Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut SPEN 23013 broad.mit.edu 37 1 16254617 16254617 + Missense_Mutation SNP C C G TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr1:16254617C>G uc001axk.1 + 11 2086 c.1882C>G c.(1882-1884)CAA>GAA p.Q628E SPEN_uc010obp.1_Missense_Mutation_p.Q587E NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 628 Arg-rich.|Tyr-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CGACTATAACCAAGATCGTAC 0.403 NA 32 56 0 0 0 0 COL11A1 1301 broad.mit.edu 37 1 103471421 103471421 + Silent SNP C C T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr1:103471421C>T uc001dul.2 - 18 2136 c.1818G>A c.(1816-1818)CCG>CCA p.P606P COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Silent_p.P618P|COL11A1_uc001dun.2_Silent_p.P567P|COL11A1_uc009weh.2_Silent_p.P490P NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 606 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTGGCAGACCCGGAAGTCCAT 0.303 NA 28 54 0 0 0 0 KCNA10 3744 broad.mit.edu 37 1 111060811 111060811 + Missense_Mutation SNP C C T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr1:111060811C>T uc001dzt.1 - 1 987 c.599G>A c.(598-600)CGT>CAT p.R200H NM_005549 NP_005540 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related 200 R -> H (in a colorectal cancer sample; somatic mutation). voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity p.R200H(1) ovary(3)|large_intestine(1) 4 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) CCAGAACTGACGGTGGATGTC 0.547 NA 27 45 0 0 0 0 KCNA2 3737 broad.mit.edu 37 1 111147063 111147063 + Silent SNP C C T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr1:111147063C>T uc001dzu.2 - 2 838 c.342G>A c.(340-342)CGG>CGA p.R114R KCNA2_uc009wfv.1_Silent_p.R114R|KCNA2_uc009wfw.2_Silent_p.R114R NM_004974 NP_004965 P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related 114 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(1) 1 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) GCTCATAAAACCGAATTTCTT 0.478 NA 14 34 0 0 0 0 RSBN1 54665 broad.mit.edu 37 1 114310877 114310877 + Missense_Mutation SNP A A G TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr1:114310877A>G uc001edq.2 - 5 1829 c.1793T>C c.(1792-1794)GTT>GCT p.V598A RSBN1_uc001edr.2_RNA NM_018364 NP_060834 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 598 nucleus ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CAAAACTCCAACAGCAGCCGT 0.438 NA 16 35 0 0 0 0 HIPK1 204851 broad.mit.edu 37 1 114506106 114506106 + Missense_Mutation SNP G G T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr1:114506106G>T uc001eem.2 + 10 2362 c.2201G>T c.(2200-2202)GGC>GTC p.G734V HIPK1_uc001eel.2_Missense_Mutation_p.G734V|HIPK1_uc001een.2_Missense_Mutation_p.G734V|HIPK1_uc001eeo.2_Missense_Mutation_p.G360V|HIPK1_uc001eep.2_Missense_Mutation_p.G340V|HIPK1_uc001eeq.2_Missense_Mutation_p.G27V NM_198268 NP_938009 Q86Z02 HIPK1_HUMAN homeodomain-interacting protein kinase 1 isoform 734 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(4) 4 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TGCGCAGCCGGCCGGCCGGCG 0.488 NA 22 42 1.11e-12 1.31e-12 1 0 ANKRD35 148741 broad.mit.edu 37 1 145562297 145562297 + Missense_Mutation SNP C C T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr1:145562297C>T uc001eob.1 + 10 2093 c.1985C>T c.(1984-1986)GCG>GTG p.A662V NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.A505V NM_144698 NP_653299 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 662 Potential. ovary(4)|skin(1) 5 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AAGCCAGAGGCGCAGGTCCAG 0.632 NA 19 41 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152285838 152285838 + Silent SNP C C T rs148161383 byFrequency TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr1:152285838C>T uc001ezu.1 - 3 1560 c.1524G>A c.(1522-1524)GCG>GCA p.A508A uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 508 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTCTTGGGACGCTGAATGCC 0.597 NA Ichthyosis 143 278 0 0 0 0 NTRK1 4914 broad.mit.edu 37 1 156846199 156846199 + Missense_Mutation SNP A A C TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr1:156846199A>C uc001fqh.1 + 14 1696 c.1640A>C c.(1639-1641)AAG>ACG p.K547T NTRK1_uc001fqf.1_Missense_Mutation_p.K511T|NTRK1_uc009wsi.1_Missense_Mutation_p.K246T|NTRK1_uc001fqi.1_Missense_Mutation_p.K541T|NTRK1_uc009wsk.1_Missense_Mutation_p.K544T NM_002529 NP_002520 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 547 Cytoplasmic (Potential).|Protein kinase. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(9)|ovary(6)|stomach(1)|central_nervous_system(1) 17 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CAGGCACTGAAGGAGGCGTCC 0.657 NA T TPM3|TPR|TFG papillary thyroid TSP Lung(10;0.080) 6 27 0 0 0 0 FASLG 356 broad.mit.edu 37 1 172634881 172634881 + Missense_Mutation SNP G G T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr1:172634881G>T uc001gis.2 + 4 728 c.571G>T c.(571-573)GTA>TTA p.V191L FASLG_uc001git.2_3'UTR NM_000639 NP_000630 P48023 TNFL6_HUMAN fas ligand 191 Extracellular (Potential). activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity lung(2)|breast(1) 3 GCTGTACTTTGTATATTCCAA 0.468 NA 25 61 1.43e-11 1.67e-11 1 0 RASAL2 9462 broad.mit.edu 37 1 178423671 178423671 + Missense_Mutation SNP C C G TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr1:178423671C>G uc001glr.2 + 10 1780 c.1655C>G c.(1654-1656)TCT>TGT p.S552C RASAL2_uc001glq.2_Missense_Mutation_p.S700C|RASAL2_uc009wxc.2_Missense_Mutation_p.S66C NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 552 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 TTGGAGATCTCTAATCCAGAC 0.423 NA 37 77 0 0 0 0 C1orf27 54953 broad.mit.edu 37 1 186367550 186367550 + Missense_Mutation SNP C C A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr1:186367550C>A uc001grw.2 + 10 1122 c.886C>A c.(886-888)CCC>ACC p.P296T C1orf27_uc010poq.1_Missense_Mutation_p.P273T|C1orf27_uc010por.1_Missense_Mutation_p.P264T|OCLM_uc001gry.2_5'Flank NM_017847 NP_060317 Q5SWX8 ODR4_HUMAN odorant response abnormal 4 isoform 1 296 integral to membrane oxidoreductase activity|zinc ion binding ovary(1) 1 CAGCAGTAAACCCAAAGTTAA 0.378 NA 28 30 7.42e-09 8.35e-09 1 0 KCNT2 343450 broad.mit.edu 37 1 196309633 196309633 + Nonsense_Mutation SNP G G A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr1:196309633G>A uc001gtd.1 - 16 1681 c.1621C>T c.(1621-1623)CGA>TGA p.R541* KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Nonsense_Mutation_p.R491*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.R541*|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Nonsense_Mutation_p.R541*|KCNT2_uc001gth.1_Nonsense_Mutation_p.R62* NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 541 Cytoplasmic (Potential).|RCK N-terminal. voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 ATAATGTATCGAGGACCTGGA 0.323 NA 14 34 0 0 0 0 OBSCN 84033 broad.mit.edu 37 1 228434319 228434319 + Missense_Mutation SNP C C A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr1:228434319C>A uc009xez.1 + 13 3892 c.3848C>A c.