-5667)GAT>TAT p.D1889Y XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D1714Y|XIRP2_uc010fpq.2_Missense_Mutation_p.D1667Y|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1714 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TAAACAGCCTGATGCCATCCC 0.368 51 68 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168103615 168103615 + Missense_Mutation SNP G C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:168103615G>C uc002udx.2 + 8 5731 c.5713G>C c.(5713-5715)GCT>CCT p.A1905P XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.A1730P|XIRP2_uc010fpq.2_Missense_Mutation_p.A1683P|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1730 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CCTTGAAAAAGCTACAAATAC 0.368 35 56 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179400408 179400408 + Missense_Mutation SNP A G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:179400408A>G uc010zfg.1 - 307 93454 c.93230T>C c.(93229-93231)ATT>ACT p.I31077T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I24772T|TTN_uc010zfi.1_Missense_Mutation_p.I24705T|TTN_uc010zfj.1_Missense_Mutation_p.I24580T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32004 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) TCTTGTGACAATAACTTGGTA 0.423 122 156 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179414471 179414471 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:179414471G>A uc010zfg.1 - 287 84498 c.84274C>T c.(84274-84276)CGG>TGG p.R28092W uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R21787W|TTN_uc010zfi.1_Missense_Mutation_p.R21720W|TTN_uc010zfj.1_Missense_Mutation_p.R21595W NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29019 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) CTGGTTTCCCGTTTTTCAATG 0.438 57 67 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179500272 179500272 + Missense_Mutation SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:179500272C>T uc010zfg.1 - 176 34299 c.34075G>A c.(34075-34077)GGA>AGA p.G11359R TTN_uc010zfh.1_Missense_Mutation_p.G5054R|TTN_uc010zfi.1_Missense_Mutation_p.G4987R|TTN_uc010zfj.1_Missense_Mutation_p.G4862R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12286 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) AGATGATTTCCATCTCTCAGT 0.378 5 10 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179581922 179581922 + Silent SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:179581922C>A uc010zfg.1 - 85 22031 c.21807G>T c.(21805-21807)CTG>CTT p.L7269L TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.L3930L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8196 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) TGAGAACTGTCAGAGTGGCAG 0.493 49 59 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179599249 179599249 + Missense_Mutation SNP G C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:179599249G>C uc010zfg.1 - 49 11794 c.11570C>G c.(11569-11571)ACT>AGT p.T3857S TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T518S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4784 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) AAATGGTCCAGTGCCTGAGAC 0.388 94 129 --- --- --- --- PASS CCDC141 285025 broad.mit.edu 37 2 179733888 179733888 + Missense_Mutation SNP C G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:179733888C>G uc002unf.1 - 5 682 c.625G>C c.(625-627)GAT>CAT p.D209H NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 209 protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TACAGGATATCCTCGTAATCC 0.403 88 137 --- --- --- --- PASS ZNF385B 151126 broad.mit.edu 37 2 180383331 180383331 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:180383331G>T uc002unn.3 - 5 1035 c.431C>A c.(430-432)ACA>AAA p.T144K ZNF385B_uc002unj.2_Missense_Mutation_p.T42K|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Missense_Mutation_p.T41K|ZNF385B_uc002unm.2_Missense_Mutation_p.T68K NM_152520 NP_689733 Q569K4 Z385B_HUMAN zinc finger protein 385B isoform 1 144 nucleus nucleic acid binding|zinc ion binding ovary(1) 1 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) TACTCCAAATGTATGGTTAAT 0.343 71 143 --- --- --- --- PASS FAM171B 165215 broad.mit.edu 37 2 187627521 187627521 + Nonsense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:187627521G>T uc002ups.2 + 8 2564 c.2452G>T c.(2452-2454)GAG>TAG p.E818* FAM171B_uc002upr.1_Nonsense_Mutation_p.E785*|FAM171B_uc002upt.2_Nonsense_Mutation_p.E287* NM_177454 NP_803237 Q6P995 F171B_HUMAN KIAA1946 818 Cytoplasmic (Potential). integral to membrane DNA binding ovary(6)|breast(3)|central_nervous_system(1) 10 GAAGAAGCGAGAGGAACGCCC 0.438 33 40 --- --- --- --- PASS COL5A2 1290 broad.mit.edu 37 2 189899824 189899824 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:189899824G>A uc002uqk.2 - 53 4446 c.4171C>T c.(4171-4173)CGC>TGC p.R1391C COL5A2_uc010frx.2_Missense_Mutation_p.R967C NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 1391 Fibrillar collagen NC1. axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GATAAAAGGCGCAAAAAAGTC 0.398 97 76 --- --- --- --- PASS ICOS 29851 broad.mit.edu 37 2 204822598 204822598 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:204822598G>A uc002vam.2 + 4 645 c.578G>A c.(577-579)AGA>AAA p.R193K ICOS_uc010zip.1_Missense_Mutation_p.R193K|ICOS_uc010fua.2_Intron NM_012092 NP_036224 Q9Y6W8 ICOS_HUMAN inducible T-cell co-stimulator precursor 193 Cytoplasmic (Potential). immune response|T cell costimulation extracellular region 0 AAAAAATCTAGACTCACAGGT 0.388 59 71 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211465305 211465305 + Missense_Mutation SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:211465305C>T uc002vee.3 + 15 1708 c.1576C>T c.(1576-1578)CTC>TTC p.L526F CPS1_uc010fur.2_Missense_Mutation_p.L532F|CPS1_uc010fus.2_Missense_Mutation_p.L75F NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 526 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GAGAGGTGTGCTCAAGGAATA 0.363 81 125 --- --- --- --- PASS ABCA12 26154 broad.mit.edu 37 2 215862486 215862486 + Missense_Mutation SNP G C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:215862486G>C uc002vew.2 - 23 3447 c.3227C>G c.(3226-3228)GCC>GGC p.A1076G ABCA12_uc002vev.2_Missense_Mutation_p.A758G|ABCA12_uc010zjn.1_Missense_Mutation_p.A3G NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 1076 Helical; (Potential). cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TACAACCCAGGCAACCATAAG 0.363 38 44 --- --- --- --- PASS FN1 2335 broad.mit.edu 37 2 216241299 216241299 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:216241299C>A uc002vfa.2 - 36 6075 c.5809G>T c.(5809-5811)GTT>TTT p.V1937F FN1_uc002vfb.2_Missense_Mutation_p.V1756F|FN1_uc002vfc.2_Missense_Mutation_p.V1756F|FN1_uc002vfd.2_Missense_Mutation_p.V1937F|FN1_uc002vfe.2_Missense_Mutation_p.V1846F|FN1_uc002vff.2_Missense_Mutation_p.V1846F|FN1_uc002vfg.2_Missense_Mutation_p.V1756F|FN1_uc002vfh.2_Missense_Mutation_p.V1756F|FN1_uc002vfi.2_Missense_Mutation_p.V1937F|FN1_uc002vfj.2_Missense_Mutation_p.V1847F|FN1_uc002vez.2_Missense_Mutation_p.V131F|FN1_uc010zjp.1_Missense_Mutation_p.V474F|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA|FN1_uc010fvc.1_Missense_Mutation_p.V299F|FN1_uc010fvd.1_Intron NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACGGCATCAACTTGGAAGCCA 0.512 28 39 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228882652 228882652 + Missense_Mutation SNP T A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:228882652T>A uc002vpq.2 - 7 2965 c.2918A>T c.(2917-2919)AAC>ATC p.N973I SPHKAP_uc002vpp.2_Missense_Mutation_p.N973I|SPHKAP_uc010zlx.1_Missense_Mutation_p.N973I NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 973 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GCAGGGTACGTTGGGTGTCAT 0.522 48 75 --- --- --- --- PASS DNER 92737 broad.mit.edu 37 2 230253096 230253096 + Missense_Mutation SNP A C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:230253096A>C uc002vpv.2 - 11 1887 c.1740T>G c.(1738-1740)ATT>ATG p.I580M NM_139072 NP_620711 Q8NFT8 DNER_HUMAN delta-notch-like EGF repeat-containing 580 Extracellular (Potential). central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity lung(5)|ovary(2)|skin(1) 8 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) CATTTATGTCAATGTCGCACT 0.502 109 170 --- --- --- --- PASS USP40 55230 broad.mit.edu 37 2 234468512 234468512 + Missense_Mutation SNP T C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:234468512T>C uc010zmu.1 - 4 444 c.326A>G c.(325-327)CAG>CGG p.Q109R USP40_uc010zmr.1_Missense_Mutation_p.Q121R Q9NVE5 UBP40_HUMAN SubName: Full=cDNA FLJ56772, highly similar to Ubiquitin carboxyl-terminal hydrolase 40 (EC 3.1.2.15); 109 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1)|breast(1) 3 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) TGCAGCTTCCTGGTCTAAGAG 0.438 14 18 --- --- --- --- PASS COL6A3 1293 broad.mit.edu 37 2 238283145 238283145 + Missense_Mutation SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:238283145C>T uc002vwl.2 - 8 3874 c.3589G>A c.(3589-3591)GTC>ATC p.V1197I COL6A3_uc002vwo.2_Missense_Mutation_p.V991I|COL6A3_uc010znj.1_Missense_Mutation_p.V590I|COL6A3_uc002vwq.2_Missense_Mutation_p.V991I|COL6A3_uc002vwr.2_Missense_Mutation_p.V790I NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1197 Nonhelical region.|VWFA 6. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACCTGTTGGACGGTCCCCAGC 0.622 49 69 --- --- --- --- PASS KIF1A 547 broad.mit.edu 37 2 241658532 241658532 + Missense_Mutation SNP C G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:241658532C>G uc002vzy.2 - 45 4948 c.4802G>C c.(4801-4803)CGC>CCC p.R1601P KIF1A_uc010fzk.2_Missense_Mutation_p.R1702P|KIF1A_uc002vzw.2_Missense_Mutation_p.R262P|KIF1A_uc002vzx.2_Missense_Mutation_p.R328P NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 1601 PH. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GGCATAGGGGCGCCGCACCAC 0.627 75 95 --- --- --- --- PASS ANKRD28 23243 broad.mit.edu 37 3 15762485 15762485 + Silent SNP T C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr3:15762485T>C uc003caj.1 - 8 986 c.843A>G c.(841-843)GCA>GCG p.A281A ANKRD28_uc003cai.1_Silent_p.A127A|ANKRD28_uc011avz.1_Silent_p.A127A|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Silent_p.A311A|ANKRD28_uc003cam.2_Silent_p.A314A NM_015199 NP_056014 O15084 ANR28_HUMAN ankyrin repeat domain 28 281 ANK 8. nucleoplasm protein binding breast(1) 1 CATGTGTTGATGCAGCAGCAA 0.363 96 14 --- --- --- --- PASS SCAP 22937 broad.mit.edu 37 3 47468674 47468674 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr3:47468674G>A uc003crh.1 - 6 965 c.710C>T c.(709-711)ACC>ATC p.T237I SCAP_uc011baz.1_Intron|SCAP_uc003crg.2_Intron NM_012235 NP_036367 Q12770 SCAP_HUMAN SREBF chaperone protein 237 Lumenal (By similarity). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) GAAGACCAGGGTGATGGTGTA 0.527 105 15 --- --- --- --- PASS RNF123 63891 broad.mit.edu 37 3 49742178 49742178 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr3:49742178G>T uc003cxh.2 + 22 2034 c.1948G>T c.(1948-1950)GCT>TCT p.A650S RNF123_uc010hky.1_Missense_Mutation_p.A312S|RNF123_uc003cxi.2_RNA NM_022064 NP_071347 Q5XPI4 RN123_HUMAN ring finger protein 123 650 cytoplasm ligase activity|protein binding|zinc ion binding kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) GCCAGCCCCAGCTATGGCCCA 0.592 3 0 --- --- --- --- PASS UBA3 9039 broad.mit.edu 37 3 69111294 69111294 + Missense_Mutation SNP T A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr3:69111294T>A uc003dno.2 - 10 750 c.730A>T c.(730-732)AGG>TGG p.R244W UBA3_uc003dnq.2_Missense_Mutation_p.R230W|UBA3_uc011bfy.1_Missense_Mutation_p.R67W|UBA3_uc011bfz.1_Missense_Mutation_p.R67W NM_003968 NP_003959 Q8TBC4 UBA3_HUMAN ubiquitin-activating enzyme 3 isoform 1 244 Interaction with NAE1. protein neddylation|proteolysis nucleus acid-amino acid ligase activity|ATP binding|protein heterodimerization activity ovary(1) 1 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241) TCTGGTAGCCTGGGCATAGAT 0.363 72 24 --- --- --- --- PASS STX19 415117 broad.mit.edu 37 3 93734029 93734029 + Missense_Mutation SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr3:93734029C>T uc003drh.1 - 2 342 c.85G>A c.(85-87)GAG>AAG p.E29K ARL13B_uc003drc.2_Intron|ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_Intron|ARL13B_uc003drf.2_Intron|ARL13B_uc003drg.2_Intron NM_001001850 NP_001001850 Q8N4C7 STX19_HUMAN syntaxin 19 29 intracellular protein transport|vesicle-mediated transport membrane SNAP receptor activity 0 CCTTGTTCCTCTGTTTCTGTA 0.393 102 116 --- --- --- --- PASS CLSTN2 64084 broad.mit.edu 37 3 140178441 140178441 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr3:140178441G>T uc003etn.2 + 7 1242 c.1052G>T c.(1051-1053)AGC>ATC p.S351I CLSTN2_uc003etm.2_Missense_Mutation_p.S351I NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 351 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 CTGGTGGACAGCAGTGAGATG 0.562 HNSCC(16;0.037) 11 296 --- --- --- --- PASS ACPL2 92370 broad.mit.edu 37 3 141011380 141011380 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr3:141011380G>A uc003etu.2 + 8 1075 c.776G>A c.(775-777)CGT>CAT p.R259H ACPL2_uc003etv.2_Missense_Mutation_p.R259H|ACPL2_uc011bna.1_Missense_Mutation_p.R221H|ACPL2_uc011bnb.1_Missense_Mutation_p.R242H NM_152282 NP_689495 Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 precursor 259 extracellular region acid phosphatase activity skin(1) 1 AAGGAGCAGCGTCGTCAGTAC 0.527 7 218 --- --- --- --- PASS TM4SF4 7104 broad.mit.edu 37 3 149216547 149216547 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr3:149216547G>A uc003exd.1 + 4 671 c.440G>A c.(439-441)CGA>CAA p.R147Q NM_004617 NP_004608 P48230 T4S4_HUMAN transmembrane 4 superfamily member 4 147 Extracellular (Potential). integral to membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) AACAAGTGCCGAGAGCCTCTC 0.483 14 229 --- --- --- --- PASS SELT 51714 broad.mit.edu 37 3 150321258 150321258 + Missense_Mutation SNP A T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr3:150321258A>T uc011bnx.1 + 1 193 c.109A>T c.(109-111)ACG>TCG p.T37S SERP1_uc003exz.2_5'Flank|uc003eye.1_5'Flank NM_016275 NP_057359 P62341 SELT_HUMAN selenoprotein T precursor 37 cell redox homeostasis|selenocysteine incorporation selenium binding 0 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GCAGTACGCCACGGGGCCGCT 0.667 27 33 --- --- --- --- PASS PLCH1 23007 broad.mit.edu 37 3 155282833 155282833 + Missense_Mutation SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr3:155282833C>T uc011bok.1 - 7 1181 c.904G>A c.(904-906)GAT>AAT p.D302N PLCH1_uc011boj.1_Missense_Mutation_p.D302N|PLCH1_uc011bol.1_Missense_Mutation_p.D284N NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 302 PI-PLC X-box. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AGGGGCTGATCCATGTCTTGG 0.463 35 214 --- --- --- --- PASS ARPM1 84517 broad.mit.edu 37 3 169485535 169485535 + Silent SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr3:169485535G>T uc003ffs.1 - 2 1179 c.804C>A c.(802-804)GCC>GCA p.A268A TERC_uc003ffr.1_5'Flank NM_032487 NP_115876 Q9BYD9 ARPM1_HUMAN actin related protein M1 268 cytoplasm|cytoskeleton 0 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) CAATGCCAGGGGCCTCAAGGT 0.468 195 251 --- --- --- --- PASS CCDC39 339829 broad.mit.edu 37 3 180366077 180366077 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr3:180366077G>T uc010hxe.2 - 10 1353 c.1238C>A c.(1237-1239)ACA>AAA p.T413K CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 413 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TTCTTTCATTGTCTCAGTCTG 0.353 196 207 --- --- --- --- PASS ZNF518B 85460 broad.mit.edu 37 4 10446229 10446229 + Missense_Mutation SNP T C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr4:10446229T>C uc003gmn.2 - 3 2211 c.1724A>G c.(1723-1725)AAC>AGC p.N575S NM_053042 NP_444270 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 575 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 CTCTGTCTGGTTATCTTCCTG 0.373 101 142 --- --- --- --- PASS GBA3 57733 broad.mit.edu 37 4 22749453 22749453 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr4:22749453C>A uc003gqp.3 + 3 912 c.821C>A c.(820-822)TCC>TAC p.S274Y GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.S275Y NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 274 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 CAGATTGCCTCCATGAGTCAA 0.408 18 31 --- --- --- --- PASS BEND4 389206 broad.mit.edu 37 4 42145884 42145884 + Silent SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr4:42145884G>A uc003gwn.2 - 3 1195 c.615C>T c.(613-615)GGC>GGT p.G205G BEND4_uc003gwm.2_Silent_p.G205G|BEND4_uc011byy.1_Silent_p.G205G NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN BEN domain containing 4 isoform a 205 0 TGTAACTTGAGCCTTCCTGCT 0.468 16 32 --- --- --- --- PASS ATP8A1 10396 broad.mit.edu 37 4 42576678 42576678 + Missense_Mutation SNP A T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr4:42576678A>T uc003gwr.2 - 14 1485 c.1253T>A c.(1252-1254)GTA>GAA p.V418E ATP8A1_uc003gws.2_Missense_Mutation_p.V418E|ATP8A1_uc011byz.1_Missense_Mutation_p.V418E NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), 418 Cytoplasmic (Potential). ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity skin(2)|central_nervous_system(1) 3 Phosphatidylserine(DB00144) AAACTGCATTACATTGCATGT 0.308 44 46 --- --- --- --- PASS KCTD8 386617 broad.mit.edu 37 4 44177251 44177251 + Silent SNP T A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr4:44177251T>A uc003gwu.2 - 2 1262 c.978A>T c.(976-978)ATA>ATT p.I326I NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 326 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 TAGGTGATACTATTTTCTGAG 0.348 HNSCC(17;0.042) 35 53 --- --- --- --- PASS EPHA5 2044 broad.mit.edu 37 4 66230755 66230755 + Missense_Mutation SNP A G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr4:66230755A>G uc003hcy.2 - 12 2409 c.2216T>C c.(2215-2217)TTA>TCA p.L739S EPHA5_uc003hcx.2_Missense_Mutation_p.L671S|EPHA5_uc003hcz.2_Missense_Mutation_p.L717S|EPHA5_uc011cah.1_Missense_Mutation_p.L740S|EPHA5_uc011cai.1_Missense_Mutation_p.L718S|EPHA5_uc003hda.2_Missense_Mutation_p.L740S NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 739 Cytoplasmic (Potential).|Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 CACACCTTCTAAATGGATGAT 0.358 TSP Lung(17;0.13) 100 131 --- --- --- --- PASS CSN3 1448 broad.mit.edu 37 4 71115032 71115032 + Silent SNP T C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr4:71115032T>C uc003hfe.3 + 4 463 c.405T>C c.(403-405)AAT>AAC p.N135N NM_005212 NP_005203 P07498 CASK_HUMAN casein kappa precursor 135 extracellular region protein binding ovary(2)|kidney(1)|central_nervous_system(1) 4 CTACCATCAATACCATTGCTA 0.483 33 49 --- --- --- --- PASS AMTN 401138 broad.mit.edu 37 4 71396799 71396799 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr4:71396799G>T uc003hfk.1 + 8 490 c.401G>T c.(400-402)GGA>GTA p.G134V AMTN_uc010ihy.1_Missense_Mutation_p.G133V NM_212557 NP_997722 Q6UX39 AMTN_HUMAN amelotin precursor 134 biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth basal lamina|cell-cell junction large_intestine(1)|central_nervous_system(1) 2 Lung(101;0.235) TTGTTCCCGGGAGGCATCCTG 0.512 25 31 --- --- --- --- PASS GC 2638 broad.mit.edu 37 4 72622592 72622592 + Missense_Mutation SNP T C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr4:72622592T>C uc003hge.2 - 8 1024 c.871A>G c.(871-873)ACA>GCA p.T291A GC_uc003hgd.2_Missense_Mutation_p.T169A|GC_uc010iie.2_Missense_Mutation_p.T291A|GC_uc010iif.2_Missense_Mutation_p.T310A NM_000583 NP_000574 P02774 VTDB_HUMAN vitamin D-binding protein precursor 291 Albumin 2. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) GAATTCTTTGTGGATAAATTG 0.393 46 61 --- --- --- --- PASS FRAS1 80144 broad.mit.edu 37 4 79394605 79394605 + Missense_Mutation SNP G C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr4:79394605G>C uc003hlb.2 + 53 7976 c.7536G>C c.(7534-7536)TTG>TTC p.L2512F NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2511 CSPG 12.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 ATGTGAACTTGGGGTTGATTC 0.418 123 236 --- --- --- --- PASS FRAS1 80144 broad.mit.edu 37 4 79394606 79394606 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr4:79394606G>T uc003hlb.2 + 53 7977 c.7537G>T c.(7537-7539)GGG>TGG p.G2513W NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2512 CSPG 12.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TGTGAACTTGGGGTTGATTCG 0.418 126 234 --- --- --- --- PASS GPRIN3 285513 broad.mit.edu 37 4 90170412 90170412 + Missense_Mutation SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr4:90170412C>T uc003hsm.1 - 2 1369 c.850G>A c.(850-852)GTG>ATG p.V284M NM_198281 NP_938022 Q6ZVF9 GRIN3_HUMAN G protein-regulated inducer of neurite outgrowth 284 ovary(3) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) GGCAGCGGCACCTTCTCTGGA 0.567 108 152 --- --- --- --- PASS PDLIM5 10611 broad.mit.edu 37 4 95497089 95497089 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr4:95497089G>A uc003hti.2 + 5 765 c.614G>A c.(613-615)CGG>CAG p.R205Q PDLIM5_uc003htf.2_Intron|PDLIM5_uc003htg.2_Intron|PDLIM5_uc011cdx.1_Intron|PDLIM5_uc003hth.2_Intron|PDLIM5_uc003htj.2_Intron|PDLIM5_uc003htk.2_Intron|PDLIM5_uc011cdy.1_Missense_Mutation_p.R83Q NM_006457 NP_006448 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 isoform a 205 regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding ovary(1)|skin(1) 2 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) AATGTCCCACGGCAGCCCACA 0.537 41 67 --- --- --- --- PASS PDHA2 5161 broad.mit.edu 37 4 96762238 96762238 + Missense_Mutation SNP G T T rs28935187 TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr4:96762238G>T uc003htr.3 + 1 1000 c.937G>T c.(937-939)GAT>TAT p.D313Y NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 313 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) AAGTAAGAGGGATCCTATAAT 0.418 46 65 --- --- --- --- PASS NDST4 64579 broad.mit.edu 37 4 115997243 115997243 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr4:115997243C>A uc003ibu.2 - 2 1629 c.950G>T c.(949-951)GGA>GTA p.G317V NDST4_uc010imw.2_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 317 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity p.G317R(1) skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CATCCTTGTTCCCTCTTTCCC 0.363 85 89 --- --- --- --- PASS SPCS3 60559 broad.mit.edu 37 4 177248312 177248312 + Splice_Site SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr4:177248312G>T uc003iur.3 + 4 433 c.295_splice c.e4-1 p.A99_splice NM_021928 NP_068747 P61009 SPCS3_HUMAN signal peptidase complex subunit 3 energy reserve metabolic process|regulation of insulin secretion|signal peptide processing integral to membrane|microsome|signal peptidase complex peptidase activity ovary(1) 1 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319) TTTTAATATAGGCTCTGAACC 0.299 11 11 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19612679 19612679 + Missense_Mutation SNP G C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr5:19612679G>C uc003jgc.2 - 5 1052 c.675C>G c.(673-675)GAC>GAG p.D225E CDH18_uc003jgd.2_Missense_Mutation_p.D225E|CDH18_uc011cnm.1_Missense_Mutation_p.D225E NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 225 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) TGGCTTCTCTGTCCATGTTAT 0.373 43 55 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26890021 26890021 + Missense_Mutation SNP A T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr5:26890021A>T uc003jgs.1 - 9 1605 c.1436T>A c.(1435-1437)CTA>CAA p.L479Q CDH9_uc011cnv.1_Missense_Mutation_p.L72Q NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 479 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 ATTTATATCTAGAATTCTGAT 0.358 64 112 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26916006 26916006 + Silent SNP A G G rs149377000 TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr5:26916006A>G uc003jgs.1 - 3 424 c.255T>C c.(253-255)GAT>GAC p.D85D CDH9_uc010iug.2_Silent_p.D85D NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 85 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 TTAAATTTCCATCTCCTTTAT 0.338 81 103 --- --- --- --- PASS CDH6 1004 broad.mit.edu 37 5 31294255 31294255 + Missense_Mutation SNP G C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr5:31294255G>C uc003jhe.1 + 3 741 c.415G>C c.(415-417)GTG>CTG p.V139L CDH6_uc003jhd.1_Missense_Mutation_p.V139L NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 139 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 AGGGAGACCCGTGGAGCCCGA 0.478 122 141 --- --- --- --- PASS RXFP3 51289 broad.mit.edu 37 5 33937805 33937805 + Missense_Mutation SNP A T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr5:33937805A>T uc003jic.1 + 1 1317 c.960A>T c.(958-960)AGA>AGT p.R320S NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 320 Cytoplasmic (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 GCGCCCGGAGACTGTCGAAGG 0.657 13 19 --- --- --- --- PASS SLC45A2 51151 broad.mit.edu 37 5 33984499 33984499 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr5:33984499C>A uc003jid.2 - 1 282 c.190G>T c.(190-192)GGT>TGT p.G64C SLC45A2_uc003jie.2_Missense_Mutation_p.G64C|SLC45A2_uc003jif.3_Missense_Mutation_p.G64C|SLC45A2_uc011coe.1_Missense_Mutation_p.G64C NM_016180 NP_057264 Q9UMX9 S45A2_HUMAN membrane-associated transporter protein isoform 64 Helical; Name=1; (Potential). melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 CTGGGCAGACCTACGCTGAGC 0.617 23 22 --- --- --- --- PASS UGT3A1 133688 broad.mit.edu 37 5 35954499 35954499 + Silent SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr5:35954499G>A uc003jjv.1 - 7 1534 c.1377C>T c.(1375-1377)ATC>ATT p.I459I UGT3A1_uc003jjw.1_RNA NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 459 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGATGTGGTCGATCCAGCCCA 0.602 21 31 --- --- --- --- PASS LMBRD2 92255 broad.mit.edu 37 5 36136480 36136480 + Silent SNP C G G rs144023598 byFrequency TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr5:36136480C>G uc003jkb.1 - 6 1093 c.678G>C c.(676-678)ACG>ACC p.T226T NM_001007527 NP_001007528 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 226 Cytoplasmic (Potential). integral to membrane 0 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCTTAAAATACGTTTTCATAA 0.413 177 254 --- --- --- --- PASS NUP155 9631 broad.mit.edu 37 5 37350275 37350275 + Silent SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr5:37350275C>A uc003jku.1 - 7 934 c.816G>T c.(814-816)ACG>ACT p.T272T NUP155_uc003jkt.1_Silent_p.T213T|NUP155_uc010iuz.1_Silent_p.T272T NM_153485 NP_705618 O75694 NU155_HUMAN nucleoporin 155kDa isoform 1 272 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity ovary(1) 1 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTTCTGAGAACGTGAATTGTA 0.358 75 92 --- --- --- --- PASS RICTOR 253260 broad.mit.edu 37 5 38962427 38962427 + Nonsense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr5:38962427G>A uc003jlp.2 - 19 1729 c.1705C>T c.(1705-1707)CAG>TAG p.Q569* RICTOR_uc003jlo.2_Nonsense_Mutation_p.Q569*|RICTOR_uc010ivf.2_Nonsense_Mutation_p.Q284* NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 569 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) CTGTGTAACTGTTCATCTTTA 0.239 25 39 --- --- --- --- PASS CARD6 84674 broad.mit.edu 37 5 40854526 40854526 + Missense_Mutation SNP A T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr5:40854526A>T uc003jmg.2 + 3 3167 c.3092A>T c.(3091-3093)CAG>CTG p.Q1031L NM_032587 NP_115976 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 1031 apoptosis|regulation of apoptosis intracellular ovary(2)|skin(2)|lung(1) 5 AAAGCAGGGCAGAAGAGGGGA 0.488 136 193 --- --- --- --- PASS OXCT1 5019 broad.mit.edu 37 5 41853522 41853522 + Missense_Mutation SNP T A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr5:41853522T>A uc003jmn.2 - 4 744 c.413A>T c.(412-414)CAG>CTG p.Q138L NM_000436 NP_000427 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 precursor 138 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity ovary(2)|large_intestine(1) 3 Succinic acid(DB00139) TTTTCTCACCTGTGGTGTCAG 0.363 59 71 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45303823 45303823 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr5:45303823C>A uc003jok.2 - 6 1521 c.1496G>T c.(1495-1497)GGA>GTA p.G499V NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 499 cAMP.|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 GATATAATCTCCAGGTTGAAA 0.408 91 128 --- --- --- --- PASS CETN3 1070 broad.mit.edu 37 5 89703555 89703555 + Silent SNP A G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr5:89703555A>G uc003kjo.2 - 2 239 c.114T>C c.(112-114)GAT>GAC p.D38D NM_004365 NP_004356 O15182 CETN3_HUMAN centrin 3 38 1 (Potential).|EF-hand 1. cell division|centrosome cycle|mitosis centriole calcium ion binding 0 all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23) CTTTGTCTGTATCAAATAGTT 0.294 45 10 --- --- --- --- PASS C5orf20 140947 broad.mit.edu 37 5 134782580 134782580 + Missense_Mutation SNP G C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr5:134782580G>C uc003lav.2 - 1 459 c.219C>G c.(217-219)AAC>AAG p.N73K NM_130848 NP_570900 Q8TF63 DCNP1_HUMAN dendritic cell nuclear protein 1 73 nucleus 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCAAGGTTTTGTTCCTCCCTG 0.602 27 35 --- --- --- --- PASS WDR55 54853 broad.mit.edu 37 5 140048089 140048089 + Splice_Site SNP T C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr5:140048089T>C uc003lgr.3 + 3 494 c.380_splice c.e3+2 p.G127_splice WDR55_uc011czl.1_5'Flank NM_017706 NP_060176 Q9H6Y2 WDR55_HUMAN WD repeat domain 55 rRNA processing cytoplasm|nucleolus ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCTCATGGGTAAGGAGAGCA 0.512 86 93 --- --- --- --- PASS PCDH12 51294 broad.mit.edu 37 5 141334818 141334818 + Missense_Mutation SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr5:141334818C>T uc003llx.2 - 1 3810 c.2599G>A c.(2599-2601)GAG>AAG p.E867K NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 867 Cytoplasmic (Potential). neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCTGGGGCTCGGGAAGGTTC 0.652 41 44 --- --- --- --- PASS ANXA6 309 broad.mit.edu 37 5 150502573 150502573 + Splice_Site SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr5:150502573C>T uc003ltl.1 - 16 1291 c.1139_splice c.e16-1 p.G380_splice ANXA6_uc011dcp.1_Splice_Site_p.G348_splice|ANXA6_uc003ltm.1_Splice_Site_p.G380_splice|ANXA6_uc003ltn.1_Splice_Site_p.G173_splice|ANXA6_uc003lto.1_Intron NM_001155 NP_001146 P08133 ANXA6_HUMAN annexin VI isoform 1 melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding 0 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCGTCAGTCCCTGAGTCACCA 0.567 82 85 --- --- --- --- PASS HAVCR2 84868 broad.mit.edu 37 5 156535959 156535959 + Silent SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr5:156535959C>A uc003lwk.1 - 1 180 c.36G>T c.(34-36)CTG>CTT p.L12L HAVCR2_uc003lwl.2_Silent_p.L12L NM_032782 NP_116171 Q8TDQ0 HAVR2_HUMAN T cell immunoglobulin mucin 3 precursor 12 integral to membrane 0 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCAGCAGCAGCAGCAGGACAC 0.313 32 33 --- --- --- --- PASS HK3 3101 broad.mit.edu 37 5 176310852 176310852 + Missense_Mutation SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr5:176310852C>T uc003mfa.2 - 15 2064 c.1972G>A c.(1972-1974)GTT>ATT p.V658I HK3_uc003mez.2_Missense_Mutation_p.V214I NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 658 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACAATGGCAACCACATTCAGC 0.587 63 119 --- --- --- --- PASS TMEM170B 100113407 broad.mit.edu 37 6 11565950 11565950 + Missense_Mutation SNP A G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr6:11565950A>G uc010jpa.2 + 2 149 c.149A>G c.(148-150)CAT>CGT p.H50R NM_001100829 NP_001094299 Q5T4T1 T170B_HUMAN transmembrane protein 170B 50 Helical; (Potential). integral to membrane 0 CTGTTTGTCCATGGTGCTGCA 0.443 204 281 --- --- --- --- PASS JARID2 3720 broad.mit.edu 37 6 15511634 15511634 + Splice_Site SNP T A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr6:15511634T>A uc003nbj.2 + 13 3196 c.2952_splice c.e13+2 p.M984_splice JARID2_uc011div.1_Splice_Site_p.M812_splice NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) AACGTCATGGTGCGTCCACTC 0.567 29 33 --- --- --- --- PASS SLC17A3 10786 broad.mit.edu 37 6 25850844 25850844 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr6:25850844C>A uc003nfi.3 - 7 712 c.602G>T c.(601-603)GGG>GTG p.G201V SLC17A3_uc003nfk.3_Missense_Mutation_p.G279V|SLC17A3_uc011djz.1_3'UTR|SLC17A3_uc011dka.1_Missense_Mutation_p.G201V NM_006632 NP_006623 O00476 NPT4_HUMAN solute carrier family 17 (sodium phosphate), 201 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity 0 CTTAGAAGACCCGACCTGAAA 0.423 35 54 --- --- --- --- PASS BTN2A2 10385 broad.mit.edu 37 6 26391044 26391044 + Silent SNP A T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr6:26391044A>T uc003nhq.2 + 7 1052 c.966A>T c.(964-966)ACA>ACT p.T322T BTN2A2_uc011dkf.1_3'UTR|BTN2A2_uc011dkg.1_Silent_p.T228T|BTN2A2_uc003nhr.2_Silent_p.T206T|BTN2A2_uc011dkh.1_Silent_p.T112T|BTN2A2_uc003nhs.2_Silent_p.T322T|BTN2A2_uc003nht.2_Silent_p.T322T|BTN2A2_uc011dki.1_Silent_p.T71T NM_006995 NP_008926 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 isoform a 322 B30.2/SPRY.|Cytoplasmic (Potential). negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane 0 GGAGAAGAACATTCTTACATG 0.493 120 207 --- --- --- --- PASS SCAND3 114821 broad.mit.edu 37 6 28540574 28540574 + Missense_Mutation SNP G C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr6:28540574G>C uc003nlo.2 - 4 3710 c.3092C>G c.(3091-3093)TCT>TGT p.S1031C NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1031 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 caatgaattagattttatata 0.000 39 37 --- --- --- --- PASS TRIM10 10107 broad.mit.edu 37 6 30122115 30122115 + Silent SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr6:30122115G>A uc003npo.3 - 7 1153 c.1077C>T c.(1075-1077)GGC>GGT p.G359G TRIM10_uc003npn.2_Silent_p.G359G NM_006778 NP_006769 Q9UDY6 TRI10_HUMAN tripartite motif-containing 10 isoform 1 359 B30.2/SPRY. cytoplasm zinc ion binding 0 CCCCTGTGATGCCAGTGTGGG 0.627 30 47 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 69666042 69666042 + Nonsense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr6:69666042G>A uc003pev.3 + 7 1770 c.1322G>A c.