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 ACHILLES_Top_Genes 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 pox_cutoff isArtifactMode oxoGCut ACTRT2 140625 broad.mit.edu 37 1 2939237 2939237 + Silent SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr1:2939237C>A uc001ajz.2 + 1 1192 c.987C>A c.(985-987)ATC>ATA p.I329I NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN actin-related protein M2 329 cytoplasm|cytoskeleton 0 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) ACACCCCCATCAAGATCACGG 0.622 NA 25 78 3.78316e-11 5.06249e-11 0.00623 1 0 CSMD2 114784 broad.mit.edu 37 1 34286094 34286094 + Missense_Mutation SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr1:34286094C>T uc001bxn.1 - 8 1084 c.1055G>A c.(1054-1056)GGC>GAC p.G352D CSMD2_uc001bxm.1_Missense_Mutation_p.G392D NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 352 Extracellular (Potential).|Sushi 2. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TAGTCTTTTGCCCCTTTCGGG 0.463 NA 5 352 0 0 0.001168 0 0 RLF 6018 broad.mit.edu 37 1 40701712 40701712 + Silent SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr1:40701712G>A uc001cfc.3 + 8 1369 c.1338G>A c.(1336-1338)CCG>CCA p.P446P RLF_uc001cfd.3_Silent_p.P137P NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 446 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) AAAATGCACCGGTTCCAAATT 0.373 NA 4 165 0 0 0.009096 0 0 ELTD1 64123 broad.mit.edu 37 1 79357333 79357333 + Missense_Mutation SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr1:79357333G>A uc001diq.3 - 14 2042 c.1886C>T c.(1885-1887)ACC>ATC p.T629I NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 629 Helical; Name=6; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GATCCAGGTGGTGCCGAGAAG 0.463 NA 7 33 0 0 0.006214 0 0 DNTTIP2 30836 broad.mit.edu 37 1 94342195 94342195 + Silent SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr1:94342195G>A uc001dqf.2 - 2 1334 c.1296C>T c.(1294-1296)AAC>AAT p.N432N DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Silent_p.N227N NM_014597 NP_055412 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, 432 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) CCTGAGATGTGTTGGGCGCAG 0.388 NA 56 226 0 0 0.01441 0 0 COL11A1 1301 broad.mit.edu 37 1 103352528 103352528 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr1:103352528C>A uc001dul.2 - 63 5011 c.4693G>T c.(4693-4695)GCA>TCA p.A1565S COL11A1_uc001duk.2_Missense_Mutation_p.A761S|COL11A1_uc001dum.2_Missense_Mutation_p.A1577S|COL11A1_uc001dun.2_Missense_Mutation_p.A1526S|COL11A1_uc009weh.2_Missense_Mutation_p.A1449S NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1565 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) TTATCATCTGCATCTGCTTGC 0.393 NA 16 92 1.5739e-10 2.05646e-10 0.004007 1 0 NTRK1 4914 broad.mit.edu 37 1 156849038 156849038 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr1:156849038C>A uc001fqh.1 + 15 1986 c.1930C>A c.(1930-1932)CTG>ATG p.L644M NTRK1_uc001fqf.1_Missense_Mutation_p.L608M|NTRK1_uc009wsi.1_Missense_Mutation_p.L343M|NTRK1_uc001fqi.1_Missense_Mutation_p.L638M|NTRK1_uc009wsk.1_Missense_Mutation_p.L641M NM_002529 NP_002520 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 644 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) CCTGGCGGGTCTGCATTTTGT 0.632 NA T TPM3|TPR|TFG papillary thyroid TSP Lung(10;0.080) 13 38 0.00136819 0.00146328 0.013537 1 0 CD1A 909 broad.mit.edu 37 1 158226831 158226831 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr1:158226831G>T uc001frt.2 + 4 1393 c.860G>T c.(859-861)GGC>GTC p.G287V NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor 287 Extracellular (Potential).|Ig-like. antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) AGTCTAGAGGGCCAGGACATC 0.592 NA 32 72 2.49991e-28 4.19683e-28 0.003271 1 0 SEC16B 89866 broad.mit.edu 37 1 177911130 177911130 + Missense_Mutation SNP C C T rs139593986 by1000genomes TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr1:177911130C>T uc001gli.1 - 16 2017 c.1927G>A c.