(3847-3849)GCC>GAC p.A1283D OBSCN_uc001hsn.2_Missense_Mutation_p.A1283D NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1283 Ig-like 13. 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) TGTGAGGTGGCCCAGGCCCAG 0.612 NA 33 45 2.85e-18 3.49e-18 1 0 C1orf198 84886 broad.mit.edu 37 1 231004121 231004121 + Missense_Mutation SNP G G T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr1:231004121G>T uc001hub.2 - 1 182 c.138C>A c.(136-138)GAC>GAA p.D46E C1orf198_uc001huc.1_Intron|C1orf198_uc001hud.1_Missense_Mutation_p.D8E NM_032800 NP_116189 Q9H425 CA198_HUMAN hypothetical protein LOC84886 isoform 1 46 0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) TCTTCTCCTTGTCCTGCATGA 0.612 NA 15 16 1.15e-07 1.27e-07 1 0 CTNNA3 29119 broad.mit.edu 37 10 68139106 68139106 + Missense_Mutation SNP G G T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr10:68139106G>T uc009xpn.1 - 12 1659 c.1536C>A c.(1534-1536)AGC>AGA p.S512R CTNNA3_uc001jmw.2_Missense_Mutation_p.S512R NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 512 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 CCAAGATATGGCTTTCTGTAA 0.378 NA 18 40 2.35e-11 2.74e-11 1 0 CTBP2 1488 broad.mit.edu 37 10 126682531 126682531 + Silent SNP C C A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr10:126682531C>A uc009yak.2 - 8 1091 c.804G>T c.(802-804)GTG>GTT p.V268V CTBP2_uc009yal.2_Silent_p.V268V|CTBP2_uc001lif.3_Silent_p.V268V|CTBP2_uc001lih.3_Silent_p.V268V|CTBP2_uc001lid.3_Silent_p.V336V|CTBP2_uc001lie.3_Silent_p.V808V NM_001329 NP_001320 P56545 CTBP2_HUMAN C-terminal binding protein 2 isoform 1 268 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding 0 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) GGGCTGCGTTCACAAGGAATG 0.557 NA 40 66 3.43e-17 4.16e-17 1 0 OSBPL5 114879 broad.mit.edu 37 11 3121473 3121473 + Silent SNP C C T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr11:3121473C>T uc001lxk.2 - 14 1694 c.1536G>A c.(1534-1536)TCG>TCA p.S512S OSBPL5_uc010qxq.1_Silent_p.S423S|OSBPL5_uc009ydw.2_Silent_p.S444S|OSBPL5_uc001lxl.2_Silent_p.S444S|OSBPL5_uc009ydx.2_Silent_p.S536S NM_020896 NP_065947 Q9H0X9 OSBL5_HUMAN oxysterol-binding protein-like protein 5 isoform 512 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) CCAGCAGCGCCGACAGCGAGT 0.607 NA 11 13 0 0 0 0 OR5D14 219436 broad.mit.edu 37 11 55563815 55563815 + Missense_Mutation SNP T T A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr11:55563815T>A uc010rim.1 + 1 784 c.784T>A c.(784-786)TGT>AGT p.C262S NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 262 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) TTTCCTTTACTGTGTACCCAA 0.488 NA 21 30 0 0 0 0 MARK2 2011 broad.mit.edu 37 11 63666242 63666242 + Silent SNP A A G TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr11:63666242A>G uc001nxw.2 + 6 990 c.411A>G c.(409-411)GTA>GTG p.V137V MARK2_uc001nxx.2_Silent_p.V137V|MARK2_uc001nxy.2_Silent_p.V137V|MARK2_uc001nxv.3_Silent_p.V137V|MARK2_uc001nxz.3_Silent_p.V104V|MARK2_uc009yoy.2_Silent_p.V104V NM_001039469 NP_001034558 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 137 Protein kinase. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 CAGGAGAGGTATTTGATTACC 0.552 NA 17 52 0 0 0 0 CPT1A 1374 broad.mit.edu 37 11 68552321 68552321 + Silent SNP G G A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr11:68552321G>A uc001oog.3 - 10 1295 c.1125C>T c.(1123-1125)CCC>CCT p.P375P CPT1A_uc001oof.3_Silent_p.P375P|CPT1A_uc009ysj.2_Intron NM_001876 NP_001867 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A liver isoform 375 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity skin(2) 2 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) TGGCCTCCCCGGGCTGAGGCT 0.642 NA 28 30 0 0 0 0 CAPN5 726 broad.mit.edu 37 11 76796018 76796018 + Missense_Mutation SNP A A C TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr11:76796018A>C uc001oxx.2 + 2 271 c.86A>C c.(85-87)GAC>GCC p.D29A CAPN5_uc009yup.2_Missense_Mutation_p.D29A|CAPN5_uc009yuq.2_Missense_Mutation_p.D65A|CAPN5_uc001oxy.2_Missense_Mutation_p.D69A NM_004055 NP_004046 O15484 CAN5_HUMAN calpain 5 29 Calpain catalytic. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity 0 CTCTTCGAGGACCCCCTCTTC 0.642 NA 5 28 0 0 0 0 GRIA4 2893 broad.mit.edu 37 11 105804580 105804580 + Nonsense_Mutation SNP G G T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr11:105804580G>T uc001pix.2 + 14 2625 c.2179G>T c.(2179-2181)GAG>TAG p.E727* GRIA4_uc001piw.2_Nonsense_Mutation_p.E727*|GRIA4_uc010rvm.1_RNA|GRIA4_uc009yxl.1_RNA NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 727 Extracellular (Potential). Glutamate (By similarity). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) CTTTCTCCTGGAGTCCACTAT 0.488 NA 20 31 4.63e-17 5.59e-17 1 0 ADAMTS8 11095 broad.mit.edu 37 11 130275888 130275888 + Silent SNP G G A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr11:130275888G>A uc001qgg.3 - 9 2593 c.2235C>T c.(2233-2235)AAC>AAT p.N745N ADAMTS8_uc001qgf.2_Silent_p.N226N NM_007037 NP_008968 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 745 Spacer. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) CCAGGTTGCCGTTGAGCAGGT 0.597 NA 17 70 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49435983 49435983 + Nonsense_Mutation SNP G G A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr12:49435983G>A uc001rta.3 - 28 5998 c.5998C>T c.(5998-6000)CAG>TAG p.Q2000* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2000 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 AGACTCCGCTGGTTATAGGAG 0.607 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 7 7 0 0 0 0 FMNL3 91010 broad.mit.edu 37 12 50044492 50044492 + Missense_Mutation SNP C C A rs149056505 by1000genomes TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr12:50044492C>A uc001ruv.1 - 17 2201 c.1967G>T c.(1966-1968)CGC>CTC p.R656L FMNL3_uc001ruw.1_Missense_Mutation_p.R605L|FMNL3_uc001rut.1_Missense_Mutation_p.R222L|FMNL3_uc001ruu.1_Missense_Mutation_p.R506L NM_175736 NP_783863 Q8IVF7 FMNL3_HUMAN formin-like 3 isoform 1 656 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding breast(2)|pancreas(2) 4 CTCAGCCGAGCGGCCAGCCTT 0.582 NA 23 32 4.72e-08 5.27e-08 1 0 DAZAP2 9802 broad.mit.edu 37 12 51636287 51636287 + Nonsense_Mutation SNP C C T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr12:51636287C>T uc010snd.1 + 4 659 c.475C>T c.(475-477)CAG>TAG p.Q159* DAZAP2_uc001ryb.2_3'UTR|DAZAP2_uc010snc.1_3'UTR|DAZAP2_uc010sne.1_3'UTR|DAZAP2_uc010snf.1_Intron NM_001136266 NP_001129738 Q15038 DAZP2_HUMAN DAZ associated protein 2 isoform c Error:Variant_position_missing_in_Q15038_after_alignment WW domain binding 0 CACATACCTTCAGCACTTCTC 0.483 NA 19 46 0 0 0 0 NR4A1 3164 broad.mit.edu 37 12 52451148 52451148 + Silent SNP C C A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr12:52451148C>A uc001rzs.2 + 7 1688 c.1374C>A c.