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 RHCE 6006 broad.mit.edu 37 1 25712312 25712312 + Silent SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr1:25712312C>T uc001bkf.2 - 7 1049 c.963G>A c.(961-963)GGG>GGA p.G321G RHCE_uc001bkg.2_Intron|RHCE_uc001bkh.2_Silent_p.G216G|RHCE_uc001bki.2_Silent_p.G170G|RHCE_uc001bkj.2_Silent_p.G305G NM_020485 NP_065231 P18577 RHCE_HUMAN Rhesus blood group, CcEe antigens isoform 1 321 integral to plasma membrane 0 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649) TGTGGTGAATCCCCAGCACTC 0.512 LRRC7 57554 broad.mit.edu 37 1 70503883 70503883 + Silent SNP T T C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr1:70503883T>C uc001dep.2 + 19 2292 c.2262T>C c.(2260-2262)CGT>CGC p.R754R LRRC7_uc009wbg.2_Silent_p.R38R|LRRC7_uc001deq.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 754 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TACCACAGCGTCCTGACCGGC 0.517 SLC44A5 204962 broad.mit.edu 37 1 75680342 75680342 + Missense_Mutation SNP A A C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr1:75680342A>C uc001dgu.2 - 20 1894 c.1750T>G c.(1750-1752)TTC>GTC p.F584V SLC44A5_uc001dgt.2_Missense_Mutation_p.F584V|SLC44A5_uc001dgs.2_Missense_Mutation_p.F542V|SLC44A5_uc001dgr.2_Missense_Mutation_p.F542V|SLC44A5_uc010oqz.1_Missense_Mutation_p.F623V|SLC44A5_uc010ora.1_Missense_Mutation_p.F578V|SLC44A5_uc010orb.1_Missense_Mutation_p.F454V NM_152697 NP_689910 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 isoform A 584 Cytoplasmic (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity ovary(2)|skin(2) 4 GACCTGCAGAAGTTTCTGCCA 0.383 COL24A1 255631 broad.mit.edu 37 1 86241374 86241374 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr1:86241374C>T uc001dlj.2 - 53 4399 c.4357G>A c.(4357-4359)GGC>AGC p.G1453S COL24A1_uc001dli.2_Missense_Mutation_p.G589S|COL24A1_uc010osd.1_Missense_Mutation_p.G753S|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_Intron NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 1453 Collagen-like 17. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) CCTCTAAAGCCCTTTTCACCT 0.244 ITGA10 8515 broad.mit.edu 37 1 145537786 145537786 + Missense_Mutation SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr1:145537786G>A uc001eoa.2 + 21 2700 c.2624G>A c.(2623-2625)CGG>CAG p.R875Q NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.R744Q|ITGA10_uc009wiw.2_Missense_Mutation_p.R732Q|ITGA10_uc010oyw.1_Missense_Mutation_p.R820Q NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 875 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCTCATGCCCGGCTCTGCAGT 0.592 LCE1A 353131 broad.mit.edu 37 1 152800031 152800031 + Missense_Mutation SNP A A C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr1:152800031A>C uc010pdw.1 + 1 83 c.83A>C c.(82-84)AAG>ACG p.K28T NM_178348 NP_848125 Q5T7P2 LCE1A_HUMAN late cornified envelope 1A 28 Cys-rich. keratinization ovary(1)|skin(1) 2 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) cccactcctaagtgcccccca 0.423 SPTA1 6708 broad.mit.edu 37 1 158654936 158654936 + Silent SNP A A G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr1:158654936A>G uc001fst.1 - 2 425 c.226T>C c.(226-228)TTA>CTA p.L76L NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 76 Spectrin 2. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TTATCGGTTAAGATATTGACT 0.284 PAPPA2 60676 broad.mit.edu 37 1 176668606 176668606 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr1:176668606G>A uc001gkz.2 + 8 4281 c.3117G>A c.(3115-3117)CAG>CAA p.Q1039Q PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1039 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TGACTTCTCAGCCCCACAGTC 0.557 ASTN1 460 broad.mit.edu 37 1 176992545 176992545 + Missense_Mutation SNP T T C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr1:176992545T>C uc001glc.2 - 7 1645 c.1433A>G c.(1432-1434)GAA>GGA p.E478G ASTN1_uc001glb.1_Missense_Mutation_p.E478G|ASTN1_uc001gld.1_Missense_Mutation_p.E478G|ASTN1_uc009wwx.1_Missense_Mutation_p.E478G|ASTN1_uc001gle.3_RNA NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 478 EGF-like 1. cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 CCTACCAGTTTCGGGGTCACA 0.597 KCNT2 343450 broad.mit.edu 37 1 196309524 196309524 + Missense_Mutation SNP G G A rs140538298 TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr1:196309524G>A uc001gtd.1 - 16 1790 c.1730C>T c.(1729-1731)TCG>TTG p.S577L KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.S527L|KCNT2_uc001gtf.1_Missense_Mutation_p.S577L|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.S577L|KCNT2_uc001gth.1_Missense_Mutation_p.S98L NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 577 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 ATGATAAAACGACCTGGACAC 0.299 OBSCN 84033 broad.mit.edu 37 1 228432100 228432100 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr1:228432100G>A uc009xez.1 + 11 3353 c.3309G>A c.(3307-3309)ACG>ACA p.T1103T OBSCN_uc001hsn.2_Silent_p.T1103T NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1103 Ig-like 11. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) AGGCCCAGACGGAGGTGACGT 0.602 CHML 1122 broad.mit.edu 37 1 241797705 241797705 + Missense_Mutation SNP G G C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr1:241797705G>C uc001hzd.2 - 1 1528 c.1364C>G c.(1363-1365)TCT>TGT p.S455C OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron NM_001821 NP_001812 P26374 RAE2_HUMAN choroideremia-like Rab escort protein 2 455 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity ovary(4)|skin(2) 6 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) TACTGCCCTAGAGATCTGCTT 0.388 OR2T6 254879 broad.mit.edu 37 1 248551519 248551519 + Missense_Mutation SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr1:248551519G>A uc001iei.1 + 1 610 c.610G>A c.(610-612)GTT>ATT p.V204I NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 204 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 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) TGTGTGCTGCGTTGCAATGCT 0.517 ZWINT 11130 broad.mit.edu 37 10 58120973 58120973 + Nonsense_Mutation SNP C C A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr10:58120973C>A uc001jjx.1 - 1 62 c.25G>T c.(25-27)GAA>TAA p.E9* ZWINT_uc001jjy.1_Nonsense_Mutation_p.E9*|ZWINT_uc001jka.1_Nonsense_Mutation_p.E9*|ZWINT_uc009xoy.1_RNA NM_007057 NP_008988 O95229 ZWINT_HUMAN ZW10 interactor isoform a 9 cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding 0 GCTGCAGCTTCCGCCTCTGTC 0.592 PNLIPRP3 119548 broad.mit.edu 37 10 118236283 118236283 + Missense_Mutation SNP A A C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr10:118236283A>C uc001lcl.3 + 11 1393 c.1292A>C c.(1291-1293)AAG>ACG p.K431T NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 431 PLAT. lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) TCTCAGAATAAGTTGGGAGCA 0.303 OR51A7 119687 broad.mit.edu 37 11 4928970 4928970 + Missense_Mutation SNP T T G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr11:4928970T>G uc010qyq.1 + 1 371 c.371T>G c.(370-372)CTT>CGT p.L124R NM_001004749 NP_001004749 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, 124 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 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) GACCGCTTTCTTGCCATTCAC 0.393 ZNF214 7761 broad.mit.edu 37 11 7022511 7022511 + Missense_Mutation SNP T T G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr11:7022511T>G uc001mfa.2 - 3 706 c.403A>C c.