(1927-1929)GTG>ATG p.V643M SEC16B_uc001glk.1_Missense_Mutation_p.V320M|SEC16B_uc009wwy.1_Missense_Mutation_p.V198M|SEC16B_uc001glh.1_Missense_Mutation_p.V302M|SEC16B_uc009wwz.1_Missense_Mutation_p.V302M|SEC16B_uc001glj.1_Missense_Mutation_p.V644M NM_033127 NP_149118 Q96JE7 SC16B_HUMAN leucine zipper transcription regulator 2 643 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane ovary(3)|central_nervous_system(1) 4 GCCTGGGACACGAGGCCATAA 0.512 NA 23 44 0 0 0.00278 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179820234 179820234 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr1:179820234C>A uc001gnk.2 - 4 687 c.299G>T c.(298-300)GGG>GTG p.G100V TOR1AIP2_uc001gnl.2_Missense_Mutation_p.G100V NM_145034 NP_659471 Q8NFQ8 TOIP2_HUMAN torsin A interacting protein 2 100 endoplasmic reticulum membrane|integral to membrane protein binding ovary(1) 1 GAGGTGATGCCCTTTTCCGCC 0.458 NA 43 105 4.16155e-14 5.85151e-14 0.00874 1 0 CACNA1E 777 broad.mit.edu 37 1 181745281 181745281 + Nonsense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr1:181745281C>A uc001gow.2 + 38 5349 c.5184C>A c.(5182-5184)TAC>TAA p.Y1728* CACNA1E_uc009wxs.2_Nonsense_Mutation_p.Y1616*|CACNA1E_uc001gox.1_Nonsense_Mutation_p.Y954*|CACNA1E_uc009wxt.2_Nonsense_Mutation_p.Y954* NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1728 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 ACTTTGAGTACCTGACTCGGG 0.567 NA 40 252 9.9191e-30 1.68564e-29 0.00874 1 0 CRB1 23418 broad.mit.edu 37 1 197390454 197390454 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr1:197390454G>T uc001gtz.2 + 6 1631 c.1496G>T c.(1495-1497)GGC>GTC p.G499V CRB1_uc010poz.1_Missense_Mutation_p.G430V|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.G387V|CRB1_uc010ppb.1_Missense_Mutation_p.G499V|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.G148V NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 499 Extracellular (Potential).|Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 GTCAAAAGTGGCTCAGTGACA 0.502 NA 32 54 8.4185e-14 1.17774e-13 0.012213 1 0 TMEM9 252839 broad.mit.edu 37 1 201120964 201120964 + Missense_Mutation SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr1:201120964C>T uc001gvw.2 - 3 405 c.83G>A c.(82-84)CGG>CAG p.R28Q TMEM9_uc001gvx.2_Missense_Mutation_p.R28Q|TMEM9_uc001gvy.2_Missense_Mutation_p.R28Q|TMEM9_uc010ppo.1_Missense_Mutation_p.R53Q|TMEM9_uc001gvz.2_Missense_Mutation_p.R31Q|TMEM9_uc001gwa.2_Missense_Mutation_p.R28Q|TMEM9_uc010ppp.1_Missense_Mutation_p.R28Q NM_016456 NP_057540 Q9P0T7 TMEM9_HUMAN transmembrane protein 9 precursor 28 Extracellular (Potential). transport integral to membrane|late endosome membrane|lysosomal membrane 0 Breast(1374;0.000301) GCATTTGCACCGGATATCTTC 0.488 NA 13 212 0 0 0.004007 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204237400 204237400 + Missense_Mutation SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr1:204237400C>T uc001hau.2 - 4 460 c.143G>A c.(142-144)CGC>CAC p.R48H NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN phosphoinositol 3-phosphate-binding protein-3 48 ovary(3)|pancreas(1) 4 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GGAGTGTGAGCGCTTGCCAAA 0.612 NA 25 57 0 0 0.004656 0 0 C1orf95 375057 broad.mit.edu 37 1 226784558 226784558 + Missense_Mutation SNP C C G TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr1:226784558C>G uc010pvn.1 + 2 363 c.258C>G c.(256-258)GAC>GAG p.D86E NM_001003665 NP_001003665 Q69YW2 CA095_HUMAN hypothetical protein LOC375057 86 integral to membrane ovary(1) 1 Breast(184;0.133) Prostate(94;0.0885) GBM - Glioblastoma multiforme(131;0.113) ACCTCCCGGACAGGCATGTGT 0.612 NA 6 242 0 0 0.004482 0 0 OBSCN 84033 broad.mit.edu 37 1 228565299 228565299 + Missense_Mutation SNP A A G TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr1:228565299A>G uc009xez.1 + 102 23433 c.23389A>G c.