(1372-1374)GGC>GGA p.G458G NR4A1_uc010sno.1_Silent_p.G471G|NR4A1_uc001rzt.2_Silent_p.G458G|NR4A1_uc009zmc.2_Missense_Mutation_p.A72E NM_002135 NP_002126 P22736 NR4A1_HUMAN nuclear receptor subfamily 4, group A, member 1 458 Ligand-binding (Potential). nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(357;0.0967) CTAAGCCAGGCGAGGGCAAGC 0.607 NA 17 33 3.41e-10 3.92e-10 1 0 PA2G4 5036 broad.mit.edu 37 12 56506656 56506656 + Missense_Mutation SNP A A G TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr12:56506656A>G uc001sjm.2 + 13 1588 c.1169A>G c.(1168-1170)AAT>AGT p.N390S PA2G4_uc009zol.2_Missense_Mutation_p.N372S|PA2G4_uc009zom.2_3'UTR NM_006191 NP_006182 Q9UQ80 PA2G4_HUMAN ErbB3-binding protein 1 390 Necessary for nucleolar localization. cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding 0 OV - Ovarian serous cystadenocarcinoma(18;0.0739) TTAGAAGAAAATGAAGCTGGG 0.517 NA 27 65 0 0 0 0 RAB21 23011 broad.mit.edu 37 12 72176380 72176380 + Nonsense_Mutation SNP T T G TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr12:72176380T>G uc001swt.2 + 6 729 c.477T>G c.(475-477)TAT>TAG p.Y159* NM_014999 NP_055814 Q9UL25 RAB21_HUMAN RAB21, member RAS oncogene family 159 protein transport|small GTPase mediated signal transduction cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane GDP binding|GTP binding|GTPase activity|protein binding 0 CAAAACATTATCATACTTCAG 0.303 NA 10 22 0 0 0 0 ACSS3 79611 broad.mit.edu 37 12 81545669 81545669 + Nonsense_Mutation SNP C C A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr12:81545669C>A uc001szl.1 + 6 1059 c.968C>A c.(967-969)TCA>TAA p.S323* ACSS3_uc001szm.1_Nonsense_Mutation_p.S322*|ACSS3_uc001szn.1_Nonsense_Mutation_p.S5* NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 323 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 CTACACTGGTCAATGTCTTCC 0.343 NA 19 45 5.26e-13 6.25e-13 1 0 CMKLR1 1240 broad.mit.edu 37 12 108686279 108686279 + Missense_Mutation SNP C C T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr12:108686279C>T uc009zuw.2 - 3 652 c.461G>A c.(460-462)CGC>CAC p.R154H CMKLR1_uc001tmw.2_Missense_Mutation_p.R154H|CMKLR1_uc001tmv.2_Missense_Mutation_p.R152H|CMKLR1_uc009zuv.2_Missense_Mutation_p.R154H NM_001142345 NP_001135817 Q99788 CML1_HUMAN chemokine-like receptor 1 isoform a 154 Cytoplasmic (Potential). chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity lung(3)|ovary(1)|pancreas(1) 5 GTAAGCCAGGCGAACGCTGCG 0.562 NA 10 38 0 0 0 0 TPTE2 93492 broad.mit.edu 37 13 20025355 20025355 + Missense_Mutation SNP C C T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr13:20025355C>T uc001umd.2 - 12 963 c.752G>A c.(751-753)CGG>CAG p.R251Q TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.R140Q|TPTE2_uc001ume.2_Missense_Mutation_p.R174Q|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN TPTE and PTEN homologous inositol lipid 251 Phosphatase tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ATCTAGAAACCGCACAACTTC 0.338 NA 20 41 0 0 0 0 PCDH9 5101 broad.mit.edu 37 13 67802486 67802486 + Silent SNP A A T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr13:67802486A>T uc001vik.2 - 2 779 c.87T>A c.(85-87)ACT>ACA p.T29T PCDH9_uc001vil.2_Silent_p.T29T|PCDH9_uc010thl.1_Silent_p.T29T|PCDH9_uc001vin.3_Silent_p.T29T NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 29 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) CCTCTCTAATAGTGTAAATAA 0.433 NA 27 42 0 0 0 0 TPP2 7174 broad.mit.edu 37 13 103271177 103271177 + Missense_Mutation SNP C C T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr13:103271177C>T uc001vpi.3 + 5 704 c.601C>T c.(601-603)CAT>TAT p.H201Y NM_003291 NP_003282 P29144 TPP2_HUMAN tripeptidyl peptidase II 201 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CTTGGTATGGCATGATGGCGA 0.368 NA 29 85 0 0 0 0 SEC23A 10484 broad.mit.edu 37 14 39509955 39509955 + Missense_Mutation SNP G G A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr14:39509955G>A uc001wup.1 - 18 2346 c.2123C>T c.(2122-2124)ACT>ATT p.T708I SEC23A_uc010tqa.1_Missense_Mutation_p.T594I|SEC23A_uc010tqb.1_Missense_Mutation_p.T679I NM_006364 NP_006355 Q15436 SC23A_HUMAN SEC23-related protein A 708 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) TCCATGTTCAGTGTCAATGTA 0.428 NA 83 84 0 0 0 0 SOS2 6655 broad.mit.edu 37 14 50597308 50597308 + Missense_Mutation SNP G G T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr14:50597308G>T uc001wxs.3 - 20 3346 c.3248C>A c.(3247-3249)CCA>CAA p.P1083Q SOS2_uc010ans.2_5'UTR|SOS2_uc010tql.1_Missense_Mutation_p.P1050Q NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 1083 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) TGGAGAGGTTGGTGCTGACAC 0.423 NA 65 83 1.32e-49 1.64e-49 1 0 ZC3H14 79882 broad.mit.edu 37 14 89063145 89063145 + Missense_Mutation SNP G G A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr14:89063145G>A uc001xww.2 + 10 1572 c.1347G>A c.(1345-1347)ATG>ATA p.M449I ZC3H14_uc010twd.1_Missense_Mutation_p.M449I|ZC3H14_uc010twe.1_Missense_Mutation_p.M449I|ZC3H14_uc001xwx.2_Intron|ZC3H14_uc010twf.1_Missense_Mutation_p.M294I|ZC3H14_uc001xwy.2_Missense_Mutation_p.M415I|ZC3H14_uc010twg.1_Intron|ZC3H14_uc001xxa.2_Intron|ZC3H14_uc001xxc.2_Intron|ZC3H14_uc001xxb.2_Missense_Mutation_p.M151I NM_024824 NP_079100 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 isoform 1 449 cytoplasm|cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding ovary(2)|skin(1) 3 CTCTGCAGATGAGTCAAGGTT 0.383 NA 23 56 0 0 0 0 TTC7B 145567 broad.mit.edu 37 14 91007854 91007854 + Missense_Mutation SNP G G T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr14:91007854G>T uc001xyp.2 - 20 2512 c.2390C>A c.(2389-2391)GCC>GAC p.A797D TTC7B_uc001xyo.2_Missense_Mutation_p.A241D|TTC7B_uc010ats.2_RNA NM_001010854 NP_001010854 Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 797 TPR 10. binding ovary(2) 2 Melanoma(154;0.222) GACCTCGTGGGCTGTCGAGTT 0.647 NA 12 42 1.58e-08 1.78e-08 1 0 PLA2G4E 123745 broad.mit.edu 37 15 42292147 42292147 + Missense_Mutation SNP G G A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr15:42292147G>A uc001zow.1 - 8 817 c.817C>T c.(817-819)CTT>TTT p.L273F PLA2G4E_uc010udc.1_5'Flank|PLA2G4E_uc001zov.1_5'Flank NM_001080490 NP_001073959 Q3MJ16 PA24E_HUMAN phospholipase A2, group 4E 295 phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity 0 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) CCATCGGAAAGGCAGTCGAGG 0.642 NA 4 6 0 0 0 0 STRA6 64220 broad.mit.edu 37 15 74490148 74490148 + Missense_Mutation SNP G G A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr15:74490148G>A uc002axk.2 - 3 307 c.125C>T c.(124-126)TCC>TTC p.S42F STRA6_uc002axi.2_5'Flank|STRA6_uc010ulh.1_Missense_Mutation_p.S80F|STRA6_uc002axj.2_Missense_Mutation_p.S81F|STRA6_uc010bji.2_Missense_Mutation_p.S42F|STRA6_uc002axl.2_5'UTR|STRA6_uc002axm.2_Missense_Mutation_p.S42F|STRA6_uc002axn.2_Missense_Mutation_p.S42F|STRA6_uc010uli.1_Missense_Mutation_p.S79F|STRA6_uc010bjj.1_RNA|STRA6_uc010bjk.2_Missense_Mutation_p.S42F NM_022369 NP_071764 Q9BX79 STRA6_HUMAN stimulated by retinoic acid gene 6 homolog 42 Extracellular (Potential). adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity central_nervous_system(1) 1 GGTGTGGCAGGAGGGCACTTC 0.622 NA 3 25 0 0 0 0 CREBBP 1387 broad.mit.edu 37 16 3788645 3788646 + Missense_Mutation DNP TA TA AC TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr16:3788645_3788646TA>AC uc002cvv.2 - 26 4512_4513 c.4308_4309TA>GT c.