(1321-1323)TGG>TAG p.W441* BAI3_uc010kak.2_Nonsense_Mutation_p.W441* NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 441 TSP type-1 3.|Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) AGAGGGCCATGGGCAGAAAGC 0.532 32 44 --- --- --- --- PASS RIMS1 22999 broad.mit.edu 37 6 72892798 72892798 + Nonsense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr6:72892798G>T uc003pga.2 + 6 1701 c.1624G>T c.(1624-1626)GAG>TAG p.E542* RIMS1_uc011dyb.1_Nonsense_Mutation_p.E168*|RIMS1_uc003pgc.2_Nonsense_Mutation_p.E168*|RIMS1_uc003pgb.3_Nonsense_Mutation_p.E168* NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 542 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) GTCGACGCCCGAGTACACCAG 0.682 7 4 --- --- --- --- PASS KCNQ5 56479 broad.mit.edu 37 6 73713722 73713722 + Splice_Site SNP G C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr6:73713722G>C uc003pgk.2 + 2 836 c.489_splice c.e2+1 p.L163_splice KCNQ5_uc003pgj.3_Splice_Site_p.L163_splice|KCNQ5_uc011dyh.1_Splice_Site_p.L163_splice|KCNQ5_uc011dyi.1_Splice_Site_p.L163_splice|KCNQ5_uc010kat.2_Splice_Site_p.L163_splice|KCNQ5_uc011dyj.1_Splice_Site_p.L163_splice|KCNQ5_uc011dyk.1_Splice_Site NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) CTTGATCCTGGTAAGTGAAAC 0.353 67 74 --- --- --- --- PASS GABRR1 2569 broad.mit.edu 37 6 89909131 89909131 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr6:89909131C>A uc003pna.2 - 4 753 c.298G>T c.(298-300)GGT>TGT p.G100C GABRR1_uc011dzv.1_Missense_Mutation_p.G77C NM_002042 NP_002033 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 1 100 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|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 pancreas(1) 1 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) ACATCCACACCAACAGGAATG 0.502 34 56 --- --- --- --- PASS UBE2J1 51465 broad.mit.edu 37 6 90053462 90053462 + Missense_Mutation SNP T A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr6:90053462T>A uc010kcb.2 - 3 218 c.45A>T c.(43-45)TTA>TTT p.L15F UBE2J1_uc003pnc.2_Missense_Mutation_p.L15F NM_016021 NP_057105 Q9Y385 UB2J1_HUMAN ubiquitin-conjugating enzyme E2, J1 15 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity 0 all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0139) CTTCTTTCATTAAACGTTTAA 0.308 27 45 --- --- --- --- PASS ASCC3 10973 broad.mit.edu 37 6 101076979 101076979 + Silent SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr6:101076979C>T uc003pqk.2 - 27 4616 c.4287G>A c.(4285-4287)GAG>GAA p.E1429E NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 1429 Helicase ATP-binding 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) CATCCCACTTCTCTGGCGTAG 0.438 54 67 --- --- --- --- PASS CDC40 51362 broad.mit.edu 37 6 110540978 110540978 + Silent SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr6:110540978C>A uc003pua.2 + 12 1270 c.1246C>A c.(1246-1248)CGG>AGG p.R416R NM_015891 NP_056975 O60508 PRP17_HUMAN cell division cycle 40 homolog 416 WD 4. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm 0 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) GGAATATGATCGGCATTTGGG 0.403 4 172 --- --- --- --- PASS HSF2 3298 broad.mit.edu 37 6 122752641 122752641 + Missense_Mutation SNP A C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr6:122752641A>C uc003pyu.2 + 12 1484 c.1297A>C c.(1297-1299)AAA>CAA p.K433Q HSF2_uc003pyv.2_Missense_Mutation_p.K415Q NM_004506 NP_004497 Q03933 HSF2_HUMAN heat shock transcription factor 2 isoform a 433 response to stress|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586) AGAGGGAAGAAAATCTAAATC 0.328 25 31 --- --- --- --- PASS STL 7955 broad.mit.edu 37 6 125233205 125233205 + RNA SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr6:125233205C>A uc003pzq.2 - 7 c.1529G>T NR_026876 Homo sapiens mRNA; cDNA DKFZp451I132 (from clone DKFZp451I132). 0 TTCTTCAAGACTGTATTTCCA 0.338 T ETV6 B-ALL 6 3 --- --- --- --- PASS VNN1 8876 broad.mit.edu 37 6 133013653 133013653 + Silent SNP G C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr6:133013653G>C uc003qdo.2 - 5 917 c.897C>G c.(895-897)CTC>CTG p.L299L NM_004666 NP_004657 O95497 VNN1_HUMAN vanin 1 precursor 299 CN hydrolase. acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress anchored to membrane|integral to membrane|plasma membrane GPI anchor binding|pantetheine hydrolase activity ovary(3) 3 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189) GCGAGAGGAGGAGTTTTCCCT 0.438 36 55 --- --- --- --- PASS ARID1B 57492 broad.mit.edu 37 6 157527307 157527307 + Nonsense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr6:157527307G>T uc003qqn.2 + 20 5130 c.4978G>T c.(4978-4980)GGA>TGA p.G1660* ARID1B_uc003qqo.2_Nonsense_Mutation_p.G1620*|ARID1B_uc003qqp.2_Nonsense_Mutation_p.G1607* NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1665 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CCAGTTGTCTGGATTTCTCGA 0.428 291 438 --- --- --- --- PASS ARID1B 57492 broad.mit.edu 37 6 157527593 157527593 + Missense_Mutation SNP A C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr6:157527593A>C uc003qqn.2 + 20 5416 c.5264A>C c.(5263-5265)GAC>GCC p.D1755A ARID1B_uc003qqo.2_Missense_Mutation_p.D1715A|ARID1B_uc003qqp.2_Missense_Mutation_p.D1702A NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1760 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GCCGCTGCAGACCCAAAGGAG 0.512 70 82 --- --- --- --- PASS T 6862 broad.mit.edu 37 6 166571969 166571969 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr6:166571969G>T uc003quu.1 - 9 1635 c.1142C>A c.(1141-1143)GCG>GAG p.A381E T_uc003qut.1_Missense_Mutation_p.A382E|T_uc003quv.1_Missense_Mutation_p.A323E NM_003181 NP_003172 O15178 BRAC_HUMAN transcription factor T 381 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) TGTGTAGTGCGCGGGGGAGCC 0.711 Chordoma_Familial_Clustering_of 44 39 --- --- --- --- PASS PDGFA 5154 broad.mit.edu 37 7 550620 550620 + Silent SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr7:550620G>A uc003sir.2 - 4 1122 c.279C>T c.(277-279)CCC>CCT p.P93P PDGFA_uc003sis.2_Silent_p.P93P|PDGFA_uc003sit.1_Silent_p.P107P NM_002607 NP_002598 P04085 PDGFA_HUMAN platelet-derived growth factor alpha isoform 1 93 actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity 0 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15) TGCAGACAGCGGGGACAGCTT 0.682 13 19 --- --- --- --- PASS C7orf70 84792 broad.mit.edu 37 7 6370367 6370367 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr7:6370367C>A uc003spu.2 - 2 887 c.419G>T c.(418-420)GGC>GTC p.G140V NM_001037163 NP_001032240 Q7Z4H9 SIPAR_HUMAN hypothetical protein LOC84792 140 nucleus 0 TCCTCTGTGGCCGTCAGTGGC 0.602 34 38 --- --- --- --- PASS NXPH1 30010 broad.mit.edu 37 7 8790773 8790773 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr7:8790773C>A uc003srv.2 + 3 1101 c.190C>A c.(190-192)CGT>AGT p.R64S NXPH1_uc011jxh.1_5'UTR NM_152745 NP_689958 P58417 NXPH1_HUMAN neurexophilin 1 precursor 64 II. extracellular region ovary(1)|central_nervous_system(1) 2 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) ACAGACTTTTCGTGGCAAAGA 0.463 44 52 --- --- --- --- PASS GPNMB 10457 broad.mit.edu 37 7 23309656 23309656 + Missense_Mutation SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr7:23309656C>T uc003swc.2 + 9 1488 c.1327C>T c.(1327-1329)CCT>TCT p.P443S GPNMB_uc003swb.2_Missense_Mutation_p.P431S|GPNMB_uc011jyy.1_Missense_Mutation_p.P385S|GPNMB_uc011jyz.1_Missense_Mutation_p.P332S NM_001005340 NP_001005340 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb isoform a 443 Extracellular (Potential). negative regulation of cell proliferation melanosome ovary(3)|breast(2) 5 GBM - Glioblastoma multiforme(13;0.154) AGTCTGCAGCCCTGTGGATGT 0.582 100 118 --- --- --- --- PASS ABCB4 5244 broad.mit.edu 37 7 87035607 87035607 + Silent SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr7:87035607G>T uc003uiv.1 - 26 3580 c.3504C>A c.(3502-3504)CCC>CCA p.P1168P ABCB4_uc003uiw.1_Silent_p.P1161P|ABCB4_uc003uix.1_Silent_p.P1114P NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 1168 ABC transporter 2.|Cytoplasmic (By similarity). P -> S (in GBD1). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) AACTTACGTGGGGTAACGTCT 0.398 84 132 --- --- --- --- PASS RUNDC3B 154661 broad.mit.edu 37 7 87370837 87370837 + Silent SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr7:87370837C>T uc003ujb.2 + 7 1033 c.622C>T c.(622-624)CTG>TTG p.L208L RUNDC3B_uc011khd.1_Silent_p.L191L|RUNDC3B_uc011khe.1_Silent_p.L191L|RUNDC3B_uc003ujc.2_Silent_p.L191L|RUNDC3B_uc003ujd.2_Silent_p.L113L NM_138290 NP_612147 Q96NL0 RUN3B_HUMAN RUN domain containing 3B isoform a 208 skin(1) 1 Esophageal squamous(14;0.00164) GGGAGAGGGGCTGGATGGCAG 0.264 26 34 --- --- --- --- PASS SPDYE3 441272 broad.mit.edu 37 7 99917560 99917560 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr7:99917560G>A uc003uug.1 + 5 706 c.466G>A c.(466-468)GCT>ACT p.A156T uc011kjm.1_5'Flank NM_001004351 NP_001004351 A6NKU9 SPDE3_HUMAN speedy homolog E3 533 0 CCAGATCCAGGCTTATGACCC 0.617 76 102 --- --- --- --- PASS TRIP6 7205 broad.mit.edu 37 7 100466332 100466332 + Silent SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr7:100466332G>T uc003uww.2 + 4 749 c.579G>T c.(577-579)GGG>GGT p.G193G TRIP6_uc010lhk.1_RNA NM_003302 NP_003293 Q15654 TRIP6_HUMAN thyroid receptor-interacting protein 6 193 focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding central_nervous_system(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) AGGCCTCTGGGCCCCTCCCGG 0.706 8 11 --- --- --- --- PASS CADPS2 93664 broad.mit.edu 37 7 122130267 122130267 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr7:122130267C>A uc010lkp.2 - 11 1883 c.1720G>T c.(1720-1722)GAT>TAT p.D574Y CADPS2_uc003vkg.3_Missense_Mutation_p.D274Y|CADPS2_uc010lkq.2_Missense_Mutation_p.D574Y NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 574 PH. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 TCCTGTTCATCATCACTGGCA 0.388 13 173 --- --- --- --- PASS CPA5 93979 broad.mit.edu 37 7 129986318 129986318 + Translation_Start_Site SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr7:129986318G>T uc010lmd.1 + 4 612 c.-8G>T c.(-10--6)GAGGA>GATGA CPA5_uc003vps.2_Translation_Start_Site|CPA5_uc003vpt.2_Translation_Start_Site|CPA5_uc010lme.1_Translation_Start_Site|CPA5_uc003vpu.1_Translation_Start_Site NM_001127441 NP_001120913 Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 isoform 1 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 Melanoma(18;0.0435) CTCACCAGGAGGAAGAAGCAT 0.632 63 71 --- --- --- --- PASS PLXNA4 91584 broad.mit.edu 37 7 131908396 131908396 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr7:131908396G>T uc003vra.3 - 9 2216 c.1987C>A c.(1987-1989)CTG>ATG p.L663M NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 663 PSI 2.|Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 ACGCAGGACAGGCACCTGGGC 0.537 9 13 --- --- --- --- PASS KLRG2 346689 broad.mit.edu 37 7 139168179 139168179 + Silent SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr7:139168179C>A uc003vvb.2 - 1 279 c.210G>T c.(208-210)CCG>CCT p.P70P KLRG2_uc010lnc.2_Silent_p.P70P NM_198508 NP_940910 A4D1S0 KLRG2_HUMAN killer cell lectin-like receptor subfamily G, 70 Pro-rich. integral to membrane sugar binding central_nervous_system(1) 1 Melanoma(164;0.233) GAGGCGAAGGCGGCTTTTTCT 0.731 16 10 --- --- --- --- PASS WEE2 494551 broad.mit.edu 37 7 141408806 141408806 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr7:141408806C>A uc003vwn.2 + 1 654 c.248C>A c.(247-249)ACT>AAT p.T83N FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron NM_001105558 NP_001099028 P0C1S8 WEE2_HUMAN WEE1 homolog 2 83 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Melanoma(164;0.0171) ATTTTGAGGACTCCAGTGTCA 0.522 146 177 --- --- --- --- PASS OR2A2 442361 broad.mit.edu 37 7 143807527 143807527 + Silent SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr7:143807527G>T uc011ktz.1 + 1 852 c.852G>T c.(850-852)CTG>CTT p.L284L NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, 284 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Melanoma(164;0.0783) ATCCAATGCTGAACCCCCTGA 0.517 127 192 --- --- --- --- PASS DLC1 10395 broad.mit.edu 37 8 12957052 12957052 + Missense_Mutation SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr8:12957052C>T uc003wwm.2 - 9 3238 c.2794G>A c.(2794-2796)GAT>AAT p.D932N DLC1_uc003wwk.1_Missense_Mutation_p.D495N|DLC1_uc003wwl.1_Missense_Mutation_p.D529N|DLC1_uc011kxx.1_Missense_Mutation_p.D421N NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 932 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 GAGTCCGAATCTCCCTCATCA 0.567 67 21 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55537815 55537815 + Missense_Mutation SNP G C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr8:55537815G>C uc003xsd.1 + 4 1521 c.1373G>C c.(1372-1374)AGA>ACA p.R458T RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 458 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AGAAGAGTGAGACAAAAGAAA 0.418 55 76 --- --- --- --- PASS IMPAD1 54928 broad.mit.edu 37 8 57905986 57905986 + Silent SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr8:57905986C>A uc003xte.3 - 1 442 c.159G>T c.(157-159)GCG>GCT p.A53A NM_017813 NP_060283 Q9NX62 IMPA3_HUMAN inositol monophosphatase domain containing 1 53 Poly-Ala. Golgi apparatus|integral to membrane inositol-1(or 4)-monophosphatase activity|metal ion binding ovary(1) 1 all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448) cggccgcggccgcgggccccg 0.587 3 0 --- --- --- --- PASS CLVS1 157807 broad.mit.edu 37 8 62371029 62371029 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr8:62371029C>A uc003xuh.2 + 5 1229 c.905C>A c.(904-906)TCC>TAC p.S302Y CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Intron NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN retinaldehyde binding protein 1-like 1 302 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity skin(4)|ovary(1) 5 ACTCACACATCCTATAATGCA 0.498 41 54 --- --- --- --- PASS XKR9 389668 broad.mit.edu 37 8 71646376 71646376 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr8:71646376G>T uc003xyq.2 + 5 1373 c.839G>T c.(838-840)GGA>GTA p.G280V XKR9_uc010lze.2_Missense_Mutation_p.G280V|XKR9_uc010lzd.2_Missense_Mutation_p.G148V NM_001011720 NP_001011720 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related 280 integral to membrane ovary(1)|skin(1) 2 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) AATATTAAGGGACAGAATACC 0.328 39 61 --- --- --- --- PASS CNGB3 54714 broad.mit.edu 37 8 87683207 87683207 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr8:87683207C>A uc003ydx.2 - 4 504 c.458G>T c.(457-459)GGA>GTA p.G153V CNGB3_uc010maj.2_Missense_Mutation_p.G15V NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 153 Cytoplasmic (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 GGAGAGATCTCCCTCTACCAA 0.493 225 237 --- --- --- --- PASS ZFPM2 23414 broad.mit.edu 37 8 106814722 106814722 + Silent SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr8:106814722G>T uc003ymd.2 + 8 2435 c.2412G>T c.(2410-2412)ACG>ACT p.T804T ZFPM2_uc011lhs.1_Silent_p.T535T NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 804 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CTTCTCTGACGATCAACAAGT 0.443 33 22 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113563053 113563053 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr8:113563053C>A uc003ynu.2 - 27 4570 c.4411G>T c.(4411-4413)GTC>TTC p.V1471F CSMD3_uc003yns.2_Missense_Mutation_p.V743F|CSMD3_uc003ynt.2_Missense_Mutation_p.V1431F|CSMD3_uc011lhx.1_Missense_Mutation_p.V1367F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1471 Extracellular (Potential).|CUB 8. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CCGTCCCAGACTCGGAGTATA 0.378 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 34 114 --- --- --- --- PASS TG 7038 broad.mit.edu 37 8 134108523 134108523 + Missense_Mutation SNP C G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr8:134108523C>G uc003ytw.2 + 43 7519 c.7478C>G c.(7477-7479)GCC>GGC p.A2493G TG_uc010mdw.2_Missense_Mutation_p.A1252G|TG_uc011ljb.1_Missense_Mutation_p.A862G|TG_uc011ljc.1_Missense_Mutation_p.A626G|SLA_uc003ytz.2_Intron|SLA_uc011lje.1_Intron|SLA_uc011ljf.1_Intron|SLA_uc011ljg.1_Intron|SLA_uc010mea.2_Intron NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 2493 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GAGCCTCCAGCCAGAGCACTG 0.542 182 337 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139144962 139144962 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr8:139144962G>T uc003yuy.2 - 20 4266 c.4095C>A c.(4093-4095)AAC>AAA p.N1365K FAM135B_uc003yux.2_Missense_Mutation_p.N1266K|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1365 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CGTGGAACACGTTGTGTCGGA 0.532 HNSCC(54;0.14) 176 415 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139164371 139164371 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr8:139164371C>A uc003yuy.2 - 13 2518 c.2347G>T c.