(23389-23391)ATG>GTG p.M7797V OBSCN_uc001hsr.1_Missense_Mutation_p.M2426V NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 7797 Protein kinase 2. 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) GTCCGAGAACATGATCATCAC 0.552 NA 13 62 0 0 0.013537 0 0 TRIM67 440730 broad.mit.edu 37 1 231349585 231349585 + Silent SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr1:231349585G>A uc009xfn.1 + 9 2190 c.2148G>A c.(2146-2148)GGG>GGA p.G716G NM_001004342 NP_001004342 Q6ZTA4 TRI67_HUMAN tripartite motif-containing 67 716 B30.2/SPRY. cytoplasm|cytoskeleton zinc ion binding ovary(2)|breast(1)|kidney(1) 4 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) TGTGCAAGGGGGCCACCGTGG 0.592 NA 24 158 0 0 0.010818 0 0 PCNXL2 80003 broad.mit.edu 37 1 233344406 233344406 + Missense_Mutation SNP T T A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr1:233344406T>A uc001hvl.2 - 13 2956 c.2721A>T c.(2719-2721)AGA>AGT p.R907S PCNXL2_uc009xfu.2_RNA|PCNXL2_uc001hvp.1_RNA|PCNXL2_uc009xfv.1_RNA|PCNXL2_uc001hvq.1_Missense_Mutation_p.R206S NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 907 Helical; (Potential). integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) AATAGATTGGTCTGCTATATG 0.398 NA 12 65 0 0 0.003163 0 0 RYR2 6262 broad.mit.edu 37 1 237813354 237813354 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr1:237813354G>T uc001hyl.1 + 50 7810 c.7690G>T c.(7690-7692)GCT>TCT p.A2564S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2564 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACTTACCAAAGCTCAGCGGGA 0.403 NA 56 171 3.00063e-23 4.88926e-23 0.01441 1 0 FMN2 56776 broad.mit.edu 37 1 240371509 240371509 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr1:240371509C>A uc010pyd.1 + 5 3622 c.3397C>A c.(3397-3399)CCC>ACC p.P1133T FMN2_uc010pye.1_Missense_Mutation_p.P1137T NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1133 Pro-rich.|FH1. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) ACCCCCTCCTCCCCCTCTTCC 0.716 NA 6 15 5.18039e-06 6.00405e-06 0.00308 1 0 C10orf18 54906 broad.mit.edu 37 10 5777379 5777379 + Silent SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr10:5777379G>A uc001iij.2 + 12 1942 c.1317G>A c.(1315-1317)AGG>AGA p.R439R C10orf18_uc001iik.2_Intron NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 439 ovary(1)|central_nervous_system(1) 2 AAAGGGCAAGGAAACAAGAGA 0.388 NA 5 214 0 0 0.000602 0 0 C10orf53 282966 broad.mit.edu 37 10 50916423 50916423 + Missense_Mutation SNP T T A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr10:50916423T>A uc001jid.1 + 3 294 c.234T>A c.(232-234)AGT>AGA p.S78R NM_182554 NP_872360 Q8N6V4 CJ053_HUMAN chromosome 10 open reading frame 53 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 0 all_neural(218;0.107) tcaccccaagtagtgacaaga 0 NA 31 83 0 0 0.010818 0 0 UNC5B 219699 broad.mit.edu 37 10 73056384 73056384 + Missense_Mutation SNP G G C TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr10:73056384G>C uc001jro.2 + 15 2820 c.2375G>C c.(2374-2376)TGC>TCC p.C792S UNC5B_uc001jrp.2_Missense_Mutation_p.C781S NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B precursor 792 Cytoplasmic (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane ovary(2)|lung(1) 3 GCCCTCCACTGCACTTTCACC 0.612 NA 3 34 0 0 0.001168 0 0 TNKS2 80351 broad.mit.edu 37 10 93576936 93576936 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr10:93576936G>T uc001khp.2 + 3 767 c.470G>T c.(469-471)GGA>GTA p.G157V NM_025235 NP_079511 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related 157 positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding kidney(3)|skin(3)|ovary(1)|lung(1) 8 Colorectal(252;0.162) AATACAGATGGAAGGACAGCA 0.408 NA 6 14 2.0095e-06 2.35861e-06 0.001984 1 0 NLRP14 338323 broad.mit.edu 37 11 7059986 7059986 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr11:7059986G>T uc001mfb.1 + 2 492 c.169G>T c.