(4306-4311)AGTATT>AGGTTT p.1436_1437SI>RF CREBBP_uc002cvw.2_Missense_Mutation_p.1398_1399SI>RF NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1436_1437 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) AAGAAATGAATACTATCCAGAT 0.416 NA T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 3 19 0 0 0 0 ERCC4 2072 broad.mit.edu 37 16 14029437 14029437 + Missense_Mutation SNP C C T rs139197943 TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr16:14029437C>T uc002dce.2 + 8 1657 c.1648C>T c.(1648-1650)CCC>TCC p.P550S ERCC4_uc010uyz.1_Missense_Mutation_p.P100S NM_005236 NP_005227 Q92889 XPF_HUMAN excision repair cross-complementing rodent 550 double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity lung(4)|ovary(3)|skin(2)|pancreas(1) 10 CCTGAAAGAACCCCTCACTAT 0.463 NA Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 22 53 0 0 0 0 ACSM2B 348158 broad.mit.edu 37 16 20570579 20570579 + Missense_Mutation SNP A A G TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr16:20570579A>G uc002dhj.3 - 4 578 c.368T>C c.(367-369)ATC>ACC p.I123T ACSM2B_uc002dhk.3_Missense_Mutation_p.I123T|ACSM2B_uc010bwf.1_Missense_Mutation_p.I123T NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 123 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 GCAGCCCAGGATCACCAGCCA 0.577 NA 8 17 0 0 0 0 CLN3 1201 broad.mit.edu 37 16 28497943 28497943 + Silent SNP G G A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr16:28497943G>A uc002dpo.2 - 7 812 c.489C>T c.(487-489)GGC>GGT p.G163G uc010vct.1_Intron|CLN3_uc002dpl.2_Silent_p.G85G|CLN3_uc010vcu.1_Silent_p.G63G|CLN3_uc002dpn.2_Intron|CLN3_uc002dpm.2_Silent_p.G109G|CLN3_uc010vcv.1_Silent_p.G139G|CLN3_uc010byd.2_Silent_p.G163G|CLN3_uc002dpp.2_Silent_p.G163G|CLN3_uc002dpt.1_Silent_p.G63G|CLN3_uc002dpq.1_Silent_p.G163G|CLN3_uc010bye.1_Silent_p.G163G|CLN3_uc002dpr.1_Intron|CLN3_uc010byf.1_Intron|CLN3_uc002dps.1_Intron|CLN3_uc002dpu.1_Silent_p.G109G|CLN3_uc002dpw.1_Intron|CLN3_uc010vcw.1_Silent_p.G109G|CLN3_uc002dqa.2_Silent_p.G214G|CLN3_uc010vcx.1_Silent_p.G63G|CLN3_uc002dpx.1_Intron|CLN3_uc002dpy.1_Intron|CLN3_uc002dpz.1_RNA NM_000086 NP_000077 Q13286 CLN3_HUMAN ceroid-lipofuscinosis, neuronal 3 163 amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding 0 CCTCCCCAAGGCCTGATGAGA 0.607 NA 3 9 0 0 0 0 CENPBD1 92806 broad.mit.edu 37 16 90038291 90038291 + Missense_Mutation SNP T T G TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr16:90038291T>G uc002fpr.2 - 1 652 c.40A>C c.(40-42)AGT>CGT p.S14R AFG3L1_uc002fps.1_5'Flank|AFG3L1_uc002fpt.1_5'Flank|AFG3L1_uc002fpu.1_5'Flank|AFG3L1_uc002fpv.1_5'Flank|AFG3L1_uc002fpw.1_5'Flank|AFG3L1_uc002fpx.1_5'Flank NM_145039 NP_659476 B2RD01 CENP1_HUMAN CENPB DNA-binding domains containing 1 14 HTH psq-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 CTTTTGGCACTAGGGATGACA 0.502 NA 9 23 0 0 0 0 ACADVL 37 broad.mit.edu 37 17 7124963 7124963 + Missense_Mutation SNP A A G TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr17:7124963A>G uc002gev.2 + 7 735 c.584A>G c.(583-585)AAG>AGG p.K195R DLG4_uc002get.3_5'Flank|DLG4_uc010vto.1_5'Flank|ACADVL_uc010vtp.1_Missense_Mutation_p.K205R|ACADVL_uc010vtq.1_Missense_Mutation_p.K241R|ACADVL_uc002gew.2_Missense_Mutation_p.K173R|ACADVL_uc002gex.2_Missense_Mutation_p.K119R NM_000018 NP_000009 P49748 ACADV_HUMAN acyl-Coenzyme A dehydrogenase, very long chain 195 Catalytic. energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial inner membrane|mitochondrial nucleoid long-chain-acyl-CoA dehydrogenase activity ovary(3) 3 TTTGGCACAAAGGCCCAGAAA 0.577 NA 27 57 0 0 0 0 RAB5C 5878 broad.mit.edu 37 17 40282496 40282496 + Nonsense_Mutation SNP G G A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr17:40282496G>A uc002hyz.2 - 3 342 c.25C>T c.(25-27)CGA>TGA p.R9* RAB5C_uc002hza.2_Nonsense_Mutation_p.R9*|RAB5C_uc010cxx.2_Nonsense_Mutation_p.R42*|RAB5C_uc010cxy.2_Intron NM_201434 NP_958842 P51148 RAB5C_HUMAN RAB5C, member RAS oncogene family isoform a 9 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|plasma membrane GTP binding|GTPase activity|protein binding large_intestine(1)|skin(1) 2 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) CCATTGGGTCGTGCTGCGCCT 0.602 NA 11 19 0 0 0 0 MGAT5B 146664 broad.mit.edu 37 17 74944756 74944756 + Missense_Mutation SNP A A T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr17:74944756A>T uc002jti.2 + 16 2345 c.2242A>T c.(2242-2244)ATG>TTG p.M748L MGAT5B_uc002jth.2_Missense_Mutation_p.M737L|MGAT5B_uc002jtj.2_Missense_Mutation_p.M144L NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN N-acetylglucosaminyltranferase VB isoform 2 739 Lumenal (Potential). Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(2)|skin(1) 3 CGAGTCGGAGATGAACCACCT 0.652 NA 4 9 0 0 0 0 CDH2 1000 broad.mit.edu 37 18 25593761 25593761 + Silent SNP G G C TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr18:25593761G>C uc002kwg.2 - 3 744 c.285C>G c.(283-285)CTC>CTG p.L95L CDH2_uc010xbn.1_Silent_p.L64L NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 95 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 GCTCAGAAGAGAGTGGAAAGC 0.448 NA 24 21 0 0 0 0 CCDC159 126075 broad.mit.edu 37 19 11464486 11464488 + Missense_Mutation TNP GCA GCA TAT TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr19:11464486_11464488GCA>TAT uc010xlw.1 + 10 1036_1038 c.957_959GCA>TAT c.(955-960)CTGCAG>CTTATG p.Q320M CCDC159_uc010xlt.1_Missense_Mutation_p.Q237M|LPPR2_uc002mre.1_5'Flank|LPPR2_uc002mrf.1_5'Flank NM_001080503 NP_001073972 P0C7I6 CC159_HUMAN coiled-coil domain-containing-like 352 ovary(1) 1 TGCACGTGCTGCAGAACTCCATA 0.601 NA 4 7 0 0 0 0 ZNF333 84449 broad.mit.edu 37 19 14805946 14805946 + Splice_Site SNP G G A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr19:14805946G>A uc002mzn.2 + 3 261 c.127_splice c.e3+1 p.G43_splice ZNF333_uc010dzq.2_Splice_Site_p.G43_splice|ZNF333_uc002mzk.3_Splice_Site|ZNF333_uc002mzl.3_Splice_Site_p.G43_splice|ZNF333_uc002mzm.2_Splice_Site_p.G43_splice|ZNF333_uc010dzr.1_Splice_Site NM_032433 NP_115809 Q96JL9 ZN333_HUMAN zinc finger protein 333 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 GCCTCCAGGGGTAAGGCTGGC 0.582 NA 13 26 0 0 0 0 JAK3 3718 broad.mit.edu 37 19 17941381 17941381 + Silent SNP G G A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr19:17941381G>A uc002nhn.3 - 22 3127 c.3027C>T c.(3025-3027)GAC>GAT p.D1009D JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Silent_p.D1009D NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 1009 Protein kinase 2. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 56 AGCTCCAGACGTCTGACTGGC 0.597 2 Mis acute megakaryocytic leukemia| 18 24 0 0 0 0 ZNF546 339327 broad.mit.edu 37 19 40520277 40520277 + Missense_Mutation SNP G G A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr19:40520277G>A uc002oms.2 + 7 1356 c.1100G>A c.