(403-405)AAT>CAT p.N135H ZNF214_uc010ray.1_Missense_Mutation_p.N135H|ZNF214_uc009yfh.1_Missense_Mutation_p.N135H NM_013249 NP_037381 Q9UL59 ZN214_HUMAN zinc finger protein 214 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) GGCATAAAATTTTTATATTTT 0.398 NELL1 4745 broad.mit.edu 37 11 20907013 20907013 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr11:20907013C>T uc001mqe.2 + 5 683 c.530C>T c.(529-531)CCT>CTT p.P177L NELL1_uc001mqf.2_Missense_Mutation_p.P177L|NELL1_uc009yid.2_Missense_Mutation_p.P205L|NELL1_uc010rdo.1_Missense_Mutation_p.P120L|NELL1_uc010rdp.1_Intron NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 177 TSP N-terminal. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 GTGATAGACCCTCCAGATACC 0.413 BDNF 627 broad.mit.edu 37 11 27680025 27680025 + Missense_Mutation SNP T T G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr11:27680025T>G uc010rdu.1 - 2 938 c.87A>C c.(85-87)CAA>CAC p.Q29H BDNFOS_uc001mrm.2_Intron|BDNFOS_uc009yij.2_RNA|BDNFOS_uc009yik.2_Intron|BDNFOS_uc009yil.2_RNA|BDNFOS_uc001mrp.2_Intron|BDNFOS_uc009yim.2_RNA|BDNFOS_uc009yin.2_Intron|BDNFOS_uc009yio.2_RNA|BDNFOS_uc009yip.2_RNA|BDNFOS_uc001mrn.2_Intron|BDNFOS_uc009yiq.2_RNA|BDNFOS_uc001mro.2_Intron|BDNFOS_uc009yir.2_RNA|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_Intron|BDNFOS_uc009yiu.2_RNA|BDNFOS_uc009yiv.2_Intron|BDNFOS_uc009yiw.2_RNA|BDNFOS_uc009yix.2_Intron|BDNFOS_uc009yiy.2_RNA|BDNFOS_uc009yiz.2_RNA|BDNFOS_uc001mrq.3_Intron|BDNFOS_uc001mrr.3_Intron|BDNFOS_uc009yja.2_Intron|BDNFOS_uc009yjb.2_RNA|BDNF_uc010rdv.1_Missense_Mutation_p.Q29H|BDNF_uc001mrt.2_Missense_Mutation_p.Q44H|BDNF_uc010rdw.1_Missense_Mutation_p.Q29H|BDNF_uc009yjd.2_Missense_Mutation_p.Q29H|BDNF_uc001mru.2_Missense_Mutation_p.Q29H|BDNF_uc010rdx.1_Missense_Mutation_p.Q29H|BDNF_uc010rdy.1_Missense_Mutation_p.Q29H|BDNF_uc009yjg.2_Missense_Mutation_p.Q29H|BDNF_uc009yje.2_Missense_Mutation_p.Q111H|BDNF_uc009yjf.2_Missense_Mutation_p.Q58H|BDNF_uc001mrv.2_Missense_Mutation_p.Q29H|BDNF_uc001mrw.3_Missense_Mutation_p.Q29H|BDNF_uc001mrx.2_Missense_Mutation_p.Q29H|BDNF_uc001mry.3_Missense_Mutation_p.Q29H|BDNF_uc001mrz.3_Missense_Mutation_p.Q29H|BDNF_uc001msa.2_Missense_Mutation_p.Q37H NM_001143816 NP_001137288 P23560 BDNF_HUMAN brain-derived neurotrophic factor isoform a 29 extracellular region growth factor activity 0 CCAAGCCACCTTGTCCTCGGA 0.512 OR5M3 219482 broad.mit.edu 37 11 56237885 56237885 + Missense_Mutation SNP A A G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr11:56237885A>G uc010rjk.1 - 1 89 c.89T>C c.(88-90)CTT>CCT p.L30P NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, 30 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GTAGACCACAAGAAAGATGAT 0.438 TNKS1BP1 85456 broad.mit.edu 37 11 57068505 57068505 + Missense_Mutation SNP C C T rs144895600 byFrequency TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr11:57068505C>T uc001njr.2 - 9 5294 c.4982G>A c.(4981-4983)CGC>CAC p.R1661H TNKS1BP1_uc001njp.2_Missense_Mutation_p.R233H|TNKS1BP1_uc001njq.2_Missense_Mutation_p.R234H|TNKS1BP1_uc001njs.2_Missense_Mutation_p.R1661H NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 1661 Arg/Glu/Lys-rich (charged). nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) ATTCCGGGGGCGCAGCTTGGC 0.577 PELI3 246330 broad.mit.edu 37 11 66236332 66236332 + Missense_Mutation SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr11:66236332G>A uc001oic.3 + 3 345 c.181G>A c.(181-183)GAG>AAG p.E61K PELI3_uc001oib.2_Missense_Mutation_p.E61K|PELI3_uc001oid.3_Intron|PELI3_uc001oie.3_Intron NM_145065 NP_659502 Q8N2H9 PELI3_HUMAN pellino 3 alpha isoform 1 61 cytosol protein binding ovary(1) 1 tgaggaaaccgaggctcagag 0 C11orf51 25906 broad.mit.edu 37 11 71820961 71820961 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr11:71820961C>T uc001orw.2 - 6 554 c.332G>A c.(331-333)GGC>GAC p.G111D LRTOMT_uc010rqv.1_3'UTR|LRTOMT_uc010rqw.1_3'UTR|LRTOMT_uc001ors.3_3'UTR|C11orf51_uc009ytc.1_Intron|C11orf51_uc001orv.2_Missense_Mutation_p.G115D NM_014042 NP_054761 P60006 CK051_HUMAN hypothetical protein LOC25906 111 Asp-rich. intracellular 0 CTGTTCGTTGCCTTCCATGTC 0.622 C2CD3 26005 broad.mit.edu 37 11 73829385 73829385 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr11:73829385C>T uc001ouu.2 - 9 1635 c.1408G>A c.(1408-1410)GAT>AAT p.D470N C2CD3_uc001ouv.2_Missense_Mutation_p.D470N NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 470 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) GGGACGATATCATCCTCTTCA 0.428 FAT3 120114 broad.mit.edu 37 11 92086977 92086977 + Nonsense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr11:92086977C>T uc001pdj.3 + 1 1716 c.1699C>T c.(1699-1701)CGA>TGA p.R567* NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 567 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGTGACTATTCGAATAGGAAA 0.438 TCGA Ovarian(4;0.039) GNB3 2784 broad.mit.edu 37 12 6953130 6953130 + Missense_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr12:6953130C>G uc001qrd.2 + 9 1092 c.687C>G c.(685-687)ATC>ATG p.I229M GNB3_uc001qrc.2_Missense_Mutation_p.I185M|GNB3_uc009zfe.2_Missense_Mutation_p.I228M NM_002075 NP_002066 P16520 GBB3_HUMAN guanine nucleotide-binding protein, beta-3 229 WD 5. cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission plasma membrane GTPase activity|GTPase binding|signal transducer activity 0 AGTCGGACATCAACGCCATCT 0.582 PZP 5858 broad.mit.edu 37 12 9315222 9315222 + Missense_Mutation SNP T T G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr12:9315222T>G uc001qvl.2 - 22 2788 c.2759A>C c.(2758-2760)AAG>ACG p.K920T PZP_uc009zgl.2_Missense_Mutation_p.K706T|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Intron NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 ACTGAAAGTCTTTTCTTGCTC 0.393 SLC2A13 114134 broad.mit.edu 37 12 40223997 40223997 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr12:40223997G>A uc010skm.1 - 7 1404 c.1353C>T c.(1351-1353)TGC>TGT p.C451C C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Silent_p.C98C NM_052885 NP_443117 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose 451 Extracellular (Potential). integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity ovary(1) 1 Lung NSC(34;0.105)|all_lung(34;0.123) AGCAGAAACCGCAGTCTGGAT 0.423 HNSCC(50;0.14) LIN7A 8825 broad.mit.edu 37 12 81242079 81242079 + Missense_Mutation SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr12:81242079G>A uc001szj.1 - 3 417 c.224C>T c.(223-225)ACG>ATG p.T75M LIN7A_uc001szk.1_RNA NM_004664 NP_004655 O14910 LIN7A_HUMAN lin-7 homolog A 75 L27. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding ovary(1)|skin(1) 2 AACAGTTATCGTTTCATGCAT 0.323 SBNO1 55206 broad.mit.edu 37 12 123810084 123810084 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr12:123810084G>A uc010tap.1 - 14 1938 c.1938C>T c.(1936-1938)GGC>GGT p.G646G SBNO1_uc010tao.1_Silent_p.G645G|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Silent_p.G646G|SBNO1_uc001ueu.2_Silent_p.G645G|SBNO1_uc001uev.2_Silent_p.G644G|SBNO1_uc009zxy.1_Silent_p.G611G NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 646 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) ATTCTCCCCCGCCCTCTTCCA 0.338 DHX37 57647 broad.mit.edu 37 12 125473527 125473527 + Missense_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr12:125473527C>G uc001ugy.2 - 1 141 c.42G>C c.(40-42)CAG>CAC p.Q14H NM_032656 NP_116045 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 14 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) GGCCCGCCTGCTGGCGCCCCT 0.706 MIA2 117153 broad.mit.edu 37 14 39716682 39716682 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr14:39716682C>T uc001wux.2 + 4 1098 c.904C>T c.