(169-171)GAC>TAC p.D57Y NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 57 DAPIN. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) CAGGCGGGAGGACCTGGCCAA 0.453 NA 13 78 0.000219431 0.000242161 0.00245 1 0 USH1C 10083 broad.mit.edu 37 11 17552759 17552759 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr11:17552759C>A uc001mnf.2 - 4 438 c.329G>T c.(328-330)TGT>TTT p.C110F USH1C_uc001mne.2_Missense_Mutation_p.C110F|USH1C_uc009yhb.2_Missense_Mutation_p.C110F|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.C74F NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN harmonin isoform a 110 PDZ 1. equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding ovary(1) 1 GAAGAGCCCACAGCCAAACTC 0.657 NA 18 81 0.000175454 0.000194403 0.010504 1 0 TSG101 7251 broad.mit.edu 37 11 18503191 18503192 + Missense_Mutation DNP CC CC AG TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr11:18503191_18503192CC>AG uc001mor.2 - 9 1194_1195 c.1068_1069GG>CT c.(1066-1071)CTGGAT>CTCTAT p.D357Y NM_006292 NP_006283 Q99816 TS101_HUMAN tumor susceptibility gene 101 357 SB. cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding 0 AGGAAGACATCCAGGTCTATCA 0.406 GBM(99;1348 1396 8611 26475 50572) NA 25 76 0 0 0.004672 0 0 NAV2 89797 broad.mit.edu 37 11 19890506 19890506 + Silent SNP A A T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr11:19890506A>T uc010rdm.1 + 4 835 c.474A>T c.(472-474)GCA>GCT p.A158A NAV2_uc001mpp.2_Silent_p.A94A|NAV2_uc001mpr.3_Silent_p.A158A NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 158 CH. nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 ATTTCCTGGCAGCTAAGGGAA 0.433 NA 16 42 0 0 0.014323 0 0 KCNA4 3739 broad.mit.edu 37 11 30033103 30033104 + Nonsense_Mutation DNP CC CC AA TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr11:30033103_30033104CC>AA uc001msk.2 - 2 2274_2275 c.1122_1123GG>TT c.(1120-1125)GTGGAA>GTTTAA p.E375* NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 375 Helical; Name=Segment S2; (Potential). voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CAGACTGTTTCCACGATGAAGA 0.46 NA 35 113 0 0 0.004672 0 0 RAG2 5897 broad.mit.edu 37 11 36614627 36614627 + Missense_Mutation SNP G G T rs150349031 byFrequency TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr11:36614627G>T uc001mwv.3 - 2 1280 c.1092C>A c.(1090-1092)AAC>AAA p.N364K RAG1_uc001mwt.2_RNA|C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank NM_000536 NP_000527 P55895 RAG2_HUMAN recombination activating gene 2 364 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding skin(3)|ovary(1)|pancreas(1) 5 all_lung(20;0.226) all_hematologic(20;0.00756) ATGTTTGACTGTTTGTGAATG 0.368 NA Familial_Hemophagocytic_Lymphohistiocytosis 45 157 1.22674e-20 1.94176e-20 0.00874 1 0 PTPRJ 5795 broad.mit.edu 37 11 48146645 48146645 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr11:48146645G>T uc001ngp.3 + 6 1355 c.1000G>T c.(1000-1002)GGG>TGG p.G334W PTPRJ_uc001ngo.3_Missense_Mutation_p.G334W NM_002843 NP_002834 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 334 Extracellular (Potential).|Fibronectin type-III 3. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|kidney(3)|ovary(1)|skin(1) 8 CCTGCTTGTCGGGTTAGAGCC 0.607 NA 50 180 7.06795e-37 1.24702e-36 0.01441 1 0 OR5D16 390144 broad.mit.edu 37 11 55607017 55607017 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr11:55607017C>A uc010rio.1 + 1 790 c.790C>A c.(790-792)CCC>ACC p.P264T NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 264 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) CTACTGTGTACCCAACTCCAA 0.522 NA 18 84 0.000295444 0.000322196 0.014323 1 0 OR5B3 441608 broad.mit.edu 37 11 58170034 58170034 + Silent SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr11:58170034C>A uc010rkf.1 - 1 849 c.849G>T c.