(1099-1101)AGG>AAG p.R367K ZNF546_uc002omt.2_Missense_Mutation_p.R341K NM_178544 NP_848639 Q86UE3 ZN546_HUMAN zinc finger protein 546 367 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) AAGACCTTTAGGGTACAACGA 0.388 NA 18 35 0 0 0 0 PSG8 440533 broad.mit.edu 37 19 43268311 43268311 + Missense_Mutation SNP T T C TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr19:43268311T>C uc002ouo.2 - 2 285 c.187A>G c.(187-189)ACT>GCT p.T63A PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_Intron|PSG8_uc002ouh.2_Missense_Mutation_p.T63A|PSG8_uc010ein.2_Intron|PSG8_uc002ouj.3_5'UTR|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Missense_Mutation_p.T63A|PSG8_uc002oum.3_Missense_Mutation_p.T63A|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.T63A NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform 63 Ig-like V-type. extracellular region 0 Prostate(69;0.00899) ATGTAGCCAGTAAGATTCTGG 0.458 NA 90 197 0 0 0 0 AP2A1 160 broad.mit.edu 37 19 50302996 50302996 + Silent SNP G G A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr19:50302996G>A uc002ppn.2 + 10 1456 c.1245G>A c.(1243-1245)ACG>ACA p.T415T AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Silent_p.T415T|AP2A1_uc002ppp.1_5'Flank NM_014203 NP_055018 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 415 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity ovary(2) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) ACCTGGAGACGGCAGACTACG 0.438 NA 9 18 0 0 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51914599 51914599 + Silent SNP T T C TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr19:51914599T>C uc002pwo.2 - 11 2464 c.1848A>G c.(1846-1848)ACA>ACG p.T616T SIGLEC10_uc002pwp.2_Silent_p.T558T|SIGLEC10_uc002pwq.2_Silent_p.T463T|SIGLEC10_uc002pwr.2_Silent_p.T521T|SIGLEC10_uc010ycy.1_Silent_p.T431T|SIGLEC10_uc010ycz.1_Silent_p.T473T|SIGLEC10_uc010eow.2_Silent_p.T333T NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 616 Cytoplasmic (Potential). cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GACTGTTTGGTGTGGCTTTCT 0.398 NA 27 52 0 0 0 0 KIR3DL3 115653 broad.mit.edu 37 19 55239225 55239225 + Silent SNP T T C TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr19:55239225T>C uc002qgu.1 + 4 522 c.504T>C c.(502-504)GTT>GTC p.V168V KIR2DL3_uc002qgv.2_Intron NM_153443 NP_703144 Q8N743 KI3L3_HUMAN killer cell immunoglobulin-like receptor, three 168 Ig-like C2-type 2.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(193;0.0192) TGCGCCTCGTTGGACAGCTCC 0.557 NA 4 71 0 0 0 0 ZNF671 79891 broad.mit.edu 37 19 58232346 58232346 + Missense_Mutation SNP G G T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr19:58232346G>T uc002qpz.3 - 4 1207 c.1108C>A c.(1108-1110)CAG>AAG p.Q370K ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Missense_Mutation_p.Q293K|ZNF671_uc010yhf.1_Missense_Mutation_p.Q272K NM_024833 NP_079109 Q8TAW3 ZN671_HUMAN zinc finger protein 671 370 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TTGCCACACTGATAGAGTCTT 0.473 NA 18 34 5.01e-05 5.43e-05 1 0 CCDC85A 114800 broad.mit.edu 37 2 56420052 56420052 + Silent SNP G G A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr2:56420052G>A uc002rzn.2 + 2 1219 c.717G>A c.(715-717)AAG>AAA p.K239K NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 239 His-rich. breast(3)|ovary(2) 5 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) ACCTGCAGAAGCCCCGGAGCG 0.672 NA 16 18 0 0 0 0 ANKRD36 375248 broad.mit.edu 37 2 97784187 97784187 + Missense_Mutation SNP A A G TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr2:97784187A>G uc010yva.1 + 3 663 c.419A>G c.(418-420)TAT>TGT p.Y140C ANKRD36_uc002sxn.2_Missense_Mutation_p.Y140C|ANKRD36_uc010yuz.1_RNA|ANKRD36_uc010fic.2_5'UTR|ANKRD36_uc002sxo.2_Missense_Mutation_p.Y140C|ANKRD36_uc002sxp.3_RNA NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 140 ANK 4. 0 TACGCTGTGTATAATGAAGAT 0.398 NA 21 11 0 0 0 0 SCN9A 6335 broad.mit.edu 37 2 167055277 167055277 + Missense_Mutation SNP A A G TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr2:167055277A>G uc010fpl.2 - 27 6180 c.5839T>C c.(5839-5841)TAT>CAT p.Y1947H uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1958 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) ACACTATCATATGAAGGTGGA 0.358 NA 3 17 0 0 0 0 FARSB 10056 broad.mit.edu 37 2 223497951 223497951 + Missense_Mutation SNP C C A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr2:223497951C>A uc002vne.1 - 7 717 c.682G>T c.(682-684)GGT>TGT p.G228C FARSB_uc010zlq.1_Missense_Mutation_p.G248C|FARSB_uc002vnf.1_Missense_Mutation_p.G129C NM_005687 NP_005678 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 228 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding ovary(1) 1 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) AGGACGACACCATTGCTATCA 0.333 NA 32 83 9.63e-15 1.15e-14 1 0 ARMC9 80210 broad.mit.edu 37 2 232209757 232209757 + Missense_Mutation SNP T T A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr2:232209757T>A uc002vrq.3 + 21 2061 c.1949T>A c.(1948-1950)CTG>CAG p.L650Q ARMC9_uc002vrp.3_Missense_Mutation_p.L650Q|ARMC9_uc002vrr.1_RNA NM_025139 NP_079415 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 650 binding ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) GATGAGCCCCTGCAAAGGCCC 0.547 NA 33 52 0 0 0 0 CSNK2A1 1457 broad.mit.edu 37 20 468128 468128 + Nonsense_Mutation SNP G G A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr20:468128G>A uc002wdw.1 - 12 1309 c.916C>T c.(916-918)CGA>TGA p.R306* CSNK2A1_uc002wdx.1_Nonsense_Mutation_p.R306*|CSNK2A1_uc002wdy.1_Nonsense_Mutation_p.R170* NM_177559 NP_808227 P68400 CSK21_HUMAN casein kinase II alpha 1 subunit isoform a 306 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity ovary(1) 1 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) TGGTCATATCGCAGCAGTTTG 0.527 NA 39 68 0 0 0 0 ISM1 140862 broad.mit.edu 37 20 13279750 13279750 + Missense_Mutation SNP C C T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr20:13279750C>T uc010gce.1 + 6 1045 c.1039C>T c.(1039-1041)CGC>TGC p.R347C TASP1_uc010zri.1_Intron NM_080826 NP_543016 B1AKI9 ISM1_HUMAN isthmin 1 homolog precursor 347 AMOP. extracellular region 0 CAAGGACTTCCGCTGGAAGGA 0.627 NA 4 26 0 0 0 0 VSX1 30813 broad.mit.edu 37 20 25057052 25057052 + Missense_Mutation SNP C C A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr20:25057052C>A uc002wuf.2 - 5 978 c.943G>T c.(943-945)GTG>TTG p.V315L VSX1_uc002wue.2_Intron|VSX1_uc010gdd.1_Intron|VSX1_uc010gde.1_Intron|VSX1_uc010gdf.1_Intron NM_014588 NP_055403 Q9NZR4 VSX1_HUMAN visual system homeobox 1 isoform a 315 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TCAGGGCTCACTTTATCTGAG 0.547 NA 37 53 5.73e-09 6.52e-09 1 0 PHF20 51230 broad.mit.edu 37 20 34389470 34389470 + Missense_Mutation SNP G G T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr20:34389470G>T uc002xek.1 + 2 137 c.26G>T c.(25-27)CGA>CTA p.R9L PHF20_uc002xei.1_Missense_Mutation_p.R9L|PHF20_uc010gfo.1_Missense_Mutation_p.R9L|PHF20_uc002xej.1_5'UTR|PHF20_uc002xeh.2_RNA NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN PHD finger protein 20 9 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding ovary(1) 1 Breast(12;0.00631)|all_lung(11;0.0145) CCTAACAGACGAGGAATCAGC 0.408 NA 15 37 1.57e-10 1.82e-10 1 0 PTPRT 11122 broad.mit.edu 37 20 40730876 40730876 + Missense_Mutation SNP C C A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr20:40730876C>A uc002xkg.2 - 26 3786 c.3602G>T c.