(904-906)CCC>TCC p.P302S MIA2_uc010amy.1_Missense_Mutation_p.P233S NM_054024 NP_473365 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 302 extracellular region ovary(1)|breast(1) 2 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) AGAGCACATTCCCAAACCTCA 0.408 CASC5 57082 broad.mit.edu 37 15 40914809 40914809 + Missense_Mutation SNP G G C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr15:40914809G>C uc010bbs.1 + 11 2586 c.2425G>C c.(2425-2427)GGT>CGT p.G809R CASC5_uc010ucq.1_Missense_Mutation_p.G633R|CASC5_uc001zme.2_Missense_Mutation_p.G783R|CASC5_uc010bbt.1_Missense_Mutation_p.G783R NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 809 acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) ACAAGAACTTGGTAAAACTAA 0.363 C15orf27 123591 broad.mit.edu 37 15 76467994 76467994 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr15:76467994G>A uc002bbq.2 + 8 902 c.747G>A c.(745-747)ACG>ACA p.T249T C15orf27_uc010bkp.2_Silent_p.T65T|C15orf27_uc002bbr.2_Silent_p.T65T NM_152335 NP_689548 Q2M3C6 CO027_HUMAN hypothetical protein LOC123591 249 Potential. integral to membrane 0 AGAGGCTGACGCAGATCTGTC 0.512 WDR93 56964 broad.mit.edu 37 15 90258251 90258251 + Silent SNP G G A rs143108236 TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr15:90258251G>A uc002boj.2 + 6 782 c.681G>A c.(679-681)AAG>AAA p.K227K WDR93_uc010bnr.2_Silent_p.K227K NM_020212 NP_064597 Q6P2C0 WDR93_HUMAN WD repeat domain 93 227 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH ovary(2) 2 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) AATTGCCCAAGGAGACTTGGC 0.458 LUC7L 55692 broad.mit.edu 37 16 239282 239282 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr16:239282C>T uc002cgc.1 - 10 1142 c.1031G>A c.(1030-1032)CGA>CAA p.R344Q LUC7L_uc002cga.1_3'UTR|LUC7L_uc002cgd.1_RNA|LUC7L_uc002cge.1_3'UTR|LUC7L_uc002cgb.1_Missense_Mutation_p.R258Q NM_201412 NP_958815 Q9NQ29 LUC7L_HUMAN LUC7-like isoform b 344 Arg/Ser-rich. metal ion binding central_nervous_system(1) 1 all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306) CGGGGGCCCTCGCTCGCTCCG 0.657 RNF40 9810 broad.mit.edu 37 16 30779227 30779227 + Missense_Mutation SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr16:30779227G>A uc002dzq.2 + 12 1565 c.1442G>A c.(1441-1443)CGT>CAT p.R481H RNF40_uc010caa.2_Missense_Mutation_p.R481H|RNF40_uc010cab.2_Missense_Mutation_p.R381H|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.R481H|RNF40_uc010vfb.1_Missense_Mutation_p.R173H|RNF40_uc010vfc.1_5'Flank NM_014771 NP_055586 O75150 BRE1B_HUMAN ring finger protein 40 481 Potential. histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1) 1 Colorectal(24;0.198) CCCATCAACCGTGAGATGCGC 0.532 GPR56 9289 broad.mit.edu 37 16 57685210 57685210 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr16:57685210C>T uc002emb.2 + 4 455 c.163C>T c.(163-165)CGC>TGC p.R55C GPR56_uc002elz.1_Intron|GPR56_uc002ema.1_5'UTR|GPR56_uc002emc.2_Missense_Mutation_p.R55C|GPR56_uc002emf.2_Missense_Mutation_p.R55C|GPR56_uc010vhs.1_Missense_Mutation_p.R55C|GPR56_uc002emd.2_Missense_Mutation_p.R55C|GPR56_uc002eme.2_Missense_Mutation_p.R55C|GPR56_uc010vht.1_Missense_Mutation_p.R60C|GPR56_uc002emg.3_Missense_Mutation_p.R55C|GPR56_uc010vhu.1_5'UTR NM_005682 NP_005673 Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 isoform a 55 Extracellular (Potential). brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity 0 ACCAGACCTGCGCATCTCCAT 0.627 TP53 7157 broad.mit.edu 37 17 7578403 7578403 + Missense_Mutation SNP C C A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr17:7578403C>A uc002gim.2 - 5 721 c.527G>T c.(526-528)TGC>TTC p.C176F TP53_uc002gig.1_Missense_Mutation_p.C176F|TP53_uc002gih.2_Missense_Mutation_p.C176F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C44F|TP53_uc010cng.1_Missense_Mutation_p.C44F|TP53_uc002gii.1_Missense_Mutation_p.C44F|TP53_uc010cnh.1_Missense_Mutation_p.C176F|TP53_uc010cni.1_Missense_Mutation_p.C176F|TP53_uc002gij.2_Missense_Mutation_p.C176F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C83F|TP53_uc002gio.2_Missense_Mutation_p.C44F|TP53_uc010vug.1_Missense_Mutation_p.C137F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 176 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Zinc. CP -> FS (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|C -> F (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.C176F(102)|p.C176Y(56)|p.C176S(19)|p.C176W(11)|p.C176R(8)|p.C176fs*71(7)|p.0?(7)|p.C176*(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176G(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.C44Y(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.C83Y(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C176fs*6(1)|p.R174fs*3(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) ATGGTGGGGGCAGCGCCTCAC 0.652 111 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) GAS2L2 246176 broad.mit.edu 37 17 34072128 34072128 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr17:34072128G>A uc002hjv.1 - 6 2416 c.2388C>T c.(2386-2388)CCC>CCT p.P796P NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 796 cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCAGTGGCCTGGGGATTCGTG 0.642 KRTAP9-8 83901 broad.mit.edu 37 17 39394378 39394378 + Silent SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr17:39394378C>G uc002hwh.3 + 1 109 c.75C>G c.(73-75)ACC>ACG p.T25T KRTAP9-9_uc010wfq.1_Intron NM_031963 NP_114169 Q9BYQ0 KRA98_HUMAN keratin associated protein 9.8 25 15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI]. keratin filament ovary(1) 1 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCACTGTGACCACCTGCAGCA 0.622 STAP2 55620 broad.mit.edu 37 19 4325405 4325405 + Nonsense_Mutation SNP C C A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr19:4325405C>A uc002mab.2 - 10 1064 c.967G>T c.(967-969)GAG>TAG p.E323* STAP2_uc002mac.2_Nonsense_Mutation_p.E323*|STAP2_uc002mad.2_Nonsense_Mutation_p.E216* NM_001013841 NP_001013863 Q9UGK3 STAP2_HUMAN signal transducing adaptor family member 2 323 Pro-rich. cytoplasm|nucleus protein binding central_nervous_system(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) TCTTGGTTCTCATAGTCAACA 0.562 UHRF1 29128 broad.mit.edu 37 19 4947120 4947120 + Missense_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr19:4947120C>G uc002mbo.2 + 11 1582 c.1414C>G c.(1414-1416)CAT>GAT p.H472D UHRF1_uc010xik.1_RNA|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.H485D NM_001048201 NP_001041666 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 472 YDG.|Methyl-CpG binding and interaction with HDAC1. cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) GTTTCAGGACCATGGGAATTT 0.433 ZNF358 140467 broad.mit.edu 37 19 7585158 7585158 + Missense_Mutation SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr19:7585158G>A uc002mgn.2 + 2 1200 c.1030G>A c.(1030-1032)GAG>AAG p.E344K MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank NM_018083 NP_060553 Q9NW07 ZN358_HUMAN zinc finger protein 358 344 embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 CCACACGGGCGAGCGGCCCTA 0.692 GTPBP3 84705 broad.mit.edu 37 19 17450362 17450362 + Missense_Mutation SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr19:17450362G>A uc010eas.2 + 7 993 c.928G>A c.(928-930)GGC>AGC p.G310S GTPBP3_uc010xpo.1_Missense_Mutation_p.G332S|GTPBP3_uc010ear.1_RNA|GTPBP3_uc002ngh.3_Missense_Mutation_p.G310S|GTPBP3_uc002ngg.3_Missense_Mutation_p.G342S|GTPBP3_uc002ngi.3_5'UTR NM_032620 NP_116009 Q969Y2 GTPB3_HUMAN GTP binding protein 3 (mitochondrial) isoform V 310 tRNA modification mitochondrion GTP binding|GTPase activity skin(1) 1 GTTGCGGGAGGGCGTGGGGCC 0.716 ZNF429 353088 broad.mit.edu 37 19 21719186 21719186 + Missense_Mutation SNP T T G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr19:21719186T>G uc002nqd.1 + 4 468 c.331T>G c.