(847-849)CTG>CTT p.L283L NM_001005469 NP_001005469 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, 283 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) CCAGAGGGTTCAGCATGGGGA 0.428 NA 12 81 3.01185e-09 3.72447e-09 0.003954 1 0 OR4D6 219983 broad.mit.edu 37 11 59225059 59225059 + Missense_Mutation SNP T T A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr11:59225059T>A uc010rku.1 + 1 626 c.626T>A c.(625-627)CTC>CAC p.L209H NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, 209 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GTGACCCTGCTCTGGTTCCTC 0.557 NA 38 149 0 0 0.00623 0 0 SCGB2A2 4250 broad.mit.edu 37 11 62037700 62037700 + Silent SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr11:62037700G>T uc001ntc.2 + 1 71 c.12G>T c.(10-12)CTG>CTT p.L4L SCGB2A2_uc009ynx.2_Silent_p.L4L NM_002411 NP_002402 Q13296 SG2A2_HUMAN secretoglobin, family 2A, member 2 precursor 4 extracellular region steroid binding ovary(1) 1 TGAAGTTGCTGATGGTCCTCA 0.602 NA 46 214 2.12129e-23 3.4769e-23 0.01441 1 0 EML3 256364 broad.mit.edu 37 11 62373360 62373360 + Silent SNP T T C TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr11:62373360T>C uc001ntu.1 - 14 2057 c.1749A>G c.(1747-1749)GGA>GGG p.G583G EML3_uc001ntr.1_Silent_p.G555G|EML3_uc001nts.1_Silent_p.G555G|EML3_uc001ntt.1_Silent_p.G467G|EML3_uc010rly.1_Silent_p.G583G NM_153265 NP_694997 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 583 cytoplasm|microtubule protein binding ovary(1) 1 GGGCCAGGTCTCCCCTCAGCA 0.612 NA 34 118 0 0 0.004289 0 0 NOX4 50507 broad.mit.edu 37 11 89088203 89088203 + Nonsense_Mutation SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr11:89088203G>A uc001pct.2 - 13 1383 c.1144C>T c.(1144-1146)CGA>TGA p.R382* NOX4_uc009yvr.2_Nonsense_Mutation_p.R357*|NOX4_uc001pcu.2_Nonsense_Mutation_p.R308*|NOX4_uc001pcw.2_Nonsense_Mutation_p.R75*|NOX4_uc001pcx.2_Nonsense_Mutation_p.R75*|NOX4_uc001pcv.2_Nonsense_Mutation_p.R382*|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Nonsense_Mutation_p.R216*|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Nonsense_Mutation_p.R358*|NOX4_uc009yvq.2_Nonsense_Mutation_p.R358* NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a 382 FAD-binding FR-type.|Extracellular (Potential).|Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AGTAAATCTCGAAATCGTTCT 0.328 NA 7 42 0 0 0.001984 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103029646 103029646 + Missense_Mutation SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr11:103029646G>A uc001pho.2 + 28 4412 c.4268G>A c.(4267-4269)CGC>CAC p.R1423H DYNC2H1_uc001phn.1_Missense_Mutation_p.R1423H|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 1423 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TAGGAAAAACGCTCAGCATTC 0.274 NA 3 16 0 0 0.004672 0 0 WNT5B 81029 broad.mit.edu 37 12 1741938 1741938 + Nonsense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr12:1741938C>A uc009zdq.2 + 3 437 c.195C>A c.(193-195)TAC>TAA p.Y65* WNT5B_uc001qjj.2_Nonsense_Mutation_p.Y65*|WNT5B_uc001qjk.2_Nonsense_Mutation_p.Y65*|WNT5B_uc001qjl.2_Nonsense_Mutation_p.Y65* NM_032642 NP_116031 Q9H1J7 WNT5B_HUMAN wingless-type MMTV integration site family, 65 angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) GCCAATTGTACCAGGAGCACA 0.612 NA 40 140 1.49673e-21 2.42453e-21 0.00623 1 0 A2ML1 144568 broad.mit.edu 37 12 8976459 8976459 + Silent SNP C C G TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr12:8976459C>G uc001quz.3 + 3 488 c.390C>G c.(388-390)CTC>CTG p.L130L NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor Error:Variant_position_missing_in_B3KVV6_after_alignment extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 ACAAACCTCTCTACACCCCAG 0.493 NA 13 76 0 0 0.001855 0 0 ABCC9 10060 broad.mit.edu 37 12 22012531 22012531 + Missense_Mutation SNP T T C TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr12:22012531T>C uc001rfi.1 - 20 2514 c.2494A>G c.