(2347-2349)GCT>TCT p.A783S FAM135B_uc003yux.2_Missense_Mutation_p.A684S|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.A345S|FAM135B_uc003yvb.2_Missense_Mutation_p.A345S NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 783 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GCATCTTCAGCAGCCTCCTCT 0.507 HNSCC(54;0.14) 81 56 --- --- --- --- PASS CYP11B1 1584 broad.mit.edu 37 8 143960491 143960491 + Missense_Mutation SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr8:143960491C>T uc003yxi.2 - 2 359 c.352G>A c.(352-354)GCC>ACC p.A118T CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.A118T|CYP11B1_uc010mey.2_Missense_Mutation_p.A163T NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 118 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) TGTCTGTAGGCCACCCAGGGC 0.627 Familial_Hyperaldosteronism_type_I 81 66 --- --- --- --- PASS RANBP6 26953 broad.mit.edu 37 9 6015055 6015055 + Silent SNP A G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr9:6015055A>G uc003zjr.2 - 1 564 c.553T>C c.(553-555)TTG>CTG p.L185L RANBP6_uc011lmf.1_Intron|RANBP6_uc003zjs.2_Intron NM_012416 NP_036548 O60518 RNBP6_HUMAN RAN binding protein 6 185 protein transport cytoplasm|nucleus binding ovary(3) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) CACTGGTCCAACAACCGTTTG 0.428 64 85 --- --- --- --- PASS FREM1 158326 broad.mit.edu 37 9 14857664 14857664 + Nonsense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr9:14857664C>A uc003zlm.2 - 5 1305 c.715G>T c.(715-717)GAG>TAG p.E239* FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 239 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) AGCAGGAACTCCTCACAGCTC 0.478 77 90 --- --- --- --- PASS CDKN2A 1029 broad.mit.edu 37 9 21971000 21971000 + Nonsense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr9:21971000C>A uc003zpk.2 - 2 570 c.358G>T c.(358-360)GAG>TAG p.E120* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 120 ANK 4. E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(13)|p.E120*(8)|p.E120K(4)|p.E120A(1)|p.A118fs*10(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGGCCCAGCTCCTCAGCCAGG 0.726 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 31 34 --- --- --- --- PASS TAF1L 138474 broad.mit.edu 37 9 32632793 32632793 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr9:32632793C>A uc003zrg.1 - 1 2875 c.2785G>T c.(2785-2787)GCC>TCC p.A929S uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 929 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCTTCTGGGGCAAAAAAGGAT 0.458 85 154 --- --- --- --- PASS FRMPD1 22844 broad.mit.edu 37 9 37740318 37740318 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr9:37740318G>A uc004aag.1 + 15 1837 c.1793G>A c.(1792-1794)CGC>CAC p.R598H FRMPD1_uc004aah.1_Missense_Mutation_p.R598H|FRMPD1_uc011lqm.1_Missense_Mutation_p.R420H|FRMPD1_uc011lqn.1_Missense_Mutation_p.R467H NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 598 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) ACTGAGAGCCGCGGCTACAGG 0.632 26 31 --- --- --- --- PASS GRIN3A 116443 broad.mit.edu 37 9 104385621 104385621 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr9:104385621C>A uc004bbp.1 - 5 3194 c.2593G>T c.(2593-2595)GGG>TGG p.G865W GRIN3A_uc004bbq.1_Missense_Mutation_p.G865W NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 865 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) AATGGCTTCCCCACAGTGAGA 0.418 34 63 --- --- --- --- PASS GRIN3A 116443 broad.mit.edu 37 9 104385622 104385622 + Silent SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr9:104385622C>A uc004bbp.1 - 5 3193 c.2592G>T c.(2590-2592)GTG>GTT p.V864V GRIN3A_uc004bbq.1_Silent_p.V864V NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 864 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) ATGGCTTCCCCACAGTGAGAA 0.413 32 62 --- --- --- --- PASS ASTN2 23245 broad.mit.edu 37 9 119738461 119738461 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr9:119738461C>A uc004bjs.1 - 9 1784 c.1683G>T c.(1681-1683)TGG>TGT p.W561C ASTN2_uc004bjr.1_Missense_Mutation_p.W561C|ASTN2_uc004bjt.1_Missense_Mutation_p.W510C NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 561 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 TCGTGTAGGGCCAAGGTCTAT 0.483 26 27 --- --- --- --- PASS SH2D3C 10044 broad.mit.edu 37 9 130536590 130536590 + Missense_Mutation SNP G C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr9:130536590G>C uc004bsc.2 - 2 336 c.194C>G c.(193-195)CCA>CGA p.P65R SH2D3C_uc004bsa.2_5'Flank|SH2D3C_uc004bsb.2_5'Flank|SH2D3C_uc004bsd.1_Missense_Mutation_p.P9R NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C isoform a 65 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity ovary(1) 1 GGCATAGGCTGGGGGACTCTT 0.597 20 45 --- --- --- --- PASS COQ4 51117 broad.mit.edu 37 9 131094462 131094462 + Missense_Mutation SNP C G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr9:131094462C>G uc004bur.3 + 5 780 c.433C>G c.(433-435)CGC>GGC p.R145G COQ4_uc004bus.2_Missense_Mutation_p.R121G|COQ4_uc010mxy.2_Missense_Mutation_p.R121G NM_016035 NP_057119 Q9Y3A0 COQ4_HUMAN coenzyme Q4 homolog precursor 145 ubiquinone biosynthetic process mitochondrial inner membrane 0 AGCACCCACCCGCTTCGTGGA 0.602 9 14 --- --- --- --- PASS LAMC3 10319 broad.mit.edu 37 9 133914549 133914549 + Silent SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr9:133914549C>A uc004caa.1 + 6 1295 c.1197C>A c.(1195-1197)GGC>GGA p.G399G NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 399 Laminin EGF-like 3. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) ATGACACAGGCACCTGCGCCT 0.657 22 44 --- --- --- --- PASS RALGDS 5900 broad.mit.edu 37 9 135983376 135983376 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr9:135983376G>A uc004cco.2 - 6 1216 c.1196C>T c.(1195-1197)GCG>GTG p.A399V RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.A387V|RALGDS_uc004ccr.2_Missense_Mutation_p.A398V|RALGDS_uc011mcv.1_Missense_Mutation_p.A370V|RALGDS_uc004ccs.2_Missense_Mutation_p.A344V|RALGDS_uc011mcw.1_Missense_Mutation_p.A470V|RALGDS_uc004ccv.1_Missense_Mutation_p.A168V|RALGDS_uc004ccu.1_Missense_Mutation_p.A168V NM_006266 NP_006257 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 399 Ras-GEF. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity large_intestine(1)|lung(1)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) GCTGCTCACCGCATCCATCAG 0.562 T CIITA PMBL|Hodgkin Lymphona| 4 102 --- --- --- --- PASS COL5A1 1289 broad.mit.edu 37 9 137721880 137721880 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr9:137721880G>A uc004cfe.2 + 64 5508 c.5126G>A c.(5125-5127)CGT>CAT p.R1709H uc004cff.2_Intron NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 1709 Fibrillar collagen NC1. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GAATTCAAGCGTGGGAAACTG 0.537 3 50 --- --- --- --- PASS PMPCA 23203 broad.mit.edu 37 9 139310803 139310803 + Missense_Mutation SNP G A A rs138828077 by1000genomes TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr9:139310803G>A uc004chl.2 + 6 598 c.593G>A c.(592-594)CGG>CAG p.R198Q PMPCA_uc011mdy.1_Missense_Mutation_p.R198Q|PMPCA_uc010nbk.2_RNA|PMPCA_uc010nbl.2_Missense_Mutation_p.R98Q|PMPCA_uc011mdz.1_Missense_Mutation_p.R67Q|PMPCA_uc004chm.1_5'UTR|PMPCA_uc004chn.1_5'Flank NM_015160 NP_055975 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 198 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding 0 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) CTGAACCTGCGGCCTGACCCA 0.562 60 89 --- --- --- --- PASS ABI1 10006 broad.mit.edu 37 10 27059274 27059274 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr10:27059274G>A uc001isx.2 - 5 645 c.478C>T c.(478-480)CAT>TAT p.H160Y ABI1_uc001ite.2_Missense_Mutation_p.H155Y|ABI1_uc010qdh.1_Missense_Mutation_p.H155Y|ABI1_uc010qdi.1_Missense_Mutation_p.H96Y|ABI1_uc001isy.2_Missense_Mutation_p.H160Y|ABI1_uc001ita.2_Missense_Mutation_p.H160Y|ABI1_uc001isz.2_Missense_Mutation_p.H155Y|ABI1_uc001itb.2_Missense_Mutation_p.H177Y|ABI1_uc001itc.2_Missense_Mutation_p.H160Y|ABI1_uc010qdj.1_Missense_Mutation_p.H160Y|ABI1_uc001itd.2_Missense_Mutation_p.H160Y|ABI1_uc010qdk.1_Missense_Mutation_p.H160Y|ABI1_uc010qdg.1_Missense_Mutation_p.H26Y NM_005470 NP_005461 Q8IZP0 ABI1_HUMAN abl-interactor 1 isoform a 160 actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome cytoskeletal protein binding central_nervous_system(1) 1 TTATTTCCATGCTAAAATGTA 0.383 50 13 --- --- --- --- PASS ABI1 10006 broad.mit.edu 37 10 27059275 27059275 + Splice_Site SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr10:27059275C>A uc001isx.2 - 5 645 c.478_splice c.e5-1 p.H160_splice ABI1_uc001ite.2_Splice_Site_p.H155_splice|ABI1_uc010qdh.1_Splice_Site_p.H155_splice|ABI1_uc010qdi.1_Splice_Site_p.H96_splice|ABI1_uc001isy.2_Splice_Site_p.H160_splice|ABI1_uc001ita.2_Splice_Site_p.H160_splice|ABI1_uc001isz.2_Splice_Site_p.H155_splice|ABI1_uc001itb.2_Splice_Site_p.H177_splice|ABI1_uc001itc.2_Splice_Site_p.H160_splice|ABI1_uc010qdj.1_Splice_Site_p.H160_splice|ABI1_uc001itd.2_Splice_Site_p.H160_splice|ABI1_uc010qdk.1_Splice_Site_p.H160_splice|ABI1_uc010qdg.1_Splice_Site_p.H26_splice NM_005470 NP_005461 Q8IZP0 ABI1_HUMAN abl-interactor 1 isoform a actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome cytoskeletal protein binding central_nervous_system(1) 1 TATTTCCATGCTAAAATGTAG 0.383 49 14 --- --- --- --- PASS MPP7 143098 broad.mit.edu 37 10 28348635 28348635 + Silent SNP A T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr10:28348635A>T uc001iua.1 - 16 1646 c.1242T>A c.(1240-1242)GGT>GGA p.G414G MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Silent_p.G414G|MPP7_uc009xla.2_Silent_p.G414G|MPP7_uc010qdv.1_RNA NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN palmitoylated membrane protein 7 414 Guanylate kinase-like. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity ovary(1) 1 TGTATTCAACACCATCACTCT 0.338 43 16 --- --- --- --- PASS LRRTM3 347731 broad.mit.edu 37 10 68686951 68686951 + Missense_Mutation SNP G C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr10:68686951G>C uc001jmz.1 + 2 827 c.277G>C c.(277-279)GAC>CAC p.D93H CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.D93H NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 93 Extracellular (Potential).|LRR 2. integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 GCTATACCTTGACCATAACCA 0.373 108 24 --- --- --- --- PASS SPOCK2 9806 broad.mit.edu 37 10 73848064 73848064 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr10:73848064C>A uc001jso.1 - 1 468 c.23G>T c.(22-24)CGG>CTG p.R8L SPOCK2_uc001jsp.2_Missense_Mutation_p.R8L|SPOCK2_uc010qjs.1_Missense_Mutation_p.R8L|SPOCK2_uc010qjt.1_Missense_Mutation_p.R8L NM_014767 NP_055582 Q92563 TICN2_HUMAN sparc/osteonectin, cwcv and kazal-like domains 8 extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly proteinaceous extracellular matrix calcium ion binding 0 CAGCACCAGCCGCCCGCAGCC 0.682 9 3 --- --- --- --- PASS ECD 11319 broad.mit.edu 37 10 74914078 74914078 + Missense_Mutation SNP G C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr10:74914078G>C uc001jtn.2 - 6 962 c.719C>G c.(718-720)CCT>CGT p.P240R ECD_uc009xqx.2_Missense_Mutation_p.P240R|ECD_uc009xqy.2_Missense_Mutation_p.P240R|ECD_uc001jto.2_Intron NM_007265 NP_009196 O95905 SGT1_HUMAN suppressor of S. cerevisiae gcr2 isoform 1 240 regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus transcription coactivator activity pancreas(1) 1 Prostate(51;0.0119) CAGGTCAATAGGGTCTCGTAG 0.483 21 14 --- --- --- --- PASS KIF20B 9585 broad.mit.edu 37 10 91533730 91533730 + Silent SNP T A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr10:91533730T>A uc001kgs.1 + 33 5460 c.5388T>A c.(5386-5388)ATT>ATA p.I1796I KIF20B_uc001kgr.1_Silent_p.I1756I|KIF20B_uc001kgt.1_Silent_p.I1007I|KIF20B_uc009xtw.1_RNA NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 1796 Interaction with PIN1. cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 AATTTCAGATTTTAATGGACC 0.284 42 15 --- --- --- --- PASS HTR7 3363 broad.mit.edu 37 10 92508865 92508865 + Silent SNP T G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr10:92508865T>G uc001kha.2 - 2 1269 c.1026A>C c.(1024-1026)CCA>CCC p.P342P HTR7_uc001kgz.2_Silent_p.P342P|HTR7_uc001khb.2_Silent_p.P342P NM_019859 NP_062873 P34969 5HT7R_HUMAN 5-hydroxytryptamine receptor 7 isoform d 342 Helical; Name=6; (By similarity). blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity ovary(1) 1 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) GGAGGAAAAATGGCAGCCAGC 0.532 8 53 --- --- --- --- PASS ENTPD7 57089 broad.mit.edu 37 10 101464369 101464369 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr10:101464369G>A uc001kqa.3 + 13 1922 c.1744G>A c.(1744-1746)GCC>ACC p.A582T ENTPD7_uc009xwl.2_Missense_Mutation_p.A584T NM_020354 NP_065087 Q9NQZ7 ENTP7_HUMAN ectonucleoside triphosphate diphosphohydrolase 582 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane hydrolase activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) ACAAACACGAGCCTCAGCTCC 0.547 27 4 --- --- --- --- PASS C10orf118 55088 broad.mit.edu 37 10 115905426 115905426 + Missense_Mutation SNP T C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr10:115905426T>C uc001lbb.1 - 5 1635 c.983A>G c.(982-984)GAA>GGA p.E328G C10orf118_uc009xyd.1_5'Flank|C10orf118_uc001lbc.1_Missense_Mutation_p.E328G|C10orf118_uc009xye.1_RNA NM_018017 NP_060487 Q7Z3E2 CJ118_HUMAN CTCL tumor antigen L14-2 328 Potential. ovary(2) 2 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0161)|all cancers(201;0.0397) TGTCTCTTTTTCCTTTCGAAG 0.373 4 93 --- --- --- --- PASS TRIM21 6737 broad.mit.edu 37 11 4411401 4411401 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr11:4411401C>A uc001lyy.1 - 2 352 c.239G>T c.(238-240)AGC>ATC p.S80I NM_003141 NP_003132 P19474 RO52_HUMAN tripartite motif protein 21 80 cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|lung(1) 4 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) GGCCTCCTGGCTGATTTCTTT 0.567 61 73 --- --- --- --- PASS OR51D1 390038 broad.mit.edu 37 11 4661500 4661500 + Silent SNP T A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr11:4661500T>A uc010qyk.1 + 1 480 c.480T>A c.(478-480)TCT>TCA p.S160S NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, 160 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) TTGGACTATCTGCCCTGACCA 0.532 113 127 --- --- --- --- PASS OR51T1 401665 broad.mit.edu 37 11 4903252 4903252 + Silent SNP C G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr11:4903252C>G uc010qyp.1 + 1 204 c.204C>G c.(202-204)CTC>CTG p.L68L NM_001004759 NP_001004759 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, 41 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CCATTGCCCTCTTGGGAAACA 0.473 92 142 --- --- --- --- PASS OR52E4 390081 broad.mit.edu 37 11 5905792 5905792 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr11:5905792C>A uc010qzs.1 + 1 270 c.270C>A c.(268-270)AAC>AAA p.N90K TRIM5_uc001mbq.1_Intron NM_001005165 NP_001005165 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, 90 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTGGTTCAACCTCCAAGAGA 0.463 112 114 --- --- --- --- PASS CNGA4 1262 broad.mit.edu 37 11 6265355 6265355 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr11:6265355G>T uc001mco.2 + 6 1551 c.1444G>T c.(1444-1446)GCT>TCT p.A482S CNGA4_uc010raa.1_3'UTR|CNGA4_uc001mcn.2_3'UTR NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 482 Cytoplasmic (Potential). response to stimulus|sensory perception of smell cAMP binding skin(1) 1 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGACGTGAATGCTGAGGCAGC 0.567 63 60 --- --- --- --- PASS APBB1 322 broad.mit.edu 37 11 6423356 6423356 + Silent SNP G C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr11:6423356G>C uc001mdb.1 - 8 1438 c.1338C>G c.(1336-1338)CCC>CCG p.P446P APBB1_uc001mcz.1_Silent_p.P67P|APBB1_uc001mdd.3_Silent_p.P226P|APBB1_uc001mda.2_5'UTR|APBB1_uc001mdc.1_Silent_p.P446P|APBB1_uc010rab.1_5'Flank|APBB1_uc010rac.1_5'Flank|APBB1_uc010rad.1_Silent_p.P67P|APBB1_uc010rae.1_Silent_p.P211P|APBB1_uc010raf.1_3'UTR|APBB1_uc009yfa.2_Silent_p.P187P|APBB1_uc009yey.2_Silent_p.P187P|APBB1_uc010rag.1_Silent_p.P187P|APBB1_uc009yfb.2_Silent_p.P187P|APBB1_uc001mde.2_Silent_p.P187P|APBB1_uc010rah.1_Silent_p.P187P NM_001164 NP_001155 O00213 APBB1_HUMAN amyloid beta A4 precursor protein-binding, 446 PID 1. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(2) 2 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) TGCTGATGATGGGTTGGGCGT 0.597 21 29 --- --- --- --- PASS SLC17A6 57084 broad.mit.edu 37 11 22398990 22398990 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr11:22398990C>A uc001mqk.2 + 12 1866 c.1453C>A c.(1453-1455)CTA>ATA p.L485I NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 485 Helical; (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 GATCGCTGCCCTAGTCCACTA 0.458 43 57 --- --- --- --- PASS LRRC4C 57689 broad.mit.edu 37 11 40136857 40136857 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr11:40136857C>A uc001mxa.1 - 2 2950 c.986G>T c.(985-987)CGG>CTG p.R329L LRRC4C_uc001mxc.1_Missense_Mutation_p.R325L|LRRC4C_uc001mxd.1_Missense_Mutation_p.R325L|LRRC4C_uc001mxb.1_Missense_Mutation_p.R325L NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 329 LRRCT. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) AGTGTTACACCGGGCACAACA 0.502 30 50 --- --- --- --- PASS OR5D14 219436 broad.mit.edu 37 11 55563899 55563899 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr11:55563899C>A uc010rim.1 + 1 868 c.868C>A c.