(331-333)TTA>GTA p.L111V ZNF429_uc010ecu.1_Intron NM_001001415 NP_001001415 Q86V71 ZN429_HUMAN zinc finger protein 429 111 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 ACATGAGAACTTACAATTAAG 0.358 PPP5C 5536 broad.mit.edu 37 19 46857240 46857240 + Silent SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr19:46857240C>T uc002pem.2 + 2 417 c.357C>T c.(355-357)TAC>TAT p.Y119Y PPP5C_uc010xya.1_Translation_Start_Site|PPP5C_uc002pen.2_Silent_p.Y119Y NM_006247 NP_006238 P53041 PPP5_HUMAN protein phosphatase 5, catalytic subunit 119 TPR 3. mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent Golgi apparatus|nucleus metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity lung(1)|pancreas(1) 2 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504) TGCGAGACTACGAGACGGTGA 0.647 SYNGR4 23546 broad.mit.edu 37 19 48878949 48878949 + Silent SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr19:48878949C>T uc002piz.2 + 4 656 c.411C>T c.(409-411)CTC>CTT p.L137L NM_012451 NP_036583 O95473 SNG4_HUMAN synaptogyrin 4 137 MARVEL. integral to membrane 0 all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) AAGAGTTCCTCCTGGGGAGCA 0.602 SYNGR4 23546 broad.mit.edu 37 19 48879451 48879451 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr19:48879451C>T uc002piz.2 + 5 826 c.581C>T c.(580-582)TCT>TTT p.S194F NM_012451 NP_036583 O95473 SNG4_HUMAN synaptogyrin 4 194 integral to membrane 0 all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) CCCTTGCCCTCTGCCAACAGC 0.617 PXDN 7837 broad.mit.edu 37 2 1648500 1648500 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr2:1648500G>A uc002qxa.2 - 18 3697 c.3633C>T c.(3631-3633)ATC>ATT p.I1211I NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1211 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GAAACAGGTCGATGTTGAGTG 0.498 APOB 338 broad.mit.edu 37 2 21226009 21226009 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr2:21226009G>A uc002red.2 - 29 12413 c.12285C>T c.(12283-12285)CTC>CTT p.L4095L NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 4095 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) CTCTCAGGGTGAGCCCTGTGT 0.478 C2orf44 80304 broad.mit.edu 37 2 24253804 24253804 + Nonstop_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr2:24253804C>G uc002rep.2 - 4 2296 c.2165G>C c.(2164-2166)TGA>TCA p.*722S C2orf44_uc010eya.2_3'UTR NM_025203 NP_079479 Q9H6R7 CB044_HUMAN hypothetical protein LOC80304 isoform 1 722 protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGCAGATATCAAGCCATGCC 0.493 PRPF40A 55660 broad.mit.edu 37 2 153573873 153573873 + Silent SNP G G T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr2:153573873G>T uc002tyi.2 - 1 49 c.36C>A c.(34-36)CTC>CTA p.L12L ARL6IP6_uc002tyn.2_5'Flank|ARL6IP6_uc002tym.2_5'Flank|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.3_Silent_p.L27L|PRPF40A_uc010zcd.1_Silent_p.L27L|PRPF40A_uc002tyj.2_5'UTR|PRPF40A_uc002tyl.1_Silent_p.L12L NM_017892 NP_060362 O75400 PR40A_HUMAN formin binding protein 3 12 mRNA processing|RNA splicing nuclear matrix|nuclear speck protein binding 0 CACTCACCATGAGGCCTCCAC 0.647 TTN 7273 broad.mit.edu 37 2 179449931 179449931 + Missense_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr2:179449931C>G uc010zfg.1 - 258 57060 c.56836G>C c.(56836-56838)GCA>CCA p.A18946P uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A12641P|TTN_uc010zfi.1_Missense_Mutation_p.A12574P|TTN_uc010zfj.1_Missense_Mutation_p.A12449P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19873 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) TTATGCACTGCCAGGTGGCTG 0.448 TTN 7273 broad.mit.edu 37 2 179485111 179485111 + Silent SNP T T C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr2:179485111T>C uc010zfg.1 - 197 38657 c.38433A>G c.(38431-38433)AAA>AAG p.K12811K TTN_uc010zfh.1_Silent_p.K6506K|TTN_uc010zfi.1_Silent_p.K6439K|TTN_uc010zfj.1_Silent_p.K6314K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 13738 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) CAGCAACAGATTTATCTTGTC 0.443 TTN 7273 broad.mit.edu 37 2 179595319 179595319 + Missense_Mutation SNP G G T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr2:179595319G>T uc010zfg.1 - 58 14433 c.14209C>A c.(14209-14211)CTG>ATG p.L4737M TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L1398M NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5664 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) GTACCTTCCAGCTGGCTGATT 0.428 TTN 7273 broad.mit.edu 37 2 179632580 179632580 + Missense_Mutation SNP T T G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr2:179632580T>G uc010zfg.1 - 40 9601 c.9377A>C c.(9376-9378)AAG>ACG p.K3126T TTN_uc010zfh.1_Missense_Mutation_p.K3080T|TTN_uc010zfi.1_Missense_Mutation_p.K3080T|TTN_uc010zfj.1_Missense_Mutation_p.K3080T|TTN_uc002unb.2_Missense_Mutation_p.K3126T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 3126 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) CACTGTGTACTTCCCAGCATC 0.448 USP37 57695 broad.mit.edu 37 2 219339499 219339499 + Missense_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr2:219339499C>G uc002vie.2 - 20 2606 c.2153G>C c.(2152-2154)AGA>ACA p.R718T USP37_uc010fvs.1_Missense_Mutation_p.R718T|USP37_uc010zkf.1_Missense_Mutation_p.R718T|USP37_uc002vif.2_Missense_Mutation_p.R718T|USP37_uc002vig.2_Missense_Mutation_p.R624T NM_020935 NP_065986 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 718 UIM 1. ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(3)|ovary(1)|prostate(1) 5 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) TGAAGCATCTCTCTTACTTAT 0.418 PAX3 5077 broad.mit.edu 37 2 223161818 223161818 + Missense_Mutation SNP A A G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr2:223161818A>G uc010fwo.2 - 2 566 c.200T>C c.(199-201)ATC>ACC p.I67T PAX3_uc002vmt.1_Missense_Mutation_p.I67T|PAX3_uc002vmy.1_Missense_Mutation_p.I67T|PAX3_uc002vmv.1_Missense_Mutation_p.I67T|PAX3_uc002vmw.1_Missense_Mutation_p.I67T|PAX3_uc002vmx.1_Missense_Mutation_p.I67T|PAX3_uc002vmz.1_Missense_Mutation_p.I67T|PAX3_uc002vna.1_Missense_Mutation_p.I67T|CCDC140_uc002vnb.1_5'Flank NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 67 Paired. Missing (in WS1). apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCAGGGCCGGATGCCGTGGTG 0.657 T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome CXCR7 57007 broad.mit.edu 37 2 237489897 237489897 + Silent SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr2:237489897C>G uc010fyq.2 + 3 1019 c.789C>G c.(787-789)GTC>GTG p.V263V CXCR7_uc002vwd.2_Silent_p.V263V NM_020311 NP_064707 P25106 CXCR7_HUMAN chemokine orphan receptor 1 263 Helical; Name=6; (Potential). interspecies interaction between organisms integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding large_intestine(1)|central_nervous_system(1)|skin(1) 3 Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223) Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118) TCTTCCTTGTCTGCTGGCTGC 0.602 PER2 8864 broad.mit.edu 37 2 239161846 239161846 + Missense_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr2:239161846C>G uc002vyc.2 - 19 3055 c.2818G>C c.(2818-2820)GAG>CAG p.E940Q PER2_uc010znv.1_Missense_Mutation_p.E940Q NM_022817 NP_073728 O15055 PER2_HUMAN period 2 940 Pro-rich. circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity upper_aerodigestive_tract(1)|breast(1) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) GAGGCCATCTCGGATGTGAGT 0.642 SGK2 10110 broad.mit.edu 37 20 42199271 42199271 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr20:42199271G>A uc002xkv.2 + 6 774 c.555G>A c.