(3601-3603)CGG>CTG p.R1201L PTPRT_uc010ggj.2_Missense_Mutation_p.R1220L|PTPRT_uc010ggi.2_Missense_Mutation_p.R404L NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1201 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) ATCATGGTTCCGGGGCAGGAG 0.557 NA 20 29 2.46e-09 2.81e-09 1 0 SFRS6 6431 broad.mit.edu 37 20 42088474 42088474 + Missense_Mutation SNP G G C TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr20:42088474G>C uc010zwg.1 + 3 490 c.320G>C c.(319-321)CGT>CCT p.R107P SFRS6_uc002xki.2_5'UTR|SFRS6_uc002xkk.2_Missense_Mutation_p.R107P NM_006275 NP_006266 Q13247 SRSF6_HUMAN arginine/serine-rich splicing factor 6 107 mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CCACCTGTTCGTACAGAATAC 0.393 NA 38 58 0 0 0 0 DGCR14 8220 broad.mit.edu 37 22 19130247 19130247 + Missense_Mutation SNP G G A rs111488352 byFrequency TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr22:19130247G>A uc002zou.2 - 2 333 c.296C>T c.(295-297)CCG>CTG p.P99L DGCR14_uc002zot.2_Missense_Mutation_p.P20L|DGCR14_uc002zov.2_RNA NM_022719 NP_073210 Q96DF8 DGC14_HUMAN DiGeorge syndrome critical region protein 14 99 nervous system development catalytic step 2 spliceosome ovary(1) 1 Colorectal(54;0.0993) ACAGGGTGGCGGGGGCTCCCG 0.582 NA 5 112 0 0 0 0 MN1 4330 broad.mit.edu 37 22 28193502 28193502 + Missense_Mutation SNP C C G TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr22:28193502C>G uc003adj.2 - 1 3985 c.3030G>C c.(3028-3030)TGG>TGC p.W1010C NM_002430 NP_002421 Q10571 MN1_HUMAN meningioma 1 1010 binding central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 10 CCCCCTTCCCCCAGGATGGCG 0.692 NA T ETV6 AML|meningioma 21 42 0 0 0 0 OSBP2 23762 broad.mit.edu 37 22 31286872 31286872 + Missense_Mutation SNP G G A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr22:31286872G>A uc003aiy.1 + 8 1885 c.1781G>A c.(1780-1782)CGC>CAC p.R594H OSBP2_uc011ala.1_Missense_Mutation_p.R428H|OSBP2_uc010gwc.1_Missense_Mutation_p.R421H|OSBP2_uc011alb.1_Missense_Mutation_p.R545H|OSBP2_uc003aiz.1_Missense_Mutation_p.R593H|OSBP2_uc003aja.1_Missense_Mutation_p.R227H|OSBP2_uc011alc.1_Missense_Mutation_p.R336H|OSBP2_uc003ajb.2_Missense_Mutation_p.R139H|OSBP2_uc011ald.1_Missense_Mutation_p.R138H|OSBP2_uc010gwd.1_Missense_Mutation_p.R139H NM_030758 NP_110385 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 isoform a 594 lipid transport membrane lipid binding breast(1)|skin(1) 2 ACAGTGCACCGCATCGCCAAG 0.642 NA OREG0026467 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 36 0 0 0 0 CSF2RB 1439 broad.mit.edu 37 22 37322077 37322077 + Nonsense_Mutation SNP G G A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr22:37322077G>A uc003aqa.3 + 4 466 c.249G>A c.(247-249)TGG>TGA p.W83* CSF2RB_uc003aqc.3_Nonsense_Mutation_p.W83* NM_000395 NP_000386 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta 83 Extracellular (Potential). respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity skin(2)|pancreas(1) 3 Sargramostim(DB00020) ACATGCCCTGGTCAGCCTGCC 0.547 NA 11 36 0 0 0 0 CYTH4 27128 broad.mit.edu 37 22 37695300 37695300 + Silent SNP C C T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr22:37695300C>T uc003arf.2 + 6 503 c.387C>T c.(385-387)TTC>TTT p.F129F CYTH4_uc003are.2_Silent_p.F129F|CYTH4_uc011amw.1_Silent_p.F72F|CYTH4_uc010gxe.2_Intron NM_013385 NP_037517 Q9UIA0 CYH4_HUMAN cytohesin 4 129 SEC7. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 TCCAGGCCTTCGTGGACTGCC 0.657 NA 10 22 0 0 0 0 PPPDE2 27351 broad.mit.edu 37 22 42000099 42000099 + Missense_Mutation SNP G G C TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr22:42000099G>C uc003ban.1 - 4 312 c.239C>G c.(238-240)ACA>AGA p.T80R PPPDE2_uc011apb.1_RNA NM_015704 NP_056519 Q6ICB0 PPDE2_HUMAN PPPDE peptidase domain containing 2 80 PPPDE peptidase. 0 GATTTCTTCTGTGACTTCTGT 0.527 NA 24 79 0 0 0 0 PLXNB1 5364 broad.mit.edu 37 3 48451945 48451945 + Silent SNP C C A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr3:48451945C>A uc003csw.2 - 30 5709 c.5439G>T c.(5437-5439)GGG>GGT p.G1813G PLXNB1_uc003cst.2_Silent_p.G263G|PLXNB1_uc003csu.2_Silent_p.G1630G|PLXNB1_uc003csx.2_Silent_p.G1813G NM_002673 NP_002664 O43157 PLXB1_HUMAN plexin B1 precursor 1813 Cytoplasmic (Potential). axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GAATGAGGTGCCCGGCCACCC 0.597 NA 18 21 4.97e-08 5.51e-08 1 0 SHISA5 51246 broad.mit.edu 37 3 48510918 48510918 + Missense_Mutation SNP G G T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr3:48510918G>T uc003ctp.1 - 5 619 c.485C>A c.(484-486)CCT>CAT p.P162H SHISA5_uc003ctn.1_Silent_p.A30A|SHISA5_uc003ctm.1_Missense_Mutation_p.P59H|SHISA5_uc011bbk.1_Silent_p.A70A|SHISA5_uc003cto.1_Missense_Mutation_p.P131H|SHISA5_uc003ctq.1_Missense_Mutation_p.P155H|SHISA5_uc003ctr.1_Missense_Mutation_p.P131H|SHISA5_uc003cts.1_Missense_Mutation_p.P131H|SHISA5_uc003ctt.2_Missense_Mutation_p.P59H|SHISA5_uc003ctu.1_RNA|SHISA5_uc011bbl.1_Missense_Mutation_p.P60H NM_016479 NP_057563 Q8N114 SHSA5_HUMAN scotin precursor 162 Cytoplasmic (Potential).|Pro-rich. apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|integral to membrane|nuclear membrane signal transducer activity|WW domain binding 0 CACACTTGGAGGCTGAGGATA 0.607 NA 13 20 2.27e-07 2.49e-07 1 0 RNF123 63891 broad.mit.edu 37 3 49742142 49742142 + Missense_Mutation SNP A A G TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr3:49742142A>G uc003cxh.2 + 22 1998 c.1912A>G c.(1912-1914)ATG>GTG p.M638V RNF123_uc010hky.1_Missense_Mutation_p.M300V|RNF123_uc003cxi.2_RNA NM_022064 NP_071347 Q5XPI4 RN123_HUMAN ring finger protein 123 638 cytoplasm ligase activity|protein binding|zinc ion binding kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) GTCAACCGCCATGGATGACCT 0.587 NA 4 6 0 0 0 0 EPHB1 2047 broad.mit.edu 37 3 134884901 134884901 + Silent SNP C C T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr3:134884901C>T uc003eqt.2 + 8 1897 c.1677C>T c.(1675-1677)ATC>ATT p.I559I EPHB1_uc003equ.2_Silent_p.I120I NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 559 Helical; (Potential). integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 TGGTGGCCATCTCTATCGTCT 0.587 NA 32 106 0 0 0 0 ZIC1 7545 broad.mit.edu 37 3 147128258 147128258 + Missense_Mutation SNP T T C TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr3:147128258T>C uc003ewe.2 + 1 1078 c.359T>C c.(358-360)CTC>CCC p.L120P NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 120 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CAGCACAGCCTCTTTGCTGCA 0.706 NA 16 40 0 0 0 0 ATP11B 23200 broad.mit.edu 37 3 182597414 182597414 + Missense_Mutation SNP A A G TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr3:182597414A>G uc003flb.2 + 20 2640 c.2383A>G c.