(868-870)CTG>ATG p.L290M NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 290 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) GCTGAACCCTCTGATCTACAG 0.413 35 62 --- --- --- --- PASS OR5T2 219464 broad.mit.edu 37 11 55999874 55999874 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr11:55999874G>A uc010rjc.1 - 1 788 c.788C>T c.(787-789)GCC>GTC p.A263V NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 263 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) CTTCAGAATGGCCAACAGAAT 0.443 108 156 --- --- --- --- PASS MS4A8B 83661 broad.mit.edu 37 11 60482867 60482867 + Nonsense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr11:60482867G>T uc001npv.2 + 7 936 c.733G>T c.(733-735)GAG>TAG p.E245* NM_031457 NP_113645 Q9BY19 M4A8B_HUMAN membrane-spanning 4-domains, subfamily A, member 245 Cytoplasmic (Potential). integral to membrane receptor activity 0 TTATTCCAGTGAGATCCAAGC 0.483 14 39 --- --- --- --- PASS VWCE 220001 broad.mit.edu 37 11 61042035 61042035 + Missense_Mutation SNP C G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr11:61042035C>G uc001nra.2 - 12 1796 c.1517G>C c.(1516-1518)CGG>CCG p.R506P VWCE_uc001nrb.2_RNA NM_152718 NP_689931 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 506 VWFC 3. extracellular region calcium ion binding ovary(1) 1 TGCGTACCACCGGCCGTGGAA 0.562 35 79 --- --- --- --- PASS MAP4K2 5871 broad.mit.edu 37 11 64568595 64568595 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr11:64568595C>A uc001obh.2 - 8 610 c.518G>T c.(517-519)GGG>GTG p.G173V MAP4K2_uc001obi.2_Missense_Mutation_p.G173V NM_004579 NP_004570 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase 173 Protein kinase. activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting basolateral plasma membrane|Golgi membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(1)|pancreas(1) 2 GTAGGGAGTCCCAATGAAAGA 0.642 41 68 --- --- --- --- PASS MALAT1 378938 broad.mit.edu 37 11 65266582 65266582 + RNA SNP A G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr11:65266582A>G uc010roh.1 + 1 c.1350A>G MALAT1_uc001odz.2_5'Flank NR_002819 Homo sapiens clone alpha1 mRNA sequence. 0 GAAACCGCAGATAAGTTTTTT 0.438 69 53 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 11 67372426 67372426 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr11:67372426G>T uc001omi.1 - 2 271 c.115C>A c.(115-117)CTG>ATG p.L39M NDUFV1_uc001omj.2_5'Flank|NDUFV1_uc010rpv.1_5'Flank|NDUFV1_uc001oml.2_5'Flank|NDUFV1_uc001omk.3_5'Flank RecName: Full=Uncharacterized protein C11orf72; GATGACATCAGAGTGGATCTC 0.473 13 20 --- --- --- --- PASS PDE2A 5138 broad.mit.edu 37 11 72288475 72288475 + Missense_Mutation SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr11:72288475C>T uc010rrc.1 - 31 3022 c.2779G>A c.(2779-2781)GGC>AGC p.G927S PDE2A_uc001oso.2_Missense_Mutation_p.G906S|PDE2A_uc010rra.1_Missense_Mutation_p.G920S|PDE2A_uc001osn.2_Missense_Mutation_p.G671S|PDE2A_uc010rrb.1_Missense_Mutation_p.G918S|PDE2A_uc010rrd.1_Missense_Mutation_p.G812S NM_002599 NP_002590 O00408 PDE2A_HUMAN phosphodiesterase 2A isoform 1 927 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(2)|breast(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) GCCCTAGTGCCATCCAGATCA 0.612 50 56 --- --- --- --- PASS ARRB1 408 broad.mit.edu 37 11 74977313 74977313 + Missense_Mutation SNP T A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr11:74977313T>A uc001owe.1 - 16 1373 c.1151A>T c.(1150-1152)GAC>GTC p.D384V ARRB1_uc001owf.1_Missense_Mutation_p.D376V NM_004041 NP_004032 P49407 ARRB1_HUMAN arrestin beta 1 isoform A 384 Interaction with TRAF6. G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding breast(2) 2 TACAATGTCGTCATCACTGGT 0.527 45 44 --- --- --- --- PASS MYO7A 4647 broad.mit.edu 37 11 76924036 76924036 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr11:76924036G>A uc001oyb.2 + 47 6666 c.6394G>A c.(6394-6396)GCC>ACC p.A2132T MYO7A_uc001oyc.2_Missense_Mutation_p.A2092T|MYO7A_uc001oye.2_RNA NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 2132 FERM 2. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 CCTCCTAATTGCCATCAACAA 0.517 3 8 --- --- --- --- PASS FAM76B 143684 broad.mit.edu 37 11 95522558 95522558 + Missense_Mutation SNP T G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr11:95522558T>G uc001pfn.2 - 1 397 c.85A>C c.(85-87)AAG>CAG p.K29Q CEP57_uc001pfo.1_5'Flank|CEP57_uc010ruh.1_5'Flank|CEP57_uc010rui.1_5'Flank|CEP57_uc009ywn.1_5'Flank|CEP57_uc001pfp.1_5'Flank|CEP57_uc001pfq.1_5'Flank|CEP57_uc001pfr.1_5'Flank|FAM76B_uc001pfm.2_RNA NM_144664 NP_653265 Q5HYJ3 FA76B_HUMAN hypothetical protein LOC143684 29 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CCACGGACCTTGCAGAGCTGC 0.701 5 13 --- --- --- --- PASS CNTN5 53942 broad.mit.edu 37 11 99715950 99715950 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr11:99715950C>A uc001pga.2 + 6 872 c.533C>A c.(532-534)ACT>AAT p.T178N CNTN5_uc009ywv.1_Missense_Mutation_p.T178N|CNTN5_uc001pfz.2_Missense_Mutation_p.T178N|CNTN5_uc001pgb.2_Missense_Mutation_p.T104N NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 178 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GCAACCAACACTGTGGGGAGT 0.348 88 102 --- --- --- --- PASS CNTN5 53942 broad.mit.edu 37 11 100169925 100169925 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr11:100169925G>T uc001pga.2 + 20 2756 c.2417G>T c.(2416-2418)GGC>GTC p.G806V CNTN5_uc001pfz.2_Missense_Mutation_p.G806V|CNTN5_uc001pgb.2_Missense_Mutation_p.G732V|CNTN5_uc010ruk.1_Missense_Mutation_p.G77V NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 806 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AATGGGGAAGGCTTCGGCTAT 0.363 24 28 --- --- --- --- PASS KIAA1826 84437 broad.mit.edu 37 11 105880813 105880813 + Missense_Mutation SNP T C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr11:105880813T>C uc001piy.2 - 3 660 c.487A>G c.(487-489)ATG>GTG p.M163V KIAA1826_uc001piz.2_Missense_Mutation_p.M163V NM_032424 NP_115800 Q8NCY6 K1826_HUMAN hypothetical protein LOC84437 163 nucleus breast(1) 1 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309) GATGACAACATTTCTTCCTCC 0.368 68 81 --- --- --- --- PASS NPAT 4863 broad.mit.edu 37 11 108044245 108044245 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr11:108044245G>T uc001pjz.3 - 13 1568 c.1466C>A c.(1465-1467)TCT>TAT p.S489Y NPAT_uc001pka.2_Missense_Mutation_p.S284Y NM_002519 NP_002510 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 489 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity ovary(2) 2 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) TGAAGACAAAGAGTTCTTTTC 0.373 137 187 --- --- --- --- PASS ERC1 23085 broad.mit.edu 37 12 1137525 1137525 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr12:1137525G>T uc001qjb.2 + 2 697 c.456G>T c.(454-456)ATG>ATT p.M152I ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.M152I|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.M152I NM_178040 NP_829884 Q8IUD2 RB6I2_HUMAN RAB6-interacting protein 2 isoform epsilon 152 Potential. I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding ovary(2)|lung(2)|breast(1) 5 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) ACACAATCATGGATCTGCAGA 0.453 66 90 --- --- --- --- PASS ERC1 23085 broad.mit.edu 37 12 1137526 1137526 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr12:1137526G>T uc001qjb.2 + 2 698 c.457G>T c.(457-459)GAT>TAT p.D153Y ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.D153Y|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.D153Y NM_178040 NP_829884 Q8IUD2 RB6I2_HUMAN RAB6-interacting protein 2 isoform epsilon 153 Potential. I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding ovary(2)|lung(2)|breast(1) 5 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) CACAATCATGGATCTGCAGAC 0.448 66 89 --- --- --- --- PASS DPPA3 359787 broad.mit.edu 37 12 7868830 7868830 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr12:7868830G>T uc001qtf.2 + 3 442 c.364G>T c.(364-366)GTT>TTT p.V122F NM_199286 NP_954980 Q6W0C5 DPPA3_HUMAN stella 122 cytoplasm|nucleus 0 Kidney(36;0.0887) GCCTAAGGGAGTTAAGGTAAG 0.289 7 18 --- --- --- --- PASS KLRB1 3820 broad.mit.edu 37 12 9750731 9750731 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr12:9750731G>T uc010sgt.1 - 5 503 c.441C>A c.(439-441)GAC>GAA p.D147E NM_002258 NP_002249 Q12918 KLRB1_HUMAN killer cell lectin-like receptor subfamily B, 147 C-type lectin.|Extracellular (Potential). cell surface receptor linked signaling pathway integral to membrane|plasma membrane sugar binding|transmembrane receptor activity 0 GAATTGCTTTGTCACGTATCA 0.279 24 33 --- --- --- --- PASS MGST1 4257 broad.mit.edu 37 12 16507203 16507203 + Missense_Mutation SNP A T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr12:16507203A>T uc001rdf.2 + 2 82 c.17A>T c.(16-18)CAG>CTG p.Q6L MGST1_uc001rdg.2_Missense_Mutation_p.Q6L|MGST1_uc009zih.1_Intron|MGST1_uc001rdh.2_Missense_Mutation_p.Q6L|MGST1_uc001rdi.2_Missense_Mutation_p.Q6L NM_145792 NP_665735 P10620 MGST1_HUMAN microsomal glutathione S-transferase 1 6 Lumenal (By similarity). protein homotrimerization|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane glutathione transferase activity 0 Hepatocellular(102;0.121) Glutathione(DB00143) GACCTCACCCAGGTAATGGAT 0.323 35 54 --- --- --- --- PASS CNTN1 1272 broad.mit.edu 37 12 41316152 41316152 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr12:41316152G>A uc001rmm.1 + 5 435 c.322G>A c.(322-324)GAT>AAT p.D108N CNTN1_uc009zjy.1_Missense_Mutation_p.D108N|CNTN1_uc001rmn.1_Missense_Mutation_p.D97N|CNTN1_uc001rmo.2_Missense_Mutation_p.D108N NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 108 Ig-like C2-type 1. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) CAAACAGAAAGATGCTGGAAT 0.393 66 87 --- --- --- --- PASS COL2A1 1280 broad.mit.edu 37 12 48368603 48368603 + Missense_Mutation SNP G C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr12:48368603G>C uc001rqu.2 - 52 4110 c.3929C>G c.(3928-3930)GCC>GGC p.A1310G COL2A1_uc001rqt.2_Missense_Mutation_p.A91G|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.A1241G NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 1310 Fibrillar collagen NC1. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) AACCTTCATGGCGTCCAAGGT 0.557 86 99 --- --- --- --- PASS TENC1 23371 broad.mit.edu 37 12 53454219 53454219 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr12:53454219G>A uc001sbp.2 + 19 2783 c.2648G>A c.(2647-2649)GGC>GAC p.G883D TENC1_uc001sbl.2_Missense_Mutation_p.G759D|TENC1_uc001sbn.2_Missense_Mutation_p.G893D|TENC1_uc001sbq.2_Missense_Mutation_p.G281D|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Missense_Mutation_p.G378D|TENC1_uc001sbs.2_5'Flank NM_170754 NP_736610 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase 883 Pro-rich. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding ovary(1)|pancreas(1) 2 TGGAGGGAGGGCCCCAGTGGG 0.637 42 44 --- --- --- --- PASS PDE1B 5153 broad.mit.edu 37 12 54964082 54964082 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr12:54964082G>A uc001sgd.1 + 6 701 c.535G>A c.(535-537)GCC>ACC p.A179T PDE1B_uc010soz.1_Missense_Mutation_p.A42T|PDE1B_uc010spa.1_Missense_Mutation_p.A138T|PDE1B_uc001sgf.2_Missense_Mutation_p.A42T|PDE1B_uc001sge.2_Missense_Mutation_p.A159T|PDE1B_uc009znq.2_5'UTR NM_000924 NP_000915 Q01064 PDE1B_HUMAN phosphodiesterase 1B isoform 1 179 activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding upper_aerodigestive_tract(1)|ovary(1) 2 AGATGACCATGCCCTGAGGAC 0.498 90 102 --- --- --- --- PASS PPFIA2 8499 broad.mit.edu 37 12 82147808 82147808 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr12:82147808C>A uc001szo.1 - 3 354 c.193G>T c.(193-195)GAT>TAT p.D65Y PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ovary(3)|lung(2)|pancreas(1) 6 TAGATGACATCCTGAAGTCTT 0.488 26 21 --- --- --- --- PASS UBE3B 89910 broad.mit.edu 37 12 109971309 109971309 + Silent SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr12:109971309C>T uc001top.2 + 27 3564 c.2961C>T c.(2959-2961)TTC>TTT p.F987F UBE3B_uc001toq.2_Silent_p.F987F|UBE3B_uc001tos.2_Silent_p.F414F|UBE3B_uc001tot.2_Silent_p.F105F|UBE3B_uc010sxp.1_Silent_p.F105F NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 987 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 TCCTGGGATTCGCCTACCTCA 0.642 16 140 --- --- --- --- PASS TCTN1 79600 broad.mit.edu 37 12 111052162 111052162 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr12:111052162G>A uc009zvs.2 + 1 283 c.175G>A c.(175-177)GCT>ACT p.A59T TCTN1_uc010syb.1_Missense_Mutation_p.A59T|TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_5'UTR|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Missense_Mutation_p.A59T|TCTN1_uc001trn.3_Missense_Mutation_p.A59T|TCTN1_uc001tri.2_5'UTR|TCTN1_uc001trj.1_5'UTR|TCTN1_uc001trk.3_RNA NM_001082537 NP_001076006 Q2MV58 TECT1_HUMAN tectonic family member 1 isoform 2 59 multicellular organismal development extracellular region 0 GACTCCCAGGGCTCCAGGGCC 0.687 12 13 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124330637 124330637 + Missense_Mutation SNP T C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr12:124330637T>C uc001uft.3 + 31 5421 c.5396T>C c.(5395-5397)ATG>ACG p.M1799T NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1799 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TACGAGTACATGGGCCTGAAC 0.577 32 51 --- --- --- --- PASS TMEM132D 121256 broad.mit.edu 37 12 129566527 129566527 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr12:129566527C>A uc009zyl.1 - 7 2028 c.1700G>T c.(1699-1701)GGC>GTC p.G567V TMEM132D_uc001uia.2_Missense_Mutation_p.G105V NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 567 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CAGGGTGCAGCCGCGGCCCCT 0.642 42 65 --- --- --- --- PASS ATP8A2 51761 broad.mit.edu 37 13 26411317 26411317 + Missense_Mutation SNP C G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr13:26411317C>G uc001uqk.2 + 29 2913 c.2771C>G c.(2770-2772)CCG>CGG p.P924R ATP8A2_uc010tdi.1_Missense_Mutation_p.P859R|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.P474R NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 884 Helical; (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) ACCGCTTTGCCGCCCTTCACT 0.498 61 96 --- --- --- --- PASS BRCA2 675 broad.mit.edu 37 13 32914165 32914165 + Silent SNP A T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr13:32914165A>T uc001uub.1 + 11 5900 c.5673A>T c.(5671-5673)GCA>GCT p.A1891A NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 1891 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AAATTATGGCAGGTTGTTACG 0.323 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 14 48 --- --- --- --- PASS LCP1 3936 broad.mit.edu 37 13 46725120 46725120 + Missense_Mutation SNP A T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr13:46725120A>T uc001vaz.3 - 8 959 c.833T>A c.(832-834)CTG>CAG p.L278Q LCP1_uc001vba.3_Missense_Mutation_p.L278Q NM_002298 NP_002289 P13796 PLSL_HUMAN L-plastin 278 CH 2.|Actin-binding 1. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding lung(4)|ovary(3) 7 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) TGCATTTTCCAGGTGGTAATT 0.473 T BCL6 NHL 79 111 --- --- --- --- PASS INTS6 26512 broad.mit.edu 37 13 51948489 51948489 + Missense_Mutation SNP G C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr13:51948489G>C uc001vfk.2 - 15 2573 c.1959C>G c.(1957-1959)ATC>ATG p.I653M INTS6_uc001vfi.2_Missense_Mutation_p.I337M|INTS6_uc001vfj.2_Missense_Mutation_p.I640M|INTS6_uc001vfl.2_Missense_Mutation_p.I475M NM_012141 NP_036273 Q9UL03 INT6_HUMAN integrator complex subunit 6 isoform a 653 snRNA processing actin cytoskeleton|integrator complex protein binding|transmembrane receptor activity ovary(1)|lung(1) 2 Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;7.7e-08) GTCTTTTAGGGATCCCTTGCA 0.428 164 190 --- --- --- --- PASS HNRNPA1L2 144983 broad.mit.edu 37 13 53217355 53217355 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr13:53217355G>T uc001vgx.1 + 7 1801 c.728G>T c.(727-729)GGC>GTC p.G243V HNRNPA1L2_uc001vgy.1_Missense_Mutation_p.G243V|HNRNPA1L2_uc001vgz.1_Missense_Mutation_p.G243V NM_001011724 NP_001011724 Q32P51 RA1L2_HUMAN heterogeneous nuclear ribonucleoprotein A1-like 243 Gly-rich. mRNA processing|mRNA transport|RNA splicing cytoplasm|spliceosomal complex nucleotide binding|RNA binding 0 agtggggatggctataatgga 0.095 14 15 --- --- --- --- PASS KLHL1 57626 broad.mit.edu 37 13 70514254 70514254 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr13:70514254G>T uc001vip.2 - 4 1726 c.932C>A c.(931-933)CCA>CAA p.P311Q KLHL1_uc010thm.1_Missense_Mutation_p.P250Q NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 311 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) ACAGTTAGATGGATGCAAAAG 0.468 35 28 --- --- --- --- PASS MYCBP2 23077 broad.mit.edu 37 13 77760039 77760039 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr13:77760039G>A uc001vkf.2 - 32 4388 c.4297C>T c.