(553-555)CTG>CTA p.L185L SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Silent_p.L125L|SGK2_uc010ggm.2_Silent_p.L125L|SGK2_uc002xks.2_Silent_p.L124L|SGK2_uc002xku.2_Silent_p.L125L NM_016276 NP_057360 Q9HBY8 SGK2_HUMAN serum/glucocorticoid regulated kinase 2 isoform 185 Protein kinase. intracellular protein kinase cascade|response to oxidative stress ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 6 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TCTTCCACCTGCAGCGGGAGC 0.642 CSE1L 1434 broad.mit.edu 37 20 47712900 47712900 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr20:47712900G>A uc002xty.2 + 25 2975 c.2841G>A c.(2839-2841)GTG>GTA p.V947V CSE1L_uc010zyg.1_Silent_p.V730V|CSE1L_uc010ghx.2_Silent_p.V891V|CSE1L_uc010ghy.2_Silent_p.V568V|CSE1L_uc010zyh.1_3'UTR NM_001316 NP_001307 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like protein 947 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity large_intestine(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) CATCAATGGTGAGCACCAGCC 0.502 NCAM2 4685 broad.mit.edu 37 21 22696742 22696742 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr21:22696742C>T uc002yld.1 + 6 908 c.659C>T c.(658-660)GCC>GTC p.A220V NCAM2_uc011acb.1_Missense_Mutation_p.A78V|NCAM2_uc011acc.1_Missense_Mutation_p.A245V NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 220 Ig-like C2-type 3.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) TCTTTTAATGCCACAGCAGAG 0.483 TIAM1 7074 broad.mit.edu 37 21 32624209 32624209 + Silent SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr21:32624209C>T uc002yow.1 - 6 1732 c.1260G>A c.(1258-1260)CCG>CCA p.P420P TIAM1_uc011adk.1_Silent_p.P420P|TIAM1_uc011adl.1_Silent_p.P420P|TIAM1_uc002yox.1_Silent_p.P28P NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 420 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 CCGACTGGCCCGGAGAGCTCA 0.672 CCT8L2 150160 broad.mit.edu 37 22 17072615 17072615 + Missense_Mutation SNP G G T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr22:17072615G>T uc002zlp.1 - 1 1086 c.826C>A c.(826-828)CAA>AAA p.Q276K NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 276 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TCTAGTAATTGATCGCTTCCT 0.517 SEPT5 5413 broad.mit.edu 37 22 19709185 19709185 + Missense_Mutation SNP T T C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr22:19709185T>C uc002zpv.1 + 9 865 c.740T>C c.(739-741)ATA>ACA p.I247T SEPT5_uc002zpw.1_RNA|SEPT5_uc002zpx.1_RNA|SEPT5_uc002zpy.1_5'UTR|SEPT5_uc002zpz.1_5'Flank NM_002688 NP_002679 Q99719 SEPT5_HUMAN septin 5 247 cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting plasma membrane|septin complex|synaptic vesicle GTP binding|GTPase activity|protein binding|structural molecule activity lung(1) 1 Colorectal(54;0.0993) TTCGCCGTTATAGGCAGCAAC 0.627 ZCWPW2 152098 broad.mit.edu 37 3 28562499 28562499 + Missense_Mutation SNP A A C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr3:28562499A>C uc003ceh.2 + 9 969 c.801A>C c.(799-801)GAA>GAC p.E267D ZCWPW2_uc003cei.2_Missense_Mutation_p.E267D|ZCWPW2_uc010hfo.2_Missense_Mutation_p.E72D NM_001040432 NP_001035522 Q504Y3 ZCPW2_HUMAN zinc finger, CW type with PWWP domain 2 267 zinc ion binding ovary(2) 2 GTGAGACGGAAGTTTTACTAA 0.378 C3orf39 84892 broad.mit.edu 37 3 43121515 43121515 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr3:43121515C>T uc003cmq.1 - 2 1550 c.1409G>A c.(1408-1410)GGA>GAA p.G470E C3orf39_uc003cmr.1_Missense_Mutation_p.G470E NM_032806 NP_116195 Q8NAT1 AGO61_HUMAN glycosyltransferase precursor 470 extracellular region transferase activity, transferring glycosyl groups ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718) CTTCCGTGGTCCTGGCCGGCC 0.642 PARP3 10039 broad.mit.edu 37 3 51981840 51981840 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr3:51981840C>T uc003dby.2 + 10 1732 c.1361C>T c.(1360-1362)ACG>ATG p.T454M PARP3_uc003dbz.2_Missense_Mutation_p.T461M NM_005485 NP_005476 Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 454 PARP catalytic. DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CATATCAACACGGACAACCCC 0.587 VGLL3 389136 broad.mit.edu 37 3 86996204 86996204 + Silent SNP T T C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr3:86996204T>C uc003dqn.2 - 4 1315 c.951A>G c.(949-951)CAA>CAG p.Q317Q NM_016206 NP_057290 A8MV65 VGLL3_HUMAN colon carcinoma related protein 317 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) TACTCTTGTCTTGATGCTGTA 0.378 COL8A1 1295 broad.mit.edu 37 3 99514979 99514979 + Silent SNP A A G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr3:99514979A>G uc003dtg.1 + 5 2479 c.2234A>G c.(2233-2235)TAA>TGA p.*745* COL8A1_uc003dth.1_Silent_p.*745*|COL8A1_uc003dti.1_Silent_p.*746* NM_001850 NP_001841 P27658 CO8A1_HUMAN alpha 1 type VIII collagen precursor 745 angiogenesis|cell adhesion basement membrane|collagen type VIII 0 TATCCCATGTAAAAACAAAAA 0.373 GRAMD1C 54762 broad.mit.edu 37 3 113595064 113595064 + Missense_Mutation SNP G G T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr3:113595064G>T uc003eaq.3 + 5 492 c.416G>T c.(415-417)CGA>CTA p.R139L GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_Intron NM_017577 NP_060047 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 139 integral to membrane ovary(2)|skin(1) 3 AAAACTGCTCGACTCATCCCA 0.303 TF 7018 broad.mit.edu 37 3 133494371 133494371 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr3:133494371G>A uc003epu.1 + 20 3510 c.1782G>A c.(1780-1782)GCG>GCA p.A594A TF_uc011blt.1_Silent_p.A467A|TF_uc003epw.1_Intron|TF_uc003epv.1_Silent_p.A594A NM_001063 NP_001054 P02787 TRFE_HUMAN transferrin precursor 594 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding ovary(1)|skin(1) 2 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) AGGAGTATGCGAACTGCCACC 0.498 CEP63 80254 broad.mit.edu 37 3 134226057 134226057 + Missense_Mutation SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr3:134226057G>A uc003eqo.1 + 4 600 c.151G>A c.(151-153)GAA>AAA p.E51K CEP63_uc003eql.1_Missense_Mutation_p.E51K|CEP63_uc003eqm.2_Missense_Mutation_p.E51K|CEP63_uc003eqn.1_Missense_Mutation_p.E51K NM_025180 NP_079456 Q96MT8 CEP63_HUMAN centrosomal protein 63 isoform a 51 Potential. cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding ovary(1) 1 ACATGCTCTAGAAACTTGCTT 0.383 SGEF 26084 broad.mit.edu 37 3 153847444 153847444 + Missense_Mutation SNP A A C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr3:153847444A>C uc011bog.1 + 4 1416 c.1205A>C c.(1204-1206)AAG>ACG p.K402T SGEF_uc011boh.1_Missense_Mutation_p.K402T NM_015595 NP_056410 Q96DR7 ARHGQ_HUMAN Src homology 3 domain-containing guanine 402 regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) AAAGAACAGAAGTCAGATGAA 0.413 PLD1 5337 broad.mit.edu 37 3 171455827 171455827 + Silent SNP G G A rs145738077 byFrequency TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr3:171455827G>A uc003fhs.2 - 2 131 c.15C>T c.(13-15)AAC>AAT p.N5N PLD1_uc003fht.2_Silent_p.N5N NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 5 cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) CCCGTGGCTCGTTTTTCAGTG 0.413 WDFY3 23001 broad.mit.edu 37 4 85661406 85661406 + Missense_Mutation SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr4:85661406G>A uc003hpd.2 - 39 6806 c.6398C>T c.(6397-6399)CCT>CTT p.P2133L NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 2133 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) ATGGTTCCCAGGTCCCAGGAT 0.448 PCDH10 57575 broad.mit.edu 37 4 134071772 134071772 + Silent SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr4:134071772C>T uc003iha.2 + 1 1303 c.477C>T c.