(2383-2385)ATG>GTG p.M795V ATP11B_uc003flc.2_Missense_Mutation_p.M379V|ATP11B_uc011bqm.1_Missense_Mutation_p.M99V|ATP11B_uc010hxf.1_5'UTR NM_014616 NP_055431 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 795 Cytoplasmic (Potential). aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) ATGCTGTCGTATGGCTCCACT 0.353 NA 22 67 0 0 0 0 CCDC50 152137 broad.mit.edu 37 3 191098615 191098615 + Splice_Site SNP A A C TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr3:191098615A>C uc003fsw.2 + 8 1200 c.610_splice c.e8-2 p.E204_splice CCDC50_uc003fsv.2_Splice_Site_p.E380_splice NM_174908 NP_777568 Q8IVM0 CCD50_HUMAN Ymer protein short isoform cytoplasm protein binding 0 all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000136) TATTTTGTTTAGGAAATCGCT 0.368 NA 11 42 0 0 0 0 GPR125 166647 broad.mit.edu 37 4 22439976 22439976 + Missense_Mutation SNP G G A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr4:22439976G>A uc003gqm.1 - 8 1253 c.988C>T c.(988-990)CGT>TGT p.R330C GPR125_uc010ieo.1_Missense_Mutation_p.R204C|GPR125_uc003gqn.1_Missense_Mutation_p.R104C|GPR125_uc003gqo.2_Missense_Mutation_p.R330C NM_145290 NP_660333 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 precursor 330 Extracellular (Potential).|Ig-like. neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity skin(1) 1 Breast(46;0.198) TTATTCCCACGTTTGGTCTGG 0.423 NA 29 46 0 0 0 0 SHROOM3 57619 broad.mit.edu 37 4 77676119 77676119 + Missense_Mutation SNP C C T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr4:77676119C>T uc011cbx.1 + 7 5436 c.4483C>T c.(4483-4485)CGG>TGG p.R1495W SHROOM3_uc003hkg.2_Missense_Mutation_p.R1273W NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 1495 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) GTCTGTCCTGCGGGACTCCCC 0.577 NA 20 55 0 0 0 0 CENPE 1062 broad.mit.edu 37 4 104070291 104070291 + Missense_Mutation SNP C C G TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr4:104070291C>G uc003hxb.1 - 27 3761 c.3671G>C c.(3670-3672)AGA>ACA p.R1224T CENPE_uc003hxc.1_Missense_Mutation_p.R1199T NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 1224 Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TTCAATTTCTCTTATATATCC 0.338 NA 21 39 0 0 0 0 SEC24B 10427 broad.mit.edu 37 4 110442694 110442694 + Missense_Mutation SNP G G T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr4:110442694G>T uc003hzk.2 + 14 2475 c.2420G>T c.(2419-2421)CGT>CTT p.R807L SEC24B_uc003hzl.2_Missense_Mutation_p.R772L|SEC24B_uc011cfp.1_Missense_Mutation_p.R837L|SEC24B_uc011cfq.1_Missense_Mutation_p.R806L|SEC24B_uc011cfr.1_Missense_Mutation_p.R771L NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 807 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) ACAGGTGGCCGTGTGTCTGTA 0.428 NA 18 21 4.97e-08 5.51e-08 1 0 HELT 391723 broad.mit.edu 37 4 185940787 185940787 + Nonsense_Mutation SNP C C T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr4:185940787C>T uc011ckq.1 + 3 274 c.274C>T c.(274-276)CAG>TAG p.Q92* HELT_uc011cko.1_Intron|HELT_uc003ixa.3_Intron|HELT_uc011ckp.1_5'UTR NM_001029887 NP_001025058 A6NFD8 HELT_HUMAN HES/HEY-like transcription factor 92 Helix-loop-helix motif. DNA binding 0 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) GGGCGAACCTCAGGAGGCTCT 0.746 NA 3 13 0 0 0 0 TIMD4 91937 broad.mit.edu 37 5 156346537 156346537 + Silent SNP T T A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr5:156346537T>A uc003lwh.2 - 9 1125 c.1068A>T c.(1066-1068)GGA>GGT p.G356G TIMD4_uc010jii.2_Silent_p.G328G|TIMD4_uc003lwg.2_Silent_p.G58G NM_138379 NP_612388 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain 356 Cytoplasmic (Potential). integral to membrane ovary(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTTTACTATCTCCAATGTAGT 0.423 NA 19 37 0 0 0 0 OSTM1 28962 broad.mit.edu 37 6 108370556 108370556 + Missense_Mutation SNP G G A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr6:108370556G>A uc003psd.2 - 5 936 c.850C>T c.(850-852)CCT>TCT p.P284S NM_014028 NP_054747 Q86WC4 OSTM1_HUMAN osteopetrosis associated transmembrane protein 1 284 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938) BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581) GCAATTACAGGCACTGTGTCA 0.398 NA 20 119 0 0 0 0 LACE1 246269 broad.mit.edu 37 6 108645100 108645100 + Missense_Mutation SNP G G A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr6:108645100G>A uc003psj.2 + 2 397 c.211G>A c.(211-213)GTT>ATT p.V71I NM_145315 NP_660358 Q8WV93 LACE1_HUMAN lactation elevated 1 71 ATP binding central_nervous_system(1) 1 all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152) BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118) AGCTTTGGCCGTTTGCCATGG 0.398 NA 118 74 0 0 0 0 ACAT2 39 broad.mit.edu 37 6 160199796 160199796 + Missense_Mutation SNP C C T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr6:160199796C>T uc010kjy.2 + 9 1260 c.1129C>T c.(1129-1131)CGT>TGT p.R377C ACAT2_uc011efw.1_Missense_Mutation_p.R406C|TCP1_uc003qsr.2_3'UTR|TCP1_uc003qss.2_3'UTR|TCP1_uc010kjz.2_3'UTR|TCP1_uc003qst.2_3'UTR NM_005891 NP_005882 Q9BWD1 THIC_HUMAN acetyl-Coenzyme A acetyltransferase 2 377 mitochondrion|nucleolus acetyl-CoA C-acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) GGGCAGAAGTCGTGGTGTTGC 0.478 NA 33 108 0 0 0 0 TNRC18 84629 broad.mit.edu 37 7 5427413 5427413 + Missense_Mutation SNP G G A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr7:5427413G>A uc003soi.3 - 5 2391 c.2042C>T c.(2041-2043)CCT>CTT p.P681L TNRC18_uc010ksx.1_Missense_Mutation_p.P607L NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 681 DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) AATGCCCACAGGCGGGTGTCG 0.701 NA 20 35 0 0 0 0 TMEM168 64418 broad.mit.edu 37 7 112424255 112424255 + Missense_Mutation SNP G G T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr7:112424255G>T uc003vgn.2 - 2 1018 c.626C>A c.(625-627)GCA>GAA p.A209E TMEM168_uc010lju.2_Missense_Mutation_p.A209E|TMEM168_uc011kmr.1_Intron NM_022484 NP_071929 Q9H0V1 TM168_HUMAN transmembrane protein 168 209 Helical; (Potential). integral to membrane|transport vesicle ovary(1)|central_nervous_system(1) 2 TAACAAAACTGCAAAAATAAC 0.333 NA 11 40 6.4e-05 6.88e-05 1 0 CTTNBP2 83992 broad.mit.edu 37 7 117351685 117351685 + Missense_Mutation SNP C C T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr7:117351685C>T uc003vjf.2 - 23 4990 c.4898G>A c.(4897-4899)AGC>AAC p.S1633N NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1633 ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TGTATTACTGCTGCTGCTGCT 0.383 NA 4 89 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139165127 139165127 + Missense_Mutation SNP C C G TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr8:139165127C>G uc003yuy.2 - 13 1762 c.1591G>C c.(1591-1593)GTG>CTG p.V531L FAM135B_uc003yux.2_Missense_Mutation_p.V432L|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.V93L|FAM135B_uc003yvb.2_Missense_Mutation_p.V93L NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 531 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ACATCTGCCACTGGATATGTC 0.458 NA HNSCC(54;0.14) 34 125 0 0 0 0 INSL4 3641 broad.mit.edu 37 9 5233853 5233853 + Silent SNP A A G TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr9:5233853A>G uc003ziy.2 + 2 501 c.396A>G c.