(2494-2496)ATT>GTT p.I832V ABCC9_uc001rfh.2_Missense_Mutation_p.I832V|ABCC9_uc001rfj.1_Missense_Mutation_p.I796V NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 832 Cytoplasmic (Potential).|ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AAAAAGACAATGTTGGTGTTT 0.423 NA 38 120 0 0 0.00623 0 0 SOX5 6660 broad.mit.edu 37 12 23818455 23818455 + Missense_Mutation SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr12:23818455G>A uc001rfw.2 - 7 956 c.854C>T c.(853-855)CCT>CTT p.P285L SOX5_uc001rfx.2_Missense_Mutation_p.P272L|SOX5_uc001rfy.2_Missense_Mutation_p.P272L|SOX5_uc010siv.1_Missense_Mutation_p.P272L|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.P237L NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 285 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 CCGTTGATCAGGAGGGAATAC 0.488 NA 28 87 0 0 0.013726 0 0 FGD4 121512 broad.mit.edu 37 12 32735088 32735088 + Missense_Mutation SNP C C G TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr12:32735088C>G uc001rkz.2 + 4 764 c.287C>G c.(286-288)GCA>GGA p.A96G FGD4_uc001rlc.2_Missense_Mutation_p.A181G|FGD4_uc001rky.2_5'UTR|FGD4_uc001rla.2_5'UTR|FGD4_uc010ske.1_Missense_Mutation_p.A208G|FGD4_uc001rlb.1_RNA|FGD4_uc001rkx.3_Missense_Mutation_p.A96G NM_139241 NP_640334 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 96 Actin filament-binding (By similarity). actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) GTAATGGCAGCACAAAACCAG 0.473 NA 5 66 0 0 0.006214 0 0 METTL7A 25840 broad.mit.edu 37 12 51319018 51319018 + Missense_Mutation SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr12:51319018C>T uc001rxb.2 + 1 485 c.197C>T c.(196-198)GCG>GTG p.A66V METTL7A_uc010smv.1_Missense_Mutation_p.A66V NM_014033 NP_054752 Q9H8H3 MET7A_HUMAN methyltransferase like 7A precursor 66 endoplasmic reticulum|lipid particle|membrane methyltransferase activity 0 CAGGAGTTTGCGGGCCCCTCC 0.552 NA 4 77 0 0 0.009096 0 0 KRT79 338785 broad.mit.edu 37 12 53215788 53215788 + Silent SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr12:53215788C>A uc001sbb.2 - 9 1509 c.1476G>T c.(1474-1476)GGG>GGT p.G492G KRT79_uc001sba.2_Silent_p.G263G NM_175834 NP_787028 Q5XKE5 K2C79_HUMAN keratin 6L 492 Tail. keratin filament structural molecule activity ovary(2)|skin(2) 4 CCCCCCCACTCCCACCCAGGG 0.612 NA 17 58 3.41278e-10 4.39693e-10 0.00499 1 0 RARG 5916 broad.mit.edu 37 12 53607014 53607014 + Silent SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr12:53607014C>T uc001sce.2 - 9 1517 c.1032G>A c.(1030-1032)CTG>CTA p.L344L RARG_uc001scd.2_Silent_p.L333L|RARG_uc010sob.1_Silent_p.L322L|RARG_uc001scf.2_Silent_p.L344L|RARG_uc001scg.2_Silent_p.L272L|RARG_uc010soc.1_Silent_p.L223L NM_000966 NP_000957 P13631 RARG_HUMAN retinoic acid receptor, gamma isoform 1 344 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|ovary(1)|lung(1) 4 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) CGGGCTCCTCCAGGTCCATGC 0.597 NA OREG0021862 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 56 0 0 0.008291 0 0 NTS 4922 broad.mit.edu 37 12 86268247 86268247 + Silent SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr12:86268247G>T uc001tag.2 + 1 173 c.66G>T c.(64-66)CTG>CTT p.L22L NM_006183 NP_006174 P30990 NEUT_HUMAN neurotensin/neuromedin N preproprotein 22 regulation of blood vessel size|signal transduction extracellular region|soluble fraction|transport vesicle neuropeptide hormone activity 0 CCTGGAGTCTGTGCTCAGGTA 0.423 NA 15 50 2.32078e-09 2.89575e-09 0.003163 1 0 MED13L 23389 broad.mit.edu 37 12 116413011 116413011 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr12:116413011C>A uc001tvw.2 - 25 5751 c.5696G>T c.