(475-477)TAC>TAT p.Y159Y uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.Y159Y NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 159 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) TGCGCGACTACGAGATCACCC 0.622 USP38 84640 broad.mit.edu 37 4 144106705 144106705 + Missense_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr4:144106705C>G uc003ijb.2 + 1 636 c.102C>G c.(100-102)GAC>GAG p.D34E USP38_uc003ija.3_Missense_Mutation_p.D34E|USP38_uc003ijc.2_RNA NM_032557 NP_115946 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 34 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_hematologic(180;0.158) ACTGGCTAGACGAGGCGCAGT 0.647 GZMK 3003 broad.mit.edu 37 5 54327247 54327247 + Missense_Mutation SNP A A C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr5:54327247A>C uc003jpl.1 + 4 463 c.419A>C c.(418-420)AAA>ACA p.K140T NM_002104 NP_002095 P49863 GRAK_HUMAN granzyme K precursor 140 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) ATAAGATCCAAAACCTCTCTT 0.423 APC 324 broad.mit.edu 37 5 112111436 112111436 + Splice_Site SNP T T G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr5:112111436T>G uc010jby.2 + 5 911 c.531_splice c.e5+2 p.N177_splice APC_uc011cvt.1_Splice_Site_p.N187_splice|APC_uc003kpz.3_Splice_Site_p.N177_splice|APC_uc003kpy.3_Splice_Site_p.N177_splice|APC_uc010jbz.2_Splice_Site NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) ACTGAAAATGTAAGTAACTTG 0.294 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) PCDHA12 56137 broad.mit.edu 37 5 140257073 140257073 + Silent SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr5:140257073C>T uc003lic.2 + 1 2143 c.2016C>T c.(2014-2016)AAC>AAT p.N672N PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.N672N NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 672 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTGGAGAACGGCCAGGCCC 0.667 G3BP1 10146 broad.mit.edu 37 5 151179475 151179475 + Missense_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr5:151179475C>G uc003lun.2 + 9 1040 c.869C>G c.(868-870)TCT>TGT p.S290C G3BP1_uc003lum.2_Missense_Mutation_p.S290C|G3BP1_uc011dcu.1_Missense_Mutation_p.S108C|G3BP1_uc010jhz.2_Missense_Mutation_p.S108C|G3BP1_uc003luq.2_Translation_Start_Site NM_005754 NP_005745 Q13283 G3BP1_HUMAN Ras-GTPase-activating protein SH3-domain-binding 290 Ras protein signal transduction|transport cytosol|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding skin(3)|ovary(1) 4 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) AAGCCTGAATCTCAGATTCCA 0.413 FAM50B 26240 broad.mit.edu 37 6 3850759 3850759 + Silent SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr6:3850759C>T uc003mvu.2 + 2 826 c.714C>T c.(712-714)ATC>ATT p.I238I NM_012135 NP_036267 Q9Y247 FA50B_HUMAN family with sequence similarity 50, member B 238 nucleus pancreas(1) 1 Ovarian(93;0.0925) all_hematologic(90;0.108) TCATGTTCATCAAGGAGGACC 0.627 F13A1 2162 broad.mit.edu 37 6 6318886 6318886 + Silent SNP A A C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr6:6318886A>C uc003mwv.2 - 2 135 c.12T>G c.(10-12)ACT>ACG p.T4T F13A1_uc011dib.1_Silent_p.T4T NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 4 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CGGTCCTGGAAGTTTCTGACA 0.453 HIST1H4E 8367 broad.mit.edu 37 6 26204976 26204976 + Missense_Mutation SNP T T C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr6:26204976T>C uc003ngy.2 + 1 104 c.104T>C c.(103-105)ATC>ACC p.I35T NM_003545 NP_003536 P62805 H4_HUMAN histone cluster 1, H4e 35 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 all_hematologic(11;0.196) AAGCCTGCCATCCGGCGCCTT 0.577 IMPG1 3617 broad.mit.edu 37 6 76751661 76751661 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr6:76751661C>T uc003pik.1 - 2 380 c.250G>A c.(250-252)GAA>AAA p.E84K NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 84 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TTCATGGATTCCTGTGGACAG 0.383 LAMA4 3910 broad.mit.edu 37 6 112454672 112454672 + Missense_Mutation SNP A A C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr6:112454672A>C uc003pvu.2 - 27 3884 c.3575T>G c.(3574-3576)CTT>CGT p.L1192R LAMA4_uc003pvv.2_Missense_Mutation_p.L1185R|LAMA4_uc003pvt.2_Missense_Mutation_p.L1185R NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 1192 Laminin G-like 2. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) ATCTAGGGGAAGGTGTGCTCT 0.448 TMEM200A 114801 broad.mit.edu 37 6 130762633 130762633 + Missense_Mutation SNP T T A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr6:130762633T>A uc003qca.2 + 3 1937 c.1066T>A c.(1066-1068)TCG>ACG p.S356T TMEM200A_uc010kfh.2_Missense_Mutation_p.S356T|TMEM200A_uc010kfi.2_Missense_Mutation_p.S356T|TMEM200A_uc003qcb.2_Missense_Mutation_p.S356T NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 356 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) GGAGTCGTTGTCGAGTCAGTA 0.527 SYNE1 23345 broad.mit.edu 37 6 152804233 152804233 + Missense_Mutation SNP A A C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr6:152804233A>C uc010kiw.2 - 14 1939 c.1337T>G c.(1336-1338)CTT>CGT p.L446R SYNE1_uc003qot.3_Missense_Mutation_p.L453R|SYNE1_uc003qou.3_Missense_Mutation_p.L446R|SYNE1_uc010kjb.1_Missense_Mutation_p.L429R|SYNE1_uc003qpa.1_Missense_Mutation_p.L446R|SYNE1_uc003qox.1_5'UTR NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 446 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATGTTGCTCAAGTTTCCGTTG 0.507 HNSCC(10;0.0054) THBS2 7058 broad.mit.edu 37 6 169623561 169623561 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr6:169623561C>T uc003qwt.2 - 19 3031 c.2783G>A c.(2782-2784)CGG>CAG p.R928Q NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 928 TSP type-3 8.|Cell attachment site (Potential). cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) AATATCACCCCGTCCATCACC 0.383 POM121L12 285877 broad.mit.edu 37 7 53104250 53104250 + Missense_Mutation SNP T T C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr7:53104250T>C uc003tpz.2 + 1 902 c.886T>C c.(886-888)TCC>CCC p.S296P NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 296 0 CCCCTTTGGCTCCTAAGAATC 0.602 MDH2 4191 broad.mit.edu 37 7 75687381 75687381 + Silent SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr7:75687381C>T uc003ueo.2 + 4 500 c.414C>T c.(412-414)TGC>TGT p.C138C MDH2_uc003uep.2_Silent_p.C31C|MDH2_uc011kgh.1_Silent_p.C138C NM_005918 NP_005909 P40926 MDHM_HUMAN mitochondrial malate dehydrogenase precursor 138 gluconeogenesis|malate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus|plasma membrane binding|L-malate dehydrogenase activity ovary(1)|central_nervous_system(1)|skin(1) 3 NADH(DB00157) CCATGATCTGCGTCATTGCCA 0.587 PCLO 27445 broad.mit.edu 37 7 82544694 82544694 + Missense_Mutation SNP A A C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr7:82544694A>C uc003uhx.2 - 7 12897 c.12608T>G c.(12607-12609)TTT>TGT p.F4203C PCLO_uc003uhv.2_Missense_Mutation_p.F4203C|PCLO_uc010lec.2_Missense_Mutation_p.F1168C NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4134 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AATAGGTGAAAATTTTGACAT 0.383 COL1A2 1278 broad.mit.edu 37 7 94055358 94055358 + Missense_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr7:94055358C>G uc003ung.1 + 45 3463 c.2992C>G c.(2992-2994)CCT>GCT p.P998A COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 998 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CCCAAGAGGTCCTAGTGTATG 0.418 HNSCC(75;0.22) LAMB4 22798 broad.mit.edu 37 7 107704215 107704215 + Missense_Mutation SNP T T C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr7:107704215T>C uc010ljo.1 - 22 3136 c.3052A>G c.