(4297-4299)CGT>TGT p.R1433C MYCBP2_uc010aev.2_Missense_Mutation_p.R837C NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1433 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GTATAGACACGCAATAACCTC 0.373 49 59 --- --- --- --- PASS SLITRK6 84189 broad.mit.edu 37 13 86368471 86368471 + Nonsense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr13:86368471C>A uc001vll.1 - 2 2632 c.2173G>T c.(2173-2175)GAA>TAA p.E725* SLITRK6_uc010afe.1_Nonsense_Mutation_p.E178* NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 725 Cytoplasmic (Potential). integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) GAATGATTTTCCTGTTCCAAA 0.393 232 353 --- --- --- --- PASS TMTC4 84899 broad.mit.edu 37 13 101287430 101287430 + Nonsense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr13:101287430C>A uc001vou.2 - 10 1325 c.1165G>T c.(1165-1167)GGA>TGA p.G389* TMTC4_uc001vot.2_Nonsense_Mutation_p.G408*|TMTC4_uc010tja.1_Nonsense_Mutation_p.G278*|TMTC4_uc001vov.1_Nonsense_Mutation_p.G134*|TMTC4_uc001vow.1_Nonsense_Mutation_p.G172* NM_001079669 NP_001073137 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat 389 Helical; (Potential). integral to membrane binding ovary(2)|breast(1) 3 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ACGAGAAATCCCAGGCCCAGA 0.468 12 19 --- --- --- --- PASS NALCN 259232 broad.mit.edu 37 13 101759882 101759882 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr13:101759882C>A uc001vox.1 - 22 2724 c.2535G>T c.(2533-2535)AGG>AGT p.R845S NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 845 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGTTTCTGAACCTGTGTTCTC 0.507 55 100 --- --- --- --- PASS NALCN 259232 broad.mit.edu 37 13 101759883 101759883 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr13:101759883C>A uc001vox.1 - 22 2723 c.2534G>T c.(2533-2535)AGG>ATG p.R845M NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 845 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GTTTCTGAACCTGTGTTCTCG 0.507 54 101 --- --- --- --- PASS COL4A2 1284 broad.mit.edu 37 13 111117753 111117753 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr13:111117753G>A uc001vqx.2 + 25 2067 c.1778G>A c.(1777-1779)GGT>GAT p.G593D NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 593 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) TTCACACAGGGTGATGGCATC 0.493 60 99 --- --- --- --- PASS OR4M1 441670 broad.mit.edu 37 14 20249064 20249064 + Nonsense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr14:20249064G>T uc010tku.1 + 1 583 c.583G>T c.(583-585)GAG>TAG p.E195* NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 195 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CACCTTCCCAGAGGAGTTAGT 0.468 167 213 --- --- --- --- PASS NYNRIN 57523 broad.mit.edu 37 14 24877620 24877620 + Silent SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr14:24877620G>T uc001wpf.3 + 3 1062 c.744G>T c.(742-744)GGG>GGT p.G248G NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 248 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 TGGACATGGGGACCCTCCAGA 0.592 53 74 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42356843 42356843 + Missense_Mutation SNP A T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr14:42356843A>T uc001wvm.2 + 3 2213 c.1015A>T c.(1015-1017)AAC>TAC p.N339Y LRFN5_uc010ana.2_Missense_Mutation_p.N339Y NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 339 Extracellular (Potential).|Ig-like. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GGTGTATGATAACGGAACACT 0.448 HNSCC(30;0.082) 86 128 --- --- --- --- PASS FSCB 84075 broad.mit.edu 37 14 44974473 44974473 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr14:44974473G>T uc001wvn.2 - 1 2027 c.1718C>A c.(1717-1719)CCT>CAT p.P573H NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 573 Ala-rich. cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) AAGCTCAAGAGGGGCCTCTTC 0.522 24 47 --- --- --- --- PASS PAPLN 89932 broad.mit.edu 37 14 73719481 73719481 + Silent SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr14:73719481G>A uc010ttx.1 + 10 1255 c.1092G>A c.(1090-1092)AAG>AAA p.K364K PAPLN_uc001xnw.3_Silent_p.K337K|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Silent_p.K364K NM_173462 NP_775733 O95428 PPN_HUMAN papilin 364 TSP type-1 3. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) CGGAGACCAAGCGGTGAGACC 0.607 19 167 --- --- --- --- PASS TECPR2 9895 broad.mit.edu 37 14 102916037 102916037 + Silent SNP G C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr14:102916037G>C uc001ylw.1 + 14 3295 c.3147G>C c.(3145-3147)TCG>TCC p.S1049S TECPR2_uc010awl.2_Silent_p.S1049S|TECPR2_uc010txx.1_Silent_p.S212S NM_014844 NP_055659 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 1049 protein binding lung(1)|central_nervous_system(1)|skin(1) 3 CCACTCACTCGGTGGCCACAG 0.562 61 71 --- --- --- --- PASS ATP10A 57194 broad.mit.edu 37 15 25924794 25924794 + Silent SNP T A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr15:25924794T>A uc010ayu.2 - 21 4300 c.4194A>T c.(4192-4194)CCA>CCT p.P1398P NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 1398 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) CAGCCTCCCCTGGCGCAGAGG 0.677 36 58 --- --- --- --- PASS CAPN3 825 broad.mit.edu 37 15 42693953 42693953 + Missense_Mutation SNP G T T rs121434548 TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr15:42693953G>T uc001zpn.1 + 11 1775 c.1469G>T c.(1468-1470)CGG>CTG p.R490L CAPN3_uc001zpk.1_Missense_Mutation_p.R263L|CAPN3_uc001zpl.1_Missense_Mutation_p.R403L|CAPN3_uc010udf.1_Missense_Mutation_p.R403L|CAPN3_uc010udg.1_Missense_Mutation_p.R355L|CAPN3_uc001zpo.1_Missense_Mutation_p.R490L|CAPN3_uc001zpp.1_Missense_Mutation_p.R442L|CAPN3_uc001zpq.1_5'Flank NM_000070 NP_000061 P20807 CAN3_HUMAN calpain 3 isoform a 490 Domain III. R -> W (in LGMD2A).|R -> Q (in LGMD2A). muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity central_nervous_system(1) 1 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) AAGAACCGGCGGAAGGACCGG 0.572 20 23 --- --- --- --- PASS SLC12A1 6557 broad.mit.edu 37 15 48539555 48539555 + Missense_Mutation SNP T A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr15:48539555T>A uc001zwn.3 + 13 1798 c.1582T>A c.(1582-1584)TAC>AAC p.Y528N SLC12A1_uc010uew.1_Missense_Mutation_p.Y334N|SLC12A1_uc010bem.2_Missense_Mutation_p.Y528N|SLC12A1_uc001zwq.3_Missense_Mutation_p.Y299N|SLC12A1_uc001zwr.3_Missense_Mutation_p.Y255N NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 528 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) GGACAACATCTACAAAGCCCT 0.363 61 56 --- --- --- --- PASS FBN1 2200 broad.mit.edu 37 15 48713001 48713001 + Missense_Mutation SNP C A A rs138558987 TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr15:48713001C>A uc001zwx.1 - 63 8030 c.7702G>T c.(7702-7704)GTG>TTG p.V2568L FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 2568 EGF-like 45; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CACTCGTCCACGTCTGAAAAA 0.537 30 36 --- --- --- --- PASS SECISBP2L 9728 broad.mit.edu 37 15 49329817 49329817 + Silent SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr15:49329817G>A uc001zxe.1 - 2 308 c.174C>T c.(172-174)TAC>TAT p.Y58Y SECISBP2L_uc001zxd.1_Silent_p.Y58Y|SECISBP2L_uc010bep.1_5'UTR|SECISBP2L_uc010beq.1_Silent_p.Y58Y NM_014701 NP_055516 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 58 breast(1)|skin(1) 2 GCACAAATGGGTAACAAGTAA 0.383 42 49 --- --- --- --- PASS SGK269 79834 broad.mit.edu 37 15 77407452 77407452 + Silent SNP C T T rs55736391 TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr15:77407452C>T uc002bcm.2 - 6 4595 c.4287G>A c.(4285-4287)ACG>ACA p.T1429T NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 1429 Protein kinase. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding 0 STAD - Stomach adenocarcinoma(199;0.124) TTTTCCCATCCGTTTCTCCTT 0.507 8 247 --- --- --- --- PASS ADAMTS7 11173 broad.mit.edu 37 15 79058441 79058441 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr15:79058441G>A uc002bej.3 - 19 4023 c.3812C>T c.(3811-3813)GCT>GTT p.A1271V ADAMTS7_uc010und.1_3'UTR NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 1271 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 ACCCTCCAGAGCTGGCTCCCA 0.642 28 41 --- --- --- --- PASS CHTF18 63922 broad.mit.edu 37 16 846977 846977 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr16:846977C>A uc002cke.3 + 20 2681 c.2618C>A c.(2617-2619)CCA>CAA p.P873Q CHTF18_uc002ckf.3_Missense_Mutation_p.P901Q|CHTF18_uc010brf.2_Missense_Mutation_p.P455Q|CHTF18_uc002ckg.3_Missense_Mutation_p.P391Q NM_022092 NP_071375 Q8WVB6 CTF18_HUMAN CTF18, chromosome transmission fidelity factor 873 cell cycle|DNA replication nucleus ATP binding|DNA binding|nucleoside-triphosphatase activity kidney(1) 1 Hepatocellular(780;0.00335) GGGAGCCCCCCAGGGCTCGAG 0.647 87 16 --- --- --- --- PASS NTHL1 4913 broad.mit.edu 37 16 2094632 2094632 + Missense_Mutation SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr16:2094632C>T uc002col.1 - 3 567 c.548G>A c.(547-549)AGG>AAG p.R183K NTHL1_uc002com.1_Missense_Mutation_p.R184K NM_002528 NP_002519 P78549 NTHL1_HUMAN nth endonuclease III-like 1 183 depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion nucleoplasm 4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding lung(1) 1 AGGGCTCACCCTCCAGAAACC 0.667 BER_DNA_glycosylases 46 8 --- --- --- --- PASS E4F1 1877 broad.mit.edu 37 16 2279622 2279622 + Missense_Mutation SNP G C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr16:2279622G>C uc002cpm.2 + 3 409 c.361G>C c.(361-363)GTG>CTG p.V121L E4F1_uc010bsi.2_Missense_Mutation_p.V121L|E4F1_uc010bsj.2_Missense_Mutation_p.V121L NM_004424 NP_004415 Q66K89 E4F1_HUMAN p120E4F 121 cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 GGCCCACATCGTGGTGGAGGC 0.592 152 21 --- --- --- --- PASS GLYR1 84656 broad.mit.edu 37 16 4895079 4895079 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr16:4895079C>A uc002cxx.3 - 3 188 c.151G>T c.(151-153)GAT>TAT p.D51Y GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_5'UTR|GLYR1_uc002cya.2_Missense_Mutation_p.D51Y|GLYR1_uc010uxv.1_Missense_Mutation_p.D51Y|UBN1_uc010uxw.1_5'Flank|UBN1_uc002cyb.2_5'Flank NM_032569 NP_115958 Q49A26 GLYR1_HUMAN cytokine-like nuclear factor n-pac 51 PWWP. pentose-phosphate shunt nucleus coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity 0 ACTCACTGATCTTCTGTTCCA 0.418 115 22 --- --- --- --- PASS COG7 91949 broad.mit.edu 37 16 23464258 23464258 + Missense_Mutation SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr16:23464258C>T uc002dlo.2 - 1 246 c.58G>A c.(58-60)GCC>ACC p.A20T NM_153603 NP_705831 P83436 COG7_HUMAN component of oligomeric golgi complex 7 20 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 GBM - Glioblastoma multiforme(48;0.0401) GCCCTGAAGGCCGCATTGATC 0.607 49 54 --- --- --- --- PASS FUS 2521 broad.mit.edu 37 16 31196347 31196347 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr16:31196347G>T uc002ebf.2 + 6 694 c.611G>T c.(610-612)GGC>GTC p.G204V FUS_uc002ebe.1_Missense_Mutation_p.G200V|FUS_uc002ebh.2_Missense_Mutation_p.G203V|FUS_uc002ebg.2_Missense_Mutation_p.A11S|FUS_uc002ebi.2_Missense_Mutation_p.G204V|FUS_uc002ebj.2_Missense_Mutation_p.A11S|FUS_uc002ebk.1_5'Flank NM_004960 NP_004951 P35637 FUS_HUMAN fusion (involved in t(12;16) in malignant 204 Gly-rich. cell death|nuclear mRNA splicing, via spliceosome nucleoplasm DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding FUS/DDIT3(623)|FUS/ERG(163)|FUS/CREB3L2(158)|FUS/CREB3L1(6)|FUS/ATF1(4)|FUS/FEV(2) soft_tissue(791)|haematopoietic_and_lymphoid_tissue(153)|bone(12)|breast(2) 958 Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121) GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209) ggtggaggtggcagcggtggC 0.204 T DDIT3|ERG|FEV|ATF1|CREB3L2|CREB3L1 liposarcoma|AML|Ewing sarcoma|angiomatoid fibrous histiocytoma|fibromyxoid sarcoma 23 23 --- --- --- --- PASS NUDT21 11051 broad.mit.edu 37 16 56481718 56481718 + Silent SNP T A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr16:56481718T>A uc002eja.2 - 2 447 c.300A>T c.(298-300)GGA>GGT p.G100G NUDT21_uc002eiz.2_Silent_p.G25G NM_007006 NP_008937 O43809 CPSF5_HUMAN cleavage and polyadenylation specific factor 5 100 Nudix hydrolase.|Necessary for interactions with PAPOLA and PABPN1.|Necessary for RNA-binding. mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription centrosome|mRNA cleavage factor complex|paraspeckles AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity 0 AGAAAGTTGTTCCCAGCTGCA 0.418 60 70 --- --- --- --- PASS CDH5 1003 broad.mit.edu 37 16 66432377 66432377 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr16:66432377G>A uc002eom.3 + 10 1660 c.1504G>A c.(1504-1506)GCA>ACA p.A502T NM_001795 NP_001786 P33151 CADH5_HUMAN cadherin 5, type 2 preproprotein 502 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) GCAGATCTCCGCAATAGACAA 0.498 52 69 --- --- --- --- PASS RLTPR 146206 broad.mit.edu 37 16 67691204 67691204 + Missense_Mutation SNP C G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr16:67691204C>G uc002etn.2 + 37 4300 c.4180C>G c.(4180-4182)CCA>GCA p.P1394A RLTPR_uc010vjr.1_Missense_Mutation_p.P1331A NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin 1394 Pro-rich. breast(1) 1 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CGAGGCACCTCCATCCCCAAG 0.642 21 26 --- --- --- --- PASS CDH3 1001 broad.mit.edu 37 16 68732173 68732173 + Missense_Mutation SNP C G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr16:68732173C>G uc002ewf.2 + 16 3492 c.2360C>G c.(2359-2361)TCC>TGC p.S787C CDH3_uc010vli.1_Missense_Mutation_p.S732C NM_001793 NP_001784 P22223 CADH3_HUMAN cadherin 3, type 1 preproprotein 787 Cytoplasmic (Potential).|Ser-rich. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(1) ovary(3)|breast(1)|skin(1) 5 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) GGCAGCGGCTCCGACGCCGCG 0.612 83 105 --- --- --- --- PASS ADAMTS18 170692 broad.mit.edu 37 16 77353866 77353866 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr16:77353866C>A uc002ffc.3 - 16 2831 c.2412G>T c.(2410-2412)TGG>TGT p.W804C ADAMTS18_uc010chc.1_Missense_Mutation_p.W392C|ADAMTS18_uc002ffe.1_Missense_Mutation_p.W500C NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 804 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 AGTCGATGCTCCAGCCCCCGG 0.597 39 53 --- --- --- --- PASS OR3A1 4994 broad.mit.edu 37 17 3195189 3195189 + Silent SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr17:3195189G>T uc002fvh.1 - 1 688 c.688C>A c.(688-690)CGA>AGA p.R230R NM_002550 NP_002541 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, 230 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R230*(1) kidney(2)|central_nervous_system(1) 3 GAGCGAATTCGCAGGACTGCA 0.483 11 41 --- --- --- --- PASS SPATA22 84690 broad.mit.edu 37 17 3346530 3346530 + Missense_Mutation SNP A C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr17:3346530A>C uc002fvm.2 - 8 1075 c.838T>G c.(838-840)TAT>GAT p.Y280D SPATA22_uc010vrg.1_Missense_Mutation_p.Y264D|SPATA22_uc010vrf.1_Intron|SPATA22_uc002fvn.2_Missense_Mutation_p.Y280D|SPATA22_uc002fvo.2_Missense_Mutation_p.Y280D|SPATA22_uc002fvp.2_Missense_Mutation_p.Y280D|SPATA22_uc010ckf.2_Missense_Mutation_p.Y237D NM_032598 NP_115987 Q8NHS9 SPT22_HUMAN spermatogenesis associated 22 280 0 GTCTTCGAATAATATGGGCCA 0.348 32 6 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7574017 7574017 + Missense_Mutation SNP C A A rs121912664 TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr17:7574017C>A uc002gim.2 - 10 1204 c.1010G>T c.(1009-1011)CGC>CTC p.R337L TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.R205L|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.R337L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 337 Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2. R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R337C(12)|p.0?(7)|p.R337L(5)|p.R337H(2)|p.?(1)|p.I332fs*5(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) CATCTCGAAGCGCTCACGCCC 0.453 111 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) 21 3 --- --- --- --- PASS TMEM107 84314 broad.mit.edu 37 17 8079165 8079165 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr17:8079165C>A uc002gkg.3 - 3 276 c.166G>T c.(166-168)GCG>TCG p.A56S TMEM107_uc002gkh.3_Missense_Mutation_p.A62S|TMEM107_uc002gki.3_Missense_Mutation_p.A62S|TMEM107_uc002gkj.3_Intron|TMEM107_uc002gkk.2_Missense_Mutation_p.A56S NM_183065 NP_898888 Q6UX40 TM107_HUMAN transmembrane protein 107 isoform 2 56 Helical; (Potential). integral to membrane 0 ACAGAGAGCGCGGCCACCAGC 0.597 60 9 --- --- --- --- PASS MYO15A 51168 broad.mit.edu 37 17 18054736 18054736 + Missense_Mutation SNP A G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr17:18054736A>G uc010vxh.1 + 39 8020 c.7682A>G c.(7681-7683)TAC>TGC p.Y2561C MYO15A_uc010vxi.1_5'Flank|MYO15A_uc010vxj.1_5'Flank|MYO15A_uc010vxk.1_5'Flank NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 2561 Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) CTGGTCCGGTACTCTACGCTC 0.637 61 11 --- --- --- --- PASS SRCIN1 80725 broad.mit.edu 37 17 36714598 36714598 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr17:36714598G>T uc002hqd.2 - 11 2291 c.2066C>A c.