(394-396)GGA>GGG p.G132G NM_002195 NP_002186 Q14641 INSL4_HUMAN insulin-like 4 precursor 132 cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction extracellular space|soluble fraction hormone activity|insulin-like growth factor receptor binding 0 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14) GTGACGATGGAACTTCAGTTA 0.363 NA 38 99 0 0 0 0 ZNF510 22869 broad.mit.edu 37 9 99522150 99522150 + Nonsense_Mutation SNP G G C TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr9:99522150G>C uc004awn.1 - 6 1151 c.962C>G c.(961-963)TCA>TGA p.S321* ZNF510_uc004awo.1_Nonsense_Mutation_p.S321* NM_014930 NP_055745 Q9Y2H8 ZN510_HUMAN zinc finger protein 510 321 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0527) CTCCACAGTTGACTTCTCAAA 0.358 NA 24 78 0 0 0 0 TEX10 54881 broad.mit.edu 37 9 103091488 103091488 + Missense_Mutation SNP C C A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr9:103091488C>A uc004bas.2 - 7 1774 c.1559G>T c.(1558-1560)CGG>CTG p.R520L TEX10_uc011lvf.1_Missense_Mutation_p.R359L|TEX10_uc011lvg.1_Missense_Mutation_p.R523L NM_017746 NP_060216 Q9NXF1 TEX10_HUMAN testis expressed 10 isoform 1 520 integral to membrane|MLL1 complex|nuclear membrane|nucleolus binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) TAACAAAGTCCGAACTGGAAG 0.343 NA 52 195 2.82e-22 3.47e-22 1 0 SH2D3C 10044 broad.mit.edu 37 9 130507362 130507362 + Silent SNP G G A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr9:130507362G>A uc004bsc.2 - 7 1423 c.1281C>T c.(1279-1281)GCC>GCT p.A427A SH2D3C_uc010mxo.2_Silent_p.A267A|SH2D3C_uc004bry.2_Silent_p.A269A|SH2D3C_uc004brz.3_Silent_p.A73A|SH2D3C_uc011mak.1_Silent_p.A73A|SH2D3C_uc004bsa.2_Silent_p.A270A|SH2D3C_uc004bsb.2_Silent_p.A359A NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C isoform a 427 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity ovary(1) 1 CTGCAGGGGCGGCATGGACAC 0.622 NA 24 37 0 0 0 0 CACNA1B 774 broad.mit.edu 37 9 140811748 140811748 + Silent SNP C C T TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr9:140811748C>T uc004cog.2 + 6 976 c.831C>T c.(829-831)TGC>TGT p.C277C NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 277 I.|Extracellular (Potential). membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CCCGGCTGTGCGAGGGCGACA 0.572 NA 43 54 0 0 0 0 CNKSR2 22866 broad.mit.edu 37 X 21534662 21534662 + Missense_Mutation SNP C C G TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chrX:21534662C>G uc004czx.1 + 9 906 c.870C>G c.(868-870)ATC>ATG p.I290M CNKSR2_uc004czw.2_Missense_Mutation_p.I290M|CNKSR2_uc011mjn.1_Intron|CNKSR2_uc011mjo.1_Missense_Mutation_p.I290M NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 290 PDZ. regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 GTGGTGTTATCTTAACTTTGA 0.433 NA 29 15 0 0 0 0 ATRX 546 broad.mit.edu 37 X 76776335 76776335 + Silent SNP T T C TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chrX:76776335T>C uc004ecp.3 - 34 7363 c.7131A>G c.(7129-7131)CAA>CAG p.Q2377Q ATRX_uc004ecq.3_Silent_p.Q2339Q|ATRX_uc004eco.3_Silent_p.Q2162Q NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 2377 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) CCTGGCTGGCTTGTCTACTTA 0.378 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 17 10 0 0 0 0 DDIT4 54541 broad.mit.edu 37 10 74034470 74034470 + Frame_Shift_Del DEL G G - TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr10:74034470delG uc001jsx.1 + 3 425 c.223delG c.(223-225)GGGfs p.G75fs NM_019058 NP_061931 Q9NX09 DDIT4_HUMAN RTP801 75 apoptosis pancreas(1) 1 TTACCTGGATGGGGTGTCGTT 0.587 NA 64 133 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7578527 7578527 + Frame_Shift_Del DEL A A - TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr17:7578527delA uc002gim.2 - 5 597 c.403delT c.(403-405)TGCfs p.C135fs TP53_uc002gig.1_Frame_Shift_Del_p.C135fs|TP53_uc002gih.2_Frame_Shift_Del_p.C135fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.C3fs|TP53_uc010cng.1_Frame_Shift_Del_p.C3fs|TP53_uc002gii.1_Frame_Shift_Del_p.C3fs|TP53_uc010cnh.1_Frame_Shift_Del_p.C135fs|TP53_uc010cni.1_Frame_Shift_Del_p.C135fs|TP53_uc002gij.2_Frame_Shift_Del_p.C135fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.C42fs|TP53_uc002gio.2_Frame_Shift_Del_p.C3fs|TP53_uc010vug.1_Frame_Shift_Del_p.C96fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 135 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> G (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.C135Y(49)|p.C135F(34)|p.C135W(19)|p.C135S(10)|p.C135fs*35(9)|p.0?(7)|p.C135*(7)|p.C135G(6)|p.C135R(6)|p.C135C(5)|p.C135fs*14(2)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*36(1)|p.C135fs*15(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.M133fs*13(1)|p.C135_T140delCQLAKT(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(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) GCCAGTTGGCAAAACATCTTG 0.567 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 24 11 --- --- --- --- NA NA NA NA ME1 4199 broad.mit.edu 37 6 83937086 83937091 + In_Frame_Del DEL ATTCTG ATTCTG - TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr6:83937086_83937091delATTCTG uc003pjy.2 - 11 1344_1349 c.1238_1243delCAGAAT c.(1237-1245)GCAGAATGT>GGT p.413_415AEC>G ME1_uc011dzb.1_In_Frame_Del_p.338_340AEC>G|ME1_uc011dzc.1_In_Frame_Del_p.247_249AEC>G NM_002395 NP_002386 P48163 MAOX_HUMAN cytosolic malic enzyme 1 413_415 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) TCTGCAGAACATTCTGCTTTGCTAGT 0.35 NA 8 43 --- --- --- --- NA NA NA NA GRIK2 2898 broad.mit.edu 37 6 102503431 102503432 + Frame_Shift_Ins INS - - A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr6:102503431_102503432insA uc003pqp.3 + 15 2787_2788 c.2538_2539insA c.(2536-2541)TCCAAAfs p.S846fs GRIK2_uc003pqo.3_Frame_Shift_Ins_p.S846fs|GRIK2_uc010kcw.2_Frame_Shift_Ins_p.S846fs NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 846_847 Cytoplasmic (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TATACAAATCCAAAAAAAACGC 0.351 NA 66 140 --- --- --- --- NA NA NA NA DCBLD1 285761 broad.mit.edu 37 6 117865742 117865742 + Splice_Site DEL T T - TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr6:117865742delT uc003pxs.2 + 13 1620 c.1495_splice c.e13+2 p.D499_splice GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Splice_Site_p.Q497_splice|DCBLD1_uc003pxt.1_Splice_Site_p.D154_splice NM_173674 NP_775945 Q8N8Z6 DCBD1_HUMAN discoidin, CUB and LCCL domain containing 1 cell adhesion integral to membrane ovary(1) 1 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) AGAAAACAGGTTGGTTGAAAA 0.393 NA 13 45 --- --- --- --- NA NA NA NA ZNF251 90987 broad.mit.edu 37 8 145947838 145947839 + Frame_Shift_Del DEL TC TC - TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d64e4e80-e6c6-42c8-8bc6-0fafb6475c51 e03b22c3-93a2-41a7-894f-020298a5f713 g.chr8:145947838_145947839delTC uc003zdv.3 - 5 1462_1463 c.1206_1207delGA c.(1204-1209)GAGAAAfs p.E402fs NM_138367 NP_612376 Q9BRH9 ZN251_HUMAN zinc finger protein 251 402_403 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) ACATAGGGTTTCTCTCCAGTAT 0.441 NA 45 214 --- --- --- --- NA NA NA NA