(3052-3054)ACC>GCC p.T1018A LAMB4_uc003vey.2_Missense_Mutation_p.T1018A|LAMB4_uc010ljp.1_5'UTR NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 1018 Laminin EGF-like 10. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 CTTCTGCAGGTCTGATTGAGG 0.517 PDIA4 9601 broad.mit.edu 37 7 148702994 148702994 + Missense_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr7:148702994C>G uc003wff.2 - 8 1565 c.1283G>C c.(1282-1284)AGA>ACA p.R428T NM_004911 NP_004902 P13667 PDIA4_HUMAN protein disulfide isomerase A4 precursor 428 cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity lung(5)|ovary(1) 6 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) CTCACCAGCTCTGTAATCAAA 0.607 OREG0018420 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RP1L1 94137 broad.mit.edu 37 8 10465067 10465067 + Missense_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr8:10465067C>G uc003wtc.2 - 4 6770 c.6541G>C c.(6541-6543)GAG>CAG p.E2181Q NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 2181 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TCTGGGGCCTCTACACCTTCT 0.602 C8orf34 116328 broad.mit.edu 37 8 69552690 69552690 + Silent SNP T T G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr8:69552690T>G uc010lyz.2 + 8 976 c.927T>G c.(925-927)ACT>ACG p.T309T C8orf34_uc003xyb.2_Silent_p.T284T NM_052958 NP_443190 Q49A92 CH034_HUMAN hypothetical protein LOC116328 309 signal transduction cAMP-dependent protein kinase regulator activity large_intestine(1) 1 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) GCCGTCCTACTTACCCTGCTG 0.408 CNGB3 54714 broad.mit.edu 37 8 87588309 87588309 + Missense_Mutation SNP T T C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr8:87588309T>C uc003ydx.2 - 18 2199 c.2153A>G c.(2152-2154)GAT>GGT p.D718G CNGB3_uc010maj.2_Missense_Mutation_p.D575G NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 718 Cytoplasmic (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 tttttgtttatcttcattttc 0.179 SPAG1 6674 broad.mit.edu 37 8 101252666 101252666 + Silent SNP A A C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr8:101252666A>C uc003yjh.1 + 18 2402 c.2316A>C c.(2314-2316)GCA>GCC p.A772A SPAG1_uc003yji.1_Silent_p.A772A NM_172218 NP_757367 Q07617 SPAG1_HUMAN sperm associated antigen 1 772 single fertilization cytoplasm GTP binding|hydrolase activity ovary(2)|central_nervous_system(1) 3 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) GAAGACCTGCAGGGGAGGTCT 0.483 TM7SF4 81501 broad.mit.edu 37 8 105361304 105361304 + Missense_Mutation SNP T T C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr8:105361304T>C uc003ylx.1 + 2 573 c.524T>C c.(523-525)CTT>CCT p.L175P NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 175 osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) GCAGTCTCTCTTTTCAGTCCC 0.473 CSMD3 114788 broad.mit.edu 37 8 114111124 114111124 + Missense_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr8:114111124C>G uc003ynu.2 - 5 937 c.778G>C c.(778-780)GAG>CAG p.E260Q CSMD3_uc003ynt.2_Missense_Mutation_p.E220Q|CSMD3_uc011lhx.1_Missense_Mutation_p.E260Q|CSMD3_uc010mcx.1_Missense_Mutation_p.E260Q NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 260 Extracellular (Potential).|CUB 2. 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 TTATGGTACTCATTAGGAAAA 0.388 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) EPPK1 83481 broad.mit.edu 37 8 144941839 144941839 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr8:144941839G>A uc003zaa.1 - 1 5596 c.5583C>T c.(5581-5583)AAC>AAT p.N1861N NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 1861 cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGACCCTGGAGTTGAACAGGT 0.547 NFKBIL2 4796 broad.mit.edu 37 8 145666384 145666384 + Missense_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr8:145666384C>G uc011llg.1 - 8 991 c.976G>C c.(976-978)GAC>CAC p.D326H NM_013432 NP_038460 Q96HA7 TONSL_HUMAN NF-kappa-B inhibitor-like protein 2 326 TPR 7. cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity 0 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CTGGGAAAGTCTCCTGCCTTG 0.647 FLJ46321 389763 broad.mit.edu 37 9 84609013 84609013 + Missense_Mutation SNP T T G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr9:84609013T>G uc004amn.2 + 4 3675 c.3628T>G c.(3628-3630)TTG>GTG p.L1210V NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 1210 integral to membrane 0 CCAGTTAAAGTTGGTCCAGAG 0.403 FKTN 2218 broad.mit.edu 37 9 108358939 108358939 + Splice_Site SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr9:108358939G>A uc004bcr.2 + 4 381 c.165_splice c.e4+1 p.W55_splice FKTN_uc011lvx.1_Splice_Site_p.W55_splice|FKTN_uc004bcs.2_Splice_Site_p.W55_splice|FKTN_uc011lvy.1_Splice_Site_p.W55_splice|FKTN_uc010mtm.2_Splice_Site NM_001079802 NP_001073270 O75072 FKTN_HUMAN fukutin muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus transferase activity breast(2)|ovary(1) 3 CACACAGTGGGTATGTAGAAT 0.318 C9orf5 23731 broad.mit.edu 37 9 111870817 111870817 + Missense_Mutation SNP C C A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr9:111870817C>A uc004bdt.3 - 2 645 c.613G>T c.(613-615)GTT>TTT p.V205F C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Missense_Mutation_p.V205F NM_032012 NP_114401 Q9H330 CI005_HUMAN hypothetical protein LOC23731 205 Helical; (Potential). integral to membrane central_nervous_system(1) 1 Myeloproliferative disorder(63;0.204) OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823) TTGAATGAAACAGTCAACACA 0.353 ODF2 4957 broad.mit.edu 37 9 131262403 131262403 + Missense_Mutation SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr9:131262403G>A uc011mbd.1 + 21 2670 c.2359G>A c.(2359-2361)GAG>AAG p.E787K ODF2_uc004bvb.2_Missense_Mutation_p.E763K|ODF2_uc011mbe.1_Missense_Mutation_p.E782K|ODF2_uc004bvc.2_Missense_Mutation_p.E763K|ODF2_uc004bvd.3_Missense_Mutation_p.E787K|ODF2_uc004bvh.2_Missense_Mutation_p.E193K NM_002540 NP_002531 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 isoform 1 787 Potential. cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity ovary(1) 1 GGAGCAGTCCGAGAGCACCAA 0.468 ADAMTSL2 9719 broad.mit.edu 37 9 136405731 136405731 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr9:136405731C>T uc011mdl.1 + 6 981 c.424C>T c.(424-426)CAC>TAC p.H142Y ADAMTSL2_uc004cei.2_Missense_Mutation_p.H142Y NM_001145320 NP_001138792 Q86TH1 ATL2_HUMAN ADAMTS-like 2 precursor 142 negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06) TGACTATGTCCACATCTCCAG 0.582 NLGN4X 57502 broad.mit.edu 37 X 5821801 5821801 + Nonsense_Mutation SNP G G T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chrX:5821801G>T uc010ndh.2 - 5 1419 c.918C>A c.(916-918)TGC>TGA p.C306* NLGN4X_uc004crp.2_Nonsense_Mutation_p.C326*|NLGN4X_uc004crq.2_Nonsense_Mutation_p.C306*|NLGN4X_uc010ndi.2_Nonsense_Mutation_p.C343*|NLGN4X_uc004crr.2_Nonsense_Mutation_p.C306*|NLGN4X_uc010ndj.2_Nonsense_Mutation_p.C306* NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 306 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 CCAGCATGTTGCAGCCGACCT 0.577 FIGF 2277 broad.mit.edu 37 X 15365304 15365304 + Missense_Mutation SNP A A G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chrX:15365304A>G uc004cwt.1 - 6 1429 c.920T>C c.(919-921)TTT>TCT p.F307S NM_004469 NP_004460 O43915 VEGFD_HUMAN vascular endothelial growth factor D 307 4.|4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C. angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding ovary(1)|breast(1)|central_nervous_system(1) 3 Hepatocellular(33;0.183) GTCTGGGTGAAATAGCTTGTG 0.438 GPR64 10149 broad.mit.edu 37 X 19024132 19024132 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chrX:19024132G>A uc004cyx.2 - 22 1991 c.1827C>T c.