(2065-2067)ACG>AAG p.T689K SRCIN1_uc002hqf.1_Missense_Mutation_p.T561K|SRCIN1_uc002hqe.2_Missense_Mutation_p.T543K|SRCIN1_uc002hqg.2_5'UTR NM_025248 NP_079524 Q9C0H9 SRCN1_HUMAN SNAP25-interacting protein 561 Interaction with SNAP25 (By similarity). exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding 0 CTCTGCCTCCGTGCGCTTCAG 0.721 OREG0024362 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 42 --- --- --- --- PASS NPEPPS 9520 broad.mit.edu 37 17 45668111 45668111 + Missense_Mutation SNP A T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr17:45668111A>T uc002ilr.3 + 10 1347 c.1124A>T c.(1123-1125)GAA>GTA p.E375V NPEPPS_uc010wkt.1_Missense_Mutation_p.E371V|NPEPPS_uc010wku.1_Missense_Mutation_p.E339V|NPEPPS_uc010wkv.1_5'UTR NM_006310 NP_006301 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 375 Zinc; catalytic (By similarity). proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding 0 TGGTTAAATGAAGGTTTTGCA 0.363 9 189 --- --- --- --- PASS MIR10A 406902 broad.mit.edu 37 17 46657302 46657302 + RNA SNP G C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr17:46657302G>C hsa-mir-10a|MI0000266 - c.8G>C HOXB3_uc010wlm.1_Intron|HOXB3_uc010dbf.2_Intron|HOXB3_uc010dbg.2_Intron|HOXB3_uc010wll.1_Intron|HOXB4_uc002inp.2_5'Flank|uc002inq.3_RNA 0 ACAGAAGACAGACAGATCTTC 0.413 26 63 --- --- --- --- PASS LUC7L3 51747 broad.mit.edu 37 17 48818594 48818594 + Missense_Mutation SNP A C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr17:48818594A>C uc002isr.2 + 4 455 c.338A>C c.(337-339)CAG>CCG p.Q113P LUC7L3_uc002isp.1_Missense_Mutation_p.Q37P|LUC7L3_uc010wmw.1_Missense_Mutation_p.Q37P|LUC7L3_uc002isq.2_Missense_Mutation_p.Q113P|LUC7L3_uc002iss.2_Missense_Mutation_p.Q113P NM_006107 NP_006098 O95232 LC7L3_HUMAN LUC7-like 3 113 apoptosis|mRNA processing|response to stress|RNA splicing focal adhesion|nuclear speck DNA binding|mRNA binding|protein binding 0 TCTCAAAACCAGCAGTCTTCT 0.418 45 112 --- --- --- --- PASS WFIKKN2 124857 broad.mit.edu 37 17 48916920 48916920 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr17:48916920G>T uc002isv.3 + 2 965 c.271G>T c.(271-273)GCC>TCC p.A91S WFIKKN2_uc010dbu.2_5'UTR NM_175575 NP_783165 Q8TEU8 WFKN2_HUMAN WFIKKN2 protein 91 WAP. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) CTGCGTGGCGGCCCGCTACAT 0.582 55 31 --- --- --- --- PASS ANKFN1 162282 broad.mit.edu 37 17 54558135 54558135 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr17:54558135G>T uc002iun.1 + 16 2091 c.2056G>T c.(2056-2058)GCA>TCA p.A686S NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 686 large_intestine(1)|ovary(1) 2 GCTCCAGATGGCAGTGAAAGC 0.418 321 232 --- --- --- --- PASS OR4D2 124538 broad.mit.edu 37 17 56247272 56247272 + Missense_Mutation SNP C G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr17:56247272C>G uc010wnp.1 + 1 256 c.256C>G c.(256-258)CTC>GTC p.L86V NM_001004707 NP_001004707 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, 86 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 AGTGGACCTCCTCTCTGAGAA 0.507 221 122 --- --- --- --- PASS AXIN2 8313 broad.mit.edu 37 17 63554499 63554499 + Silent SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr17:63554499C>T uc002jfi.2 - 2 529 c.240G>A c.(238-240)AAG>AAA p.K80K AXIN2_uc010den.1_Silent_p.K80K|AXIN2_uc002jfh.2_Silent_p.K80K|AXIN2_uc002jfj.1_Silent_p.K80K NM_004655 NP_004646 Q9Y2T1 AXIN2_HUMAN axin 2 80 cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding central_nervous_system(1)|skin(1) 2 AGTGTAAGGACTTGGTCCACC 0.567 Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome 70 183 --- --- --- --- PASS AXIN2 8313 broad.mit.edu 37 17 63554581 63554581 + Missense_Mutation SNP G C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr17:63554581G>C uc002jfi.2 - 2 447 c.158C>G c.(157-159)TCC>TGC p.S53C AXIN2_uc010den.1_Missense_Mutation_p.S53C|AXIN2_uc002jfh.2_Missense_Mutation_p.S53C|AXIN2_uc002jfj.1_Missense_Mutation_p.S53C NM_004655 NP_004646 Q9Y2T1 AXIN2_HUMAN axin 2 53 QPGVGKGQVTKPMSVSSNTRRNEDGL -> HHGGQGPGHQT HVCLFQHQAERRWV (in Ref. 2; AAF22799). cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding central_nervous_system(1)|skin(1) 2 CCTGGTGTTGGAAGAGACAGG 0.652 Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome 47 159 --- --- --- --- PASS CCDC46 201134 broad.mit.edu 37 17 63898350 63898350 + Missense_Mutation SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr17:63898350C>T uc002jfl.2 - 20 2302 c.2083G>A c.(2083-2085)GAA>AAA p.E695K CCDC46_uc010deo.2_Missense_Mutation_p.E437K|CCDC46_uc002jfm.2_Missense_Mutation_p.E695K|CCDC46_uc010dep.2_Missense_Mutation_p.E653K NM_145036 NP_659473 Q8N8E3 CE112_HUMAN coiled-coil domain containing 46 isoform a 695 Potential. centrosome 0 BRCA - Breast invasive adenocarcinoma(6;1.53e-06) TCCAGGTTTTCAATTTCCCGT 0.438 139 92 --- --- --- --- PASS BPTF 2186 broad.mit.edu 37 17 65914834 65914834 + Missense_Mutation SNP A G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr17:65914834A>G uc002jgf.2 + 12 5369 c.5308A>G c.(5308-5310)AGA>GGA p.R1770G BPTF_uc002jge.2_Missense_Mutation_p.R1896G NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1896 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) TTTCAGGTATAGACTTCAGAC 0.373 62 171 --- --- --- --- PASS BAIAP2 10458 broad.mit.edu 37 17 79080670 79080670 + Missense_Mutation SNP A T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr17:79080670A>T uc002jzg.2 + 12 1571 c.1463A>T c.(1462-1464)CAG>CTG p.Q488L BAIAP2_uc002jyz.3_Missense_Mutation_p.Q488L|BAIAP2_uc002jza.2_Missense_Mutation_p.Q488L|BAIAP2_uc002jzc.2_Missense_Mutation_p.Q489L|BAIAP2_uc002jzb.2_Missense_Mutation_p.Q245L|BAIAP2_uc002jzd.2_Missense_Mutation_p.Q488L|BAIAP2_uc002jzf.2_Missense_Mutation_p.Q488L|BAIAP2_uc002jze.2_Missense_Mutation_p.Q521L|BAIAP2_uc010wuh.1_Missense_Mutation_p.Q410L|BAIAP2_uc002jzh.2_Missense_Mutation_p.Q489L|BAIAP2_uc010wui.1_Missense_Mutation_p.Q351L NM_017451 NP_059345 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 isoform 2 488 axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding 0 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GGCTTCAAGCAGAGGCCCTAC 0.721 27 7 --- --- --- --- PASS C17orf56 146705 broad.mit.edu 37 17 79207258 79207258 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr17:79207258C>A uc002jzu.1 - 7 522 c.500G>T c.(499-501)GGC>GTC p.G167V C17orf56_uc002jzr.1_5'Flank|C17orf56_uc002jzs.1_Missense_Mutation_p.G15V|C17orf56_uc002jzt.1_Missense_Mutation_p.G15V|C17orf56_uc002jzv.1_Missense_Mutation_p.G15V|uc002jzw.1_RNA NM_144679 NP_653280 Q96N21 CQ056_HUMAN hypothetical protein LOC146705 167 integral to membrane 0 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CTTGCTGTAGCCGAAACCCTG 0.697 19 44 --- --- --- --- PASS EPB41L3 23136 broad.mit.edu 37 18 5424262 5424262 + Nonsense_Mutation SNP T A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr18:5424262T>A uc002kmt.1 - 10 1248 c.1162A>T c.(1162-1164)AGA>TGA p.R388* EPB41L3_uc010wzh.1_Nonsense_Mutation_p.R388*|EPB41L3_uc002kmu.1_Nonsense_Mutation_p.R388*|EPB41L3_uc010dkq.1_Nonsense_Mutation_p.R279*|EPB41L3_uc010dkr.2_5'Flank NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 388 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 TCTTCCTACCTGAAAAATGTA 0.308 95 148 --- --- --- --- PASS SLC14A2 8170 broad.mit.edu 37 18 43243838 43243838 + Silent SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr18:43243838C>T uc010dnj.2 + 12 1761 c.1440C>T c.(1438-1440)CAC>CAT p.H480H SLC14A2_uc002lbe.2_Silent_p.H480H NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 480 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GTGTATTTCACATCGAGTGGT 0.532 23 31 --- --- --- --- PASS KIAA1632 57724 broad.mit.edu 37 18 43502326 43502326 + Missense_Mutation SNP T C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr18:43502326T>C uc002lbm.2 - 16 3179 c.3079A>G c.(3079-3081)ATG>GTG p.M1027V KIAA1632_uc002lbo.1_Missense_Mutation_p.M1027V NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 1027 autophagy 0 ACAGCTGTCATAGATAAGGCT 0.483 38 33 --- --- --- --- PASS ZNF236 7776 broad.mit.edu 37 18 74622624 74622624 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr18:74622624G>T uc002lmi.2 + 16 2854 c.2656G>T c.(2656-2658)GTG>TTG p.V886L ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 886 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) AGGTTTTACAGTGACTGATAC 0.363 47 74 --- --- --- --- PASS SALL3 27164 broad.mit.edu 37 18 76752207 76752207 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr18:76752207C>A uc002lmt.2 + 2 216 c.216C>A c.(214-216)AGC>AGA p.S72R SALL3_uc010dra.2_5'Flank NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 72 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) ACCAGCGGAGCTGCACCAAGC 0.726 11 25 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9089943 9089943 + Silent SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr19:9089943G>T uc002mkp.2 - 1 2076 c.1872C>A c.(1870-1872)ACC>ACA p.T624T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 624 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGAGTAGGTGGGTTGTGCCCT 0.572 55 73 --- --- --- --- PASS CYP4F2 8529 broad.mit.edu 37 19 15989695 15989695 + Silent SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr19:15989695C>T uc002nbs.1 - 13 1499 c.1449G>A c.(1447-1449)GCG>GCA p.A483A CYP4F2_uc010xot.1_Silent_p.A334A NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 483 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 GCAGCGTGAGCGCCAGGACCA 0.682 33 42 --- --- --- --- PASS CYP4F2 8529 broad.mit.edu 37 19 15989720 15989720 + Missense_Mutation SNP A T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr19:15989720A>T uc002nbs.1 - 13 1474 c.1424T>A c.(1423-1425)ATG>AAG p.M475K CYP4F2_uc010xot.1_Missense_Mutation_p.M326K NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 475 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 CATCTCCGCCATCGCGAACGT 0.677 33 59 --- --- --- --- PASS JAK3 3718 broad.mit.edu 37 19 17937686 17937686 + Missense_Mutation SNP T A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr19:17937686T>A uc002nhn.3 - 24 3341 c.3241A>T c.(3241-3243)AGC>TGC p.S1081C JAK3_uc010ebh.2_Intron NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 1081 Protein kinase 2. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 56 TCCTGTGGGCTAGGGGCCCAG 0.632 2 Mis acute megakaryocytic leukemia| 48 82 --- --- --- --- PASS ZNF682 91120 broad.mit.edu 37 19 20117559 20117559 + Missense_Mutation SNP T A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr19:20117559T>A uc002noq.2 - 4 875 c.752A>T c.(751-753)CAT>CTT p.H251L ZNF682_uc002noo.2_Missense_Mutation_p.H219L|ZNF682_uc002nop.2_Missense_Mutation_p.H219L|ZNF682_uc010eck.2_Missense_Mutation_p.H175L NM_033196 NP_149973 O95780 ZN682_HUMAN zinc finger protein 682 isoform 1 251 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 CTCACCAGTATGGATTCTCTT 0.378 62 86 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22941562 22941562 + Silent SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr19:22941562G>T uc010xrh.1 - 5 876 c.876C>A c.(874-876)GCC>GCA p.A292A NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GTTTTCTAAGGGCTGACAAAT 0.368 44 65 --- --- --- --- PASS LGI4 163175 broad.mit.edu 37 19 35617547 35617547 + Missense_Mutation SNP A G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr19:35617547A>G uc002nxx.2 - 8 1520 c.926T>C c.(925-927)CTG>CCG p.L309P LGI4_uc002nxy.1_Missense_Mutation_p.L137P|LGI4_uc002nxz.1_Missense_Mutation_p.L137P NM_139284 NP_644813 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 309 extracellular region pancreas(1) 1 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) CCGCGGGGCCAGGGTCTGCGT 0.746 2 2 --- --- --- --- PASS FCGBP 8857 broad.mit.edu 37 19 40433441 40433441 + Silent SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr19:40433441C>A uc002omp.3 - 2 836 c.828G>T c.(826-828)CTG>CTT p.L276L NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 276 IgGFc-binding. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGTTGTAGGTCAGCTTTGTGG 0.592 40 47 --- --- --- --- PASS SHANK1 50944 broad.mit.edu 37 19 51219713 51219713 + Missense_Mutation SNP T C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr19:51219713T>C uc002psx.1 - 2 297 c.278A>G c.(277-279)GAT>GGT p.D93G NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 93 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) GATGGTGGCATCGGGGTTGAA 0.632 42 55 --- --- --- --- PASS CD33 945 broad.mit.edu 37 19 51738444 51738444 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr19:51738444G>A uc002pwa.2 + 5 818 c.778G>A c.(778-780)GGG>AGG p.G260R CD33_uc010eos.1_Missense_Mutation_p.G260R|CD33_uc010eot.1_Missense_Mutation_p.G133R|CD33_uc010eou.1_RNA NM_001772 NP_001763 P20138 CD33_HUMAN CD33 antigen isoform 1 precursor 260 Helical; (Potential). cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding 0 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) AGTGGTTCATGGGGCCATTGG 0.498 61 56 --- --- --- --- PASS ZNF615 284370 broad.mit.edu 37 19 52497080 52497080 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr19:52497080C>A uc002pye.1 - 6 1541 c.1249G>T c.(1249-1251)GTA>TTA p.V417L ZNF615_uc002pyf.1_Missense_Mutation_p.V428L|ZNF615_uc002pyg.1_Missense_Mutation_p.V309L|ZNF615_uc002pyh.1_Missense_Mutation_p.V428L|ZNF615_uc010epi.1_Missense_Mutation_p.V424L|ZNF615_uc010ydg.1_Missense_Mutation_p.V422L NM_198480 NP_940882 Q8N8J6 ZN615_HUMAN zinc finger protein 615 417 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) CGTTGATGTACCATGAGACAG 0.408 62 77 --- --- --- --- PASS VN1R4 317703 broad.mit.edu 37 19 53770896 53770896 + Missense_Mutation SNP A G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr19:53770896A>G uc010ydu.1 - 1 23 c.23T>C c.(22-24)GTG>GCG p.V8A NM_173857 NP_776256 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 8 Helical; Name=1; (Potential). response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(134;0.00294) GATCATTCCCACTGCCACATA 0.527 HNSCC(26;0.072) 25 46 --- --- --- --- PASS ZNF765 91661 broad.mit.edu 37 19 53905317 53905317 + Splice_Site SNP G C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr19:53905317G>C uc010ydx.1 + 5 343 c.16_splice c.e5-1 p.G6_splice ZNF765_uc002qbm.2_Splice_Site_p.G6_splice|ZNF765_uc002qbn.2_Splice_Site NM_001040185 NP_001035275 Q7L2R6 ZN765_HUMAN zinc finger protein 765 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00379) TTTCATTTCAGGGTCTATTGA 0.438 15 225 --- --- --- --- PASS ZNF761 388561 broad.mit.edu 37 19 53952764 53952764 + Splice_Site SNP G C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr19:53952764G>C uc010eqp.2 + 5 474 c.16_splice c.e5-1 p.G6_splice ZNF761_uc002qbr.2_Splice_Site|ZNF761_uc010ydy.1_Splice_Site|ZNF761_uc002qbs.2_Splice_Site|ZNF761_uc002qbt.1_5'Flank NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) TTTCATTTCAGGGTCTATTGA 0.433 35 43 --- --- --- --- PASS ZNF813 126017 broad.mit.edu 37 19 53989885 53989885 + Splice_Site SNP G C C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr19:53989885G>C uc002qbu.2 + 3 144 c.16_splice c.e3-1 p.G6_splice ZNF813_uc010eqq.1_Splice_Site NM_001004301 NP_001004301 Q6ZN06 ZN813_HUMAN zinc finger protein 813 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) TTTCATTTCAGGGTCTATTGA 0.443 12 199 --- --- --- --- PASS LILRA2 11027 broad.mit.edu 37 19 55086941 55086941 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr19:55086941C>A uc002qgg.3 + 5 963 c.874C>A c.(874-876)CAG>AAG p.Q292K LILRA2_uc010ern.2_Missense_Mutation_p.Q292K|LILRA2_uc002qgf.2_Missense_Mutation_p.Q292K|LILRA2_uc010yfe.1_Missense_Mutation_p.Q292K|LILRA2_uc010yff.1_Missense_Mutation_p.Q280K|LILRA2_uc010ero.2_Missense_Mutation_p.Q280K|LILRA2_uc010yfg.1_Intron NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 292 Ig-like C2-type 3.|Extracellular (Potential). defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) CCACGGGGGCCAGTACAGATG 0.662 73 73 --- --- --- --- PASS TNNI3 7137 broad.mit.edu 37 19 55665559 55665559 + Nonsense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr19:55665559G>A uc002qjg.3 - 7 388 c.388C>T c.(388-390)CAG>TAG p.Q130* TNNI3_uc010yft.1_Nonsense_Mutation_p.Q122* NM_000363 NP_000354 P19429 TNNI3_HUMAN troponin I, cardiac 130 Involved in binding TNC and actin. cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding lung(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) AAGATCTTCTGAGTCAGATCT 0.567 20 47 --- --- --- --- PASS ZSCAN1 284312 broad.mit.edu 37 19 58564960 58564960 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr19:58564960C>A uc002qrc.1 + 6 1015 c.768C>A c.(766-768)GAC>GAA p.D256E NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 256 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GGAACACTGACCAGAGCGGCC 0.632 26 38 --- --- --- --- PASS ZSCAN18 65982 broad.mit.edu 37 19 58596178 58596178 + Silent SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr19:58596178G>A uc002qri.2 - 7 1716 c.1407C>T c.(1405-1407)TAC>TAT p.Y469Y ZSCAN18_uc002qrj.3_Silent_p.Y468Y|ZSCAN18_uc010yhs.1_Silent_p.Y333Y|ZSCAN18_uc002qrh.2_Silent_p.Y469Y|ZSCAN18_uc010yht.1_Silent_p.Y525Y|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR NM_001145543 NP_001139015 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 469 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCCCCAGCGCGTAGCTTTTCT 0.721 4 7 --- --- --- --- PASS KIF16B 55614 broad.mit.edu 37 20 16359631 16359631 + Nonsense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr20:16359631C>A uc002wpg.1 - 19 3174 c.3016G>T c.