(5695-5697)GGG>GTG p.G1899V NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1899 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) CCCAAGTCGCCCGATTACAAC 0.443 NA 16 58 0.000308642 0.00033527 0.003163 1 0 TAOK3 51347 broad.mit.edu 37 12 118650764 118650764 + Missense_Mutation SNP C C A rs147202627 byFrequency TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr12:118650764C>A uc001twx.2 - 11 1069 c.774G>T c.(772-774)TTG>TTT p.L258F TAOK3_uc001tww.2_Missense_Mutation_p.L88F|TAOK3_uc001twy.3_Missense_Mutation_p.L258F NM_016281 NP_057365 Q9H2K8 TAOK3_HUMAN TAO kinase 3 258 Protein kinase. MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTATTTTCTGCAAGCAGTAAT 0.358 NA 8 28 2.27111e-07 2.71163e-07 0.013537 1 0 N4BP2L2 10443 broad.mit.edu 37 13 33092138 33092138 + Missense_Mutation SNP C C G TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr13:33092138C>G uc001uuk.3 - 6 1731 c.1553G>C c.(1552-1554)AGG>ACG p.R518T N4BP2L2_uc001uuj.2_Missense_Mutation_p.R34T|N4BP2L2_uc010abe.1_Missense_Mutation_p.R89T|N4BP2L2_uc010tdz.1_Missense_Mutation_p.R74T NM_014887 NP_055702 Q92802 N42L2_HUMAN phosphonoformate immuno-associated protein 5 518 0 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) ATGTTTATTCCTCCTAACAAA 0.318 NA 13 35 0 0 0.00245 0 0 DACH1 1602 broad.mit.edu 37 13 72440283 72440283 + Missense_Mutation SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr13:72440283C>T uc010thn.1 - 2 1042 c.619G>A c.(619-621)GAG>AAG p.E207K DACH1_uc010tho.1_Missense_Mutation_p.E207K|DACH1_uc010thp.1_Missense_Mutation_p.E207K NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 207 Interaction with SIX6 and HDAC3 (By similarity).|DACHbox-N. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) CAGATCAGCTCGCAGCCCTCC 0.587 NA 20 56 0 0 0.00278 0 0 UGGT2 55757 broad.mit.edu 37 13 96515938 96515938 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr13:96515938C>A uc001vmt.2 - 31 3759 c.3589G>T c.(3589-3591)GAT>TAT p.D1197Y NM_020121 NP_064506 Q9NYU1 UGGG2_HUMAN UDP-glucose ceramide glucosyltransferase-like 2 1197 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity ovary(2)|central_nervous_system(1) 3 GTAAGGATATCTTCCTTAATT 0.308 NA 9 73 0.00621372 0.00656946 0.006214 1 0 FGF14 2259 broad.mit.edu 37 13 102375188 102375188 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr13:102375188G>T uc001vpe.2 - 5 737 c.737C>A c.(736-738)ACA>AAA p.T246K FGF14_uc001vpf.2_Missense_Mutation_p.T251K|FGF14_uc001vpd.1_5'Flank NM_004115 NP_004106 Q92915 FGF14_HUMAN fibroblast growth factor 14 isoform 1A 246 cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction nucleus growth factor activity|heparin binding ovary(2)|lung(1)|large_intestine(1) 4 all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGGCTATGTTGTCTTACTCTT 0.498 NA 18 47 1.00905e-13 1.40455e-13 0.008871 1 0 OR4N2 390429 broad.mit.edu 37 14 20296431 20296431 + Missense_Mutation SNP A A T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr14:20296431A>T uc010tkv.1 + 1 824 c.824A>T c.(823-825)CAC>CTC p.H275L NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 275 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTCTCTTCCACACAGTGATT 0.433 NA 19 144 0 0 0.007413 0 0 OR4K15 81127 broad.mit.edu 37 14 20443788 20443788 + Silent SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr14:20443788G>T uc010tkx.1 + 1 111 c.111G>T c.(109-111)GTG>GTT p.V37V NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, 37 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) CAGAATTTGTGTTGCTGGGAC 0.398 NA 40 155 1.8453e-21 2.97179e-21 0.010771 1 0 C14orf28 122525 broad.mit.edu 37 14 45373686 45373686 + Missense_Mutation SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr14:45373686G>A uc001wvo.2 + 4 969 c.703G>A c.(703-705)GAA>AAA p.E235K C14orf28_uc001wvp.1_Missense_Mutation_p.E235K NM_001017923 NP_001017923 Q4W4Y0 CN028_HUMAN hypothetical protein LOC122525 235 ovary(1) 1 TTGGAAATCTGAAGATCTGGC 0.348 NA 6 101 0 0 0.001168 0 0 PTGDR 5729 broad.mit.edu 37 14 52735015 52735015 + Silent SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr14:52735015G>T uc001wzq.2 + 1 585 c.483G>T c.