(1825-1827)TTC>TTT p.F609F GPR64_uc004cyy.2_Silent_p.F606F|GPR64_uc004cyz.2_Silent_p.F595F|GPR64_uc004czb.2_Silent_p.F609F|GPR64_uc004czc.2_Silent_p.F593F|GPR64_uc004czd.2_Silent_p.F585F|GPR64_uc004cze.2_Silent_p.F579F|GPR64_uc004czf.2_Silent_p.F571F|GPR64_uc004cza.2_Silent_p.F587F|GPR64_uc004cyw.2_Silent_p.F593F|GPR64_uc010nfj.2_Silent_p.F490F NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 isoform 1 609 GPS.|Extracellular (Potential). neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity 0 Hepatocellular(33;0.183) GCAGAACGCCGAAGCTTGTTA 0.493 DMD 1756 broad.mit.edu 37 X 31496452 31496452 + Missense_Mutation SNP A A C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chrX:31496452A>C uc004dda.1 - 59 8952 c.8708T>G c.(8707-8709)CTT>CGT p.L2903R DMD_uc004dcq.1_Missense_Mutation_p.L174R|DMD_uc004dcr.1_Missense_Mutation_p.L443R|DMD_uc004dcs.1_Missense_Mutation_p.L443R|DMD_uc004dct.1_Missense_Mutation_p.L443R|DMD_uc004dcu.1_Missense_Mutation_p.L443R|DMD_uc004dcv.1_Missense_Mutation_p.L443R|DMD_uc004dcw.2_Missense_Mutation_p.L1559R|DMD_uc004dcx.2_Missense_Mutation_p.L1562R|DMD_uc004dcz.2_Missense_Mutation_p.L2780R|DMD_uc004dcy.1_Missense_Mutation_p.L2899R|DMD_uc004ddb.1_Missense_Mutation_p.L2895R NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2903 Spectrin 20. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTTTCGTAGAAGCCGAGTGAC 0.438 ELMO2 63916 broad.mit.edu 37 20 45061630 45061630 + Translation_Start_Site DEL T T - TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr20:45061630delT uc010zxs.1 - 1 75 c.-567delA c.(-569--565)AAATG>AATG uc002xry.2_Intron Q96JJ3 ELMO2_HUMAN SubName: Full=ELMO2 protein; SubName: Full=Engulfment and cell motility 2; apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding ovary(1) 1 Myeloproliferative disorder(115;0.0122) tacgtgtccatttaccatcaa 0.015 OBSCN 84033 broad.mit.edu 37 1 228526004 228526004 + Frame_Shift_Del DEL G G - TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr1:228526004delG uc009xez.1 + 68 17059 c.17015delG c.(17014-17016)TGGfs p.W5672fs OBSCN_uc001hsn.2_Frame_Shift_Del_p.W5672fs|OBSCN_uc001hsr.1_Frame_Shift_Del_p.W300fs NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 5672 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) TCACCTGAGTGGGGGGCCGCT 0.647 CEP290 80184 broad.mit.edu 37 12 88500843 88500843 + Frame_Shift_Del DEL G G - TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr12:88500843delG uc001tar.2 - 24 2860 c.2516delC c.(2515-2517)ACAfs p.T839fs CEP290_uc001taq.2_5'Flank|CEP290_uc001tat.2_Frame_Shift_Del_p.T632fs NM_025114 NP_079390 O15078 CE290_HUMAN centrosomal protein 290kDa 839 Potential. cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding ovary(5)|breast(1)|pancreas(1) 7 CTCTTTTATTGTTTTAGATTC 0.259 RB1 5925 broad.mit.edu 37 13 48937043 48937046 + Frame_Shift_Del DEL ACAA ACAA - TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr13:48937043_48937046delACAA uc001vcb.2 + 8 977_980 c.811_814delACAA c.(811-816)ACAAGAfs p.T271fs RB1_uc010acs.1_RNA|RB1_uc010act.1_Intron NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 271_272 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(5)|p.L267fs*3(1) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGAAAATGATACAAGAATTATTGA 0.338 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) DNAH3 55567 broad.mit.edu 37 16 20998758 20998759 + Frame_Shift_Ins INS - - T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr16:20998758_20998759insT uc010vbe.1 - 47 6894_6895 c.6894_6895insA c.(6892-6897)AAATGTfs p.K2298fs DNAH3_uc010vbd.1_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2298_2299 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) AGCCGGATACATTTTTCTACAT 0.366 LMTK3 114783 broad.mit.edu 37 19 49001788 49001788 + Frame_Shift_Del DEL C C - TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr19:49001788delC uc002pjk.2 - 12 2625 c.2625delG c.(2623-2625)GGGfs p.G875fs NM_001080434 NP_001073903 lemur tyrosine kinase 3 lung(5)|central_nervous_system(1) 6 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) TCTCCCGGGGCCCCGGGAGTG 0.716 SNRNP70 6625 broad.mit.edu 37 19 49589818 49589818 + Frame_Shift_Del DEL G G - TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr19:49589818delG uc002pmk.2 + 2 586 c.147delG c.(145-147)GAGfs p.E49fs SNRNP70_uc002pmh.1_RNA|SNRNP70_uc002pmi.1_Frame_Shift_Del_p.E49fs|SNRNP70_uc002pml.2_5'UTR|SNRNP70_uc002pmm.2_RNA NM_003089 NP_003080 P08621 RU17_HUMAN U1 small nuclear ribonucleoprotein 70 kDa 49 nuclear mRNA splicing, via spliceosome|regulation of RNA splicing nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding 0 GAGAGTTTGAGGTGAGTTCAc 0.264 ELMO2 63916 broad.mit.edu 37 20 45061630 45061630 + Translation_Start_Site DEL T T - TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr20:45061630delT uc010zxs.1 - 1 75 c.-567delA c.(-569--565)AAATG>AATG uc002xry.2_Intron Q96JJ3 ELMO2_HUMAN SubName: Full=ELMO2 protein; SubName: Full=Engulfment and cell motility 2; apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding ovary(1) 1 Myeloproliferative disorder(115;0.0122) tacgtgtccatttaccatcaa 0.015 BRWD1 54014 broad.mit.edu 37 21 40649222 40649223 + Frame_Shift_Ins INS - - A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr21:40649222_40649223insA uc002yxk.1 - 11 1197_1198 c.1058_1059insT c.(1057-1059)TTGfs p.L353fs BRWD1_uc002yxl.2_Frame_Shift_Ins_p.L353fs|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_5'UTR|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Frame_Shift_Ins_p.L73fs NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 353 WD 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) CTTCAAAACCCAAAAAATACAT 0.322 RBM45 129831 broad.mit.edu 37 2 178980994 178980994 + Frame_Shift_Del DEL C C - TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr2:178980993_178980993TC>T uc002ulv.3 + 1 397 c.305_305TC>T c.(304-306)ttcfs p.F102fs NM_152945 NP_694453 Q8IUH3 RBM45_HUMAN Homo sapiens RNA binding motif protein 45 (RBM45), mRNA. 102 RRM 1. cell differentiation|nervous system development cytoplasm|nucleus RNA binding|nucleotide binding p.V101I(1) endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) TCTTAGGTTTTCATTGCTCAG 0.318 DNAH3 55567 broad.mit.edu 37 16 20998759 20998760 + Frame_Shift_Ins INS - - T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr16:20998758_20998759A>AT uc010vbe.2 - 46 6894_6895 c.6894_6895T>AT c.(6892-6897)aaatgtfs p.K2298fs DNAH3_uc010vbd.2_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 2298 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AGCCGGATACATTTTTCTACAT 0.426 ZNF429 353088 broad.mit.edu 37 19 21719297 21719298 + Frame_Shift_Ins INS - - TA TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr19:21719296_21719297T>TTA uc002nqd.1 + 3 578_579 c.441_442T>TTA c.(439-444)tgtgatfs p.C147fs ZNF429_uc010ecu.2_Intron NM_001001415 NP_001001415 Q86V71 ZN429_HUMAN Homo sapiens zinc finger protein 429 (ZNF429), mRNA. 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 TGTATCACTGTGATATATATGT 0.332 BRWD1 54014 broad.mit.edu 37 21 40649223 40649224 + Frame_Shift_Ins INS - - A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 g.chr21:40649222_40649223C>CA uc002yxk.2 - 10 1353_1354 c.1058_1059G>TG c.(1057-1059)ttgfs p.L353fs BRWD1_uc021wjf.1_Frame_Shift_Ins_p.L353fs|BRWD1_uc010goe.1_Non-coding_Transcript|BRWD1_uc010gof.1_5'UTR|BRWD1_uc010gog.1_Non-coding_Transcript|BRWD1_uc010goh.1_Non-coding_Transcript|BRWD1_uc010goi.1_Frame_Shift_Ins_p.L73fs NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA. 353 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) CTTCAAAACCCAAAAAATACAT 0.322