(3016-3018)GAG>TAG p.E1006* KIF16B_uc002wpe.1_Nonsense_Mutation_p.E388*|KIF16B_uc002wpf.1_Nonsense_Mutation_p.E388*|KIF16B_uc010gch.1_Nonsense_Mutation_p.E1006*|KIF16B_uc010gci.1_Nonsense_Mutation_p.E1006*|KIF16B_uc010gcj.1_Nonsense_Mutation_p.E1017* NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 1006 Glu-rich.|Potential. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 AGGGCCCGCTCCAGCGCCTCT 0.542 84 110 --- --- --- --- PASS EMILIN3 90187 broad.mit.edu 37 20 39990279 39990279 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr20:39990279G>T uc002xjy.1 - 4 2154 c.1930C>A c.(1930-1932)CTT>ATT p.L644I NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 644 Potential. proteinaceous extracellular matrix ovary(1) 1 Myeloproliferative disorder(115;0.00425) CCAGCCTGAAGCCTGGAGCCT 0.647 13 22 --- --- --- --- PASS TP53RK 112858 broad.mit.edu 37 20 45315471 45315471 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr20:45315471G>A uc002xsk.2 - 2 906 c.683C>T c.(682-684)TCC>TTC p.S228F SLC13A3_uc002xsg.1_5'Flank|SLC13A3_uc010gho.1_5'Flank|TP53RK_uc002xsj.2_3'UTR NM_033550 NP_291028 Q96S44 PRPK_HUMAN p53-related protein kinase 228 Protein kinase. lipopolysaccharide biosynthetic process membrane|nucleus ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 Myeloproliferative disorder(115;0.0122) CTTTTTGGAGGAGGTGGAGTA 0.478 114 140 --- --- --- --- PASS COL20A1 57642 broad.mit.edu 37 20 61943356 61943356 + Silent SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr20:61943356G>T uc011aau.1 + 14 1852 c.1752G>T c.(1750-1752)GTG>GTT p.V584V COL20A1_uc011aav.1_Silent_p.V405V NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 584 Fibronectin type-III 4. cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) CGAGGCCTGTGCGCCTGGTCA 0.682 17 9 --- --- --- --- PASS COL20A1 57642 broad.mit.edu 37 20 61943357 61943357 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr20:61943357C>A uc011aau.1 + 14 1853 c.1753C>A c.(1753-1755)CGC>AGC p.R585S COL20A1_uc011aav.1_Missense_Mutation_p.R406S NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 585 Fibronectin type-III 4. cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) GAGGCCTGTGCGCCTGGTCAG 0.687 17 9 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10906938 10906938 + Missense_Mutation SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr21:10906938C>T uc002yip.1 - 24 1991 c.1623G>A c.(1621-1623)ATG>ATA p.M541I TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.M523I|TPTE_uc002yir.1_Missense_Mutation_p.M503I|TPTE_uc010gkv.1_Missense_Mutation_p.M403I NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 541 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CACTGGAAGTCATTTTCTCGC 0.383 14 93 --- --- --- --- PASS ITSN1 6453 broad.mit.edu 37 21 35144463 35144463 + Nonsense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr21:35144463G>T uc002yta.1 + 12 1409 c.1141G>T c.(1141-1143)GAG>TAG p.E381* DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Nonsense_Mutation_p.E381*|ITSN1_uc010gmg.2_Nonsense_Mutation_p.E344*|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Nonsense_Mutation_p.E381*|ITSN1_uc010gmi.2_Nonsense_Mutation_p.E344*|ITSN1_uc010gmj.2_Nonsense_Mutation_p.E265*|ITSN1_uc002ysy.2_Nonsense_Mutation_p.E381*|ITSN1_uc002ysx.2_Nonsense_Mutation_p.E344*|ITSN1_uc002ytb.1_Nonsense_Mutation_p.E381*|ITSN1_uc002ytc.1_Nonsense_Mutation_p.E381*|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Nonsense_Mutation_p.E344*|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Nonsense_Mutation_p.E381*|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Nonsense_Mutation_p.E315* NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 381 Potential.|KLERQ. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 CAAGGAGCAGGAGCGCCTGGC 0.532 21 23 --- --- --- --- PASS PDE9A 5152 broad.mit.edu 37 21 44185586 44185586 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr21:44185586C>A uc002zbm.2 + 15 1401 c.1338C>A c.(1336-1338)AAC>AAA p.N446K PDE9A_uc002zbn.2_Missense_Mutation_p.N319K|PDE9A_uc002zbo.2_Missense_Mutation_p.N393K|PDE9A_uc002zbp.2_Missense_Mutation_p.N239K|PDE9A_uc002zbq.2_Missense_Mutation_p.N344K|PDE9A_uc002zbs.2_Missense_Mutation_p.N239K|PDE9A_uc002zbr.2_Missense_Mutation_p.N239K|PDE9A_uc002zbt.2_Missense_Mutation_p.N318K|PDE9A_uc002zbu.2_Missense_Mutation_p.N312K|PDE9A_uc002zbv.2_Missense_Mutation_p.N286K|PDE9A_uc002zbw.2_Missense_Mutation_p.N229K|PDE9A_uc002zbx.2_Missense_Mutation_p.N386K|PDE9A_uc002zby.2_Missense_Mutation_p.N229K|PDE9A_uc002zbz.2_Missense_Mutation_p.N338K|PDE9A_uc002zca.2_Missense_Mutation_p.N405K|PDE9A_uc002zcb.2_Missense_Mutation_p.N420K|PDE9A_uc002zcc.2_Missense_Mutation_p.N345K|PDE9A_uc002zcd.2_Missense_Mutation_p.N360K|PDE9A_uc002zce.2_Missense_Mutation_p.N379K|PDE9A_uc002zcf.2_Missense_Mutation_p.N239K|PDE9A_uc002zcg.2_Missense_Mutation_p.N239K|PDE9A_uc002zch.2_Missense_Mutation_p.N229K|PDE9A_uc010gpf.1_Missense_Mutation_p.N239K NM_002606 NP_002597 O76083 PDE9A_HUMAN phosphodiesterase 9A isoform a 446 Catalytic (By similarity). platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|skin(1) 2 ACTACAGCAACGAGGAGCACA 0.498 10 21 --- --- --- --- PASS PKNOX1 5316 broad.mit.edu 37 21 44430176 44430176 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr21:44430176C>A uc002zcq.1 + 4 381 c.193C>A c.(193-195)CCA>ACA p.P65T PKNOX1_uc002zcp.1_Missense_Mutation_p.P65T|PKNOX1_uc011aex.1_Intron|PKNOX1_uc002zcr.2_Missense_Mutation_p.P65T NM_004571 NP_004562 P55347 PKNX1_HUMAN PBX/knotted 1 homeobox 1 65 sequence-specific DNA binding large_intestine(2) 2 TCCACTATTTCCATTATTAGC 0.378 30 69 --- --- --- --- PASS TXNRD2 10587 broad.mit.edu 37 22 19864684 19864684 + Silent SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr22:19864684G>A uc011ahc.1 - 17 1552 c.1519C>T c.(1519-1521)CTG>TTG p.L507L TXNRD2_uc002zql.1_Silent_p.L261L|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Silent_p.L506L|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_Silent_p.L157L NM_006440 NP_006431 Q9NNW7 TRXR2_HUMAN thioredoxin reductase 2 precursor 507 cell redox homeostasis|response to oxygen radical mitochondrion flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity ovary(2) 2 Colorectal(54;0.0993) GAGATGCGCAGCTTGACTACC 0.667 32 25 --- --- --- --- PASS HIC2 23119 broad.mit.edu 37 22 21799774 21799774 + Missense_Mutation SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr22:21799774C>T uc002zur.3 + 3 820 c.590C>T c.(589-591)TCA>TTA p.S197L HIC2_uc002zus.3_Missense_Mutation_p.S197L NM_015094 NP_055909 Q96JB3 HIC2_HUMAN hypermethylated in cancer 2 197 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding skin(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) GCCAAAGGCTCAGACGATGAA 0.672 13 23 --- --- --- --- PASS GALR3 8484 broad.mit.edu 37 22 38219752 38219752 + Silent SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr22:38219752G>A uc003aub.1 + 1 364 c.339G>A c.(337-339)CTG>CTA p.L113L NM_003614 NP_003605 O60755 GALR3_HUMAN galanin receptor 3 113 Helical; Name=3; (Potential). feeding behavior|learning or memory|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity 0 Melanoma(58;0.045) GCTTTACGCTGGCTGCTGTCT 0.652 26 30 --- --- --- --- PASS POLR3H 171568 broad.mit.edu 37 22 41928669 41928669 + Missense_Mutation SNP C G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr22:41928669C>G uc003baf.2 - 4 349 c.289G>C c.(289-291)GTG>CTG p.V97L POLR3H_uc003bae.2_RNA|POLR3H_uc003bag.2_Missense_Mutation_p.V97L|POLR3H_uc003bai.2_Intron NM_138338 NP_612211 Q9Y535 RPC8_HUMAN polymerase (RNA) III (DNA directed) polypeptide 97 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity skin(1) 1 TTACCGTGCACTCCTTCTGGG 0.552 OREG0026590 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 72 112 --- --- --- --- PASS NR0B1 190 broad.mit.edu 37 X 30326572 30326572 + Silent SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chrX:30326572G>A uc004dcf.3 - 1 924 c.909C>T c.(907-909)CGC>CGT p.R303R NM_000475 NP_000466 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 303 Ligand-binding (By similarity). adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding ovary(1)|lung(1) 2 Dexamethasone(DB01234)|Tretinoin(DB00755) CGAACTGCAAGCGGTCCTGGG 0.657 OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 2 --- --- --- --- PASS FAM47C 442444 broad.mit.edu 37 X 37028554 37028554 + Missense_Mutation SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chrX:37028554C>T uc004ddl.1 + 1 2085 c.2071C>T c.(2071-2073)CGC>TGC p.R691C NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 691 ovary(3) 3 ATCTCATCTCCGCCCAGAGCC 0.657 49 9 --- --- --- --- PASS FAM47C 442444 broad.mit.edu 37 X 37029564 37029564 + Missense_Mutation SNP C A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chrX:37029564C>A uc004ddl.1 + 1 3095 c.3081C>A c.(3079-3081)GAC>GAA p.D1027E NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 1027 ovary(3) 3 ACAAAGAAGACGTCACAGATG 0.383 96 14 --- --- --- --- PASS ZNF630 57232 broad.mit.edu 37 X 47920198 47920198 + Missense_Mutation SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chrX:47920198C>T uc004div.3 - 3 394 c.142G>A c.(142-144)GGG>AGG p.G48R ZNF630_uc010nhz.1_RNA|ZNF630_uc004diw.2_5'UTR NM_001037735 NP_001032824 Q2M218 ZN630_HUMAN zinc finger protein 630 48 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|lung(1) 2 CTGCCCTTACCCACGGAGACC 0.468 23 2 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 X 51150238 51150238 + Missense_Mutation SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chrX:51150238G>A uc004dpj.2 + 1 472 c.370G>A c.(370-372)GGG>AGG p.G124R NM_203407 NP_981952 hypothetical protein LOC340602 GGCCGCTGTGGGGCCCCAGAA 0.682 5 0 --- --- --- --- PASS GSPT2 23708 broad.mit.edu 37 X 51488591 51488591 + Silent SNP G A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chrX:51488591G>A uc004dpl.2 + 1 2095 c.1869G>A c.(1867-1869)TTG>TTA p.L623L NM_018094 NP_060564 Q8IYD1 ERF3B_HUMAN peptide chain release factor 3 623 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding ovary(1) 1 Ovarian(276;0.236) TTCTGAAATTGGTCCCAGAGA 0.418 35 6 --- --- --- --- PASS SMC1A 8243 broad.mit.edu 37 X 53440302 53440302 + Silent SNP C T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chrX:53440302C>T uc004dsg.2 - 4 564 c.495G>A c.(493-495)GCG>GCA p.A165A SMC1A_uc011moe.1_Silent_p.A143A|SMC1A_uc011mof.1_Intron|SMC1A_uc004dsi.1_Silent_p.A31A NM_006306 NP_006297 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 165 Potential. cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity ovary(5)|central_nervous_system(1) 6 CATACTCCTGCGCCAGCTCCC 0.463 4 106 --- --- --- --- PASS KLHL4 56062 broad.mit.edu 37 X 86869560 86869560 + Missense_Mutation SNP G T T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chrX:86869560G>T uc004efb.2 + 3 896 c.714G>T c.(712-714)CAG>CAT p.Q238H KLHL4_uc004efa.2_Missense_Mutation_p.Q238H NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 238 BTB. cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 CCTTGGTGCAGTATGCTTACA 0.348 39 6 --- --- --- --- PASS MAGEA12 4111 broad.mit.edu 37 X 151900150 151900150 + Silent SNP A G G TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chrX:151900150A>G uc010ntp.2 - 3 1005 c.651T>C c.(649-651)CCT>CCC p.P217P MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Silent_p.P217P NM_005367 NP_005358 P43365 MAGAC_HUMAN melanoma antigen family A, 12 217 MAGE. skin(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) TTTTCTCCTCAGGGGCACAGT 0.562 118 15 --- --- --- --- PASS ARID1A 8289 broad.mit.edu 37 1 27056326 27056326 + Frame_Shift_Del DEL C - - TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr1:27056326delC uc001bmv.1 + 2 1695 c.1322delC c.(1321-1323)GCCfs p.A441fs ARID1A_uc001bmt.1_Frame_Shift_Del_p.A441fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.A441fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.A58fs NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 441 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCGCAGAGTGCCATGGGCGGC 0.572 Mis|N|F|S|D clear cell ovarian carcinoma|RCC 10 51 --- --- --- --- Unknown 0 broad.mit.edu 37 2 98090956 98090957 + RNA DEL TT - - TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr2:98090956_98090957delTT uc002sxv.3 - 1 c.93_94delAA Homo sapiens cDNA clone IMAGE:5217021, with apparent retained intron. ggcctgaagattgtgtgtgtgt 0.000 4 2 --- --- --- --- MAGI1 9223 broad.mit.edu 37 3 65415803 65415821 + Splice_Site DEL ACAATCACATCCCCTGTAG - - TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr3:65415803_65415821delACAATCACATCCCCTGTAG uc003dmn.2 - 12 2073 c.1547_splice c.e12-1 p.G516_splice MAGI1_uc003dmm.2_Splice_Site_p.G516_splice|MAGI1_uc003dmo.2_Splice_Site_p.G516_splice|MAGI1_uc003dmp.2_Splice_Site_p.G516_splice|MAGI1_uc010hny.2_Splice_Site_p.G401_splice NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1) 6 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) ATTCACACTTACAATCACATCCCCTGTAGAAGGCAAGAG 0.452 17 15 --- --- --- --- SPEF2 79925 broad.mit.edu 37 5 35740020 35740020 + Splice_Site DEL G - - TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr5:35740020delG uc003jjo.2 + 22 3175 c.3064_splice c.e22-1 p.E1022_splice SPEF2_uc003jjp.1_Splice_Site_p.E508_splice NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCATTTAACAGGAAATGCCTT 0.353 90 58 --- --- --- --- FAM69B 138311 broad.mit.edu 37 9 139616693 139616694 + Frame_Shift_Ins INS - A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr9:139616693_139616694insA uc004cik.2 + 4 517_518 c.423_424insA c.(421-426)GACAAGfs p.D141fs FAM69B_uc004cil.2_Frame_Shift_Ins_p.D54fs|SNHG7_uc004cim.2_RNA NM_152421 NP_689634 Q5VUD6 FA69B_HUMAN hypothetical protein LOC138311 141_142 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane 0 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013) TACTGTTTGACAAGCCCACCCG 0.634 66 40 --- --- --- --- MALAT1 378938 broad.mit.edu 37 11 65265274 65265275 + RNA INS - A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr11:65265274_65265275insA uc010roh.1 + 1 c.42_43insA NR_002819 Homo sapiens clone alpha1 mRNA sequence. 0 CCTGCCCTCTTAAGCGCAGCGC 0.683 74 64 --- --- --- --- ELMOD1 55531 broad.mit.edu 37 11 107502374 107502375 + Frame_Shift_Ins INS - A A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr11:107502374_107502375insA uc010rvs.1 + 5 665_666 c.261_262insA c.(259-264)CTGAAAfs p.L87fs ELMOD1_uc001pjm.2_Frame_Shift_Ins_p.L87fs|ELMOD1_uc010rvt.1_Frame_Shift_Ins_p.L81fs NM_018712 NP_061182 Q8N336 ELMD1_HUMAN ELMO/CED-12 domain containing 1 isoform 1 87_88 phagocytosis cytoskeleton GTPase activator activity 0 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481) TCATGGAACTGAAAAAAATTAA 0.356 10 5 --- --- --- --- SLC17A8 246213 broad.mit.edu 37 12 100796198 100796200 + In_Frame_Del DEL GAG - - TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr12:100796198_100796200delGAG uc010svi.1 + 7 1157_1159 c.844_846delGAG c.(844-846)GAGdel p.E283del SLC17A8_uc009ztx.2_In_Frame_Del_p.E283del NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 283 Cytoplasmic (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 AATATCCAATGAGGAGAAGACCT 0.409 52 35 --- --- --- --- ZFP36L1 677 broad.mit.edu 37 14 69256600 69256613 + Frame_Shift_Del DEL GGCTGTCCAGCAGC - - TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr14:69256600_69256613delGGCTGTCCAGCAGC uc001xkh.1 - 2 784_797 c.654_667delGCTGCTGGACAGCC c.(652-669)GGGCTGCTGGACAGCCCCfs p.G218fs ZFP36L1_uc001xki.1_Frame_Shift_Del_p.G218fs NM_004926 NP_004917 Q07352 TISB_HUMAN butyrate response factor 1 218_223 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) ATGGACGTGGGGCTGTCCAGCAGCCcggtggcag 0.565 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 122 58 --- --- --- --- ADAM6 8755 broad.mit.edu 37 14 106774086 106774087 + Splice_Site INS - AGTAATACACGGCA AGTAATACACGGCA TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr14:106774086_106774087insAGTAATACACGGCA uc010tyt.1 - 430 c.15674_splice c.e430+1 Parts of antibodies, mostly variable regions. 0 GCCTCTTGCACGTGTCCTCAGC 0.550 11 5 --- --- --- --- MEGF8 1954 broad.mit.edu 37 19 42856450 42856450 + Frame_Shift_Del DEL T - - TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chr19:42856450delT uc002otl.3 + 18 3626 c.2991delT c.(2989-2991)CCTfs p.P997fs MEGF8_uc002otm.3_Frame_Shift_Del_p.P605fs NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1064 Extracellular (Potential). integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) TGGCCCTCCCTGCCCGCTGGG 0.721 9 8 --- --- --- --- ALG13 79868 broad.mit.edu 37 X 110970594 110970594 + Frame_Shift_Del DEL C - - TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 2498ada2-b8d3-4220-8283-45af67a8119a 899abba0-6baf-487d-b913-ac6ffc6ac078 g.chrX:110970594delC uc011msy.1 + 17 2045 c.2011delC c.(2011-2013)CCGfs p.P671fs ALG13_uc011msx.1_Frame_Shift_Del_p.P567fs|ALG13_uc011msz.1_Frame_Shift_Del_p.P593fs|ALG13_uc011mta.1_Frame_Shift_Del_p.P567fs|ALG13_uc011mtb.1_Frame_Shift_Del_p.P567fs Q9NP73 ALG13_HUMAN SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae); 671 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity lung(1) 1 GCACAACATGCCGGGCCCTAA 0.398 2 31 --- --- --- ---