(481-483)CTG>CTT p.L161L NM_000953 NP_000944 Q13258 PD2R_HUMAN prostaglandin D2 receptor 161 Helical; Name=4; (Potential). integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) CCTTCTCCCTGGCTTTCTGCG 0.637 NA 43 152 2.24893e-16 3.29605e-16 0.009718 1 0 ADAM21P1 145241 broad.mit.edu 37 14 70712902 70712902 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr14:70712902G>T uc010ttg.1 - 1 1617 c.966C>A c.(964-966)GAC>GAA p.D322E NR_003951 SubName: Full=ADAM21-like protein; 0 AGGGGATCCCGTCCTGCACAT 0.448 NA 14 51 1.5739e-10 2.05646e-10 0.004007 1 0 CATSPERB 79820 broad.mit.edu 37 14 92074715 92074715 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr14:92074715C>A uc001xzs.1 - 22 2772 c.2632G>T c.(2632-2634)GCT>TCT p.A878S CATSPERB_uc010aub.1_Missense_Mutation_p.A400S NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN cation channel, sperm-associated, beta 878 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(2)|skin(2)|ovary(1) 5 all_cancers(154;0.0663)|all_epithelial(191;0.236) AGTGGAATAGCAATTCCCATA 0.299 NA 10 50 2.80697e-09 3.48669e-09 0.010729 1 0 UBR7 55148 broad.mit.edu 37 14 93686679 93686679 + Nonsense_Mutation SNP C C T rs147191980 TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr14:93686679C>T uc001ybm.3 + 9 1281 c.1045C>T c.(1045-1047)CAG>TAG p.Q349* UBR7_uc001ybn.3_Nonsense_Mutation_p.Q273*|UBR7_uc010auq.2_Nonsense_Mutation_p.Q198* NM_175748 NP_786924 Q8N806 UBR7_HUMAN ubiquitin protein ligase E3 component n-recognin 349 ubiquitin-protein ligase activity|zinc ion binding 0 GAAGATTGCCCAGGCCACTGA 0.418 NA 32 138 0 0 0.004289 0 0 OR4N3P 390539 broad.mit.edu 37 15 22413749 22413749 + Silent SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr15:22413749C>A uc001yuf.2 + 1 48 c.48C>A c.(46-48)GGC>GGA p.G16G NM_001080841 NP_001074310 RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13; 0 CCTACAGAGGCTGCATCACTC 0.517 NA 30 289 3.03874e-20 4.72882e-20 0.003271 1 0 C15orf2 23742 broad.mit.edu 37 15 24921511 24921511 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr15:24921511C>A uc001ywo.2 + 1 971 c.497C>A c.(496-498)CCG>CAG p.P166Q NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 166 cell differentiation|multicellular organismal development|spermatogenesis p.P166P(1) ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) GATGAGGATCCGGTGCAGATC 0.632 NA 18 68 9.16793e-09 1.11873e-08 0.00499 1 0 GABRA5 2558 broad.mit.edu 37 15 27128544 27128544 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr15:27128544G>T uc001zbd.1 + 7 676 c.337G>T c.(337-339)GGG>TGG p.G113W GABRB3_uc001zbb.2_Intron NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 113 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCGGTTTAAGGGGCCCATGCA 0.542 NA 36 84 1.57019e-19 2.403e-19 0.007835 1 0 GABRG3 2567 broad.mit.edu 37 15 27765182 27765182 + Silent SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr15:27765182G>A uc001zbg.1 + 7 943 c.777G>A c.(775-777)CAG>CAA p.Q259Q NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 259 Helical; (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) TCACCATTCAGACATACATTC 0.343 NSCLC(114;800 1656 7410 37729 45293) NA 3 8 0 0 0.009096 0 0 HERC2 8924 broad.mit.edu 37 15 28459224 28459224 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr15:28459224C>A uc001zbj.2 - 41 6659 c.6553G>T c.(6553-6555)GGG>TGG p.G2185W NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 2185 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AAACCCACCCCTTCGGAAGGC 0.537 NA 28 71 1.80694e-10 2.34988e-10 0.009535 1 0 MGA 23269 broad.mit.edu 37 15 42042148 42042148 + Nonsense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr15:42042148G>T uc010ucy.1 + 17 6524 c.6343G>T c.(6343-6345)GAA>TAA p.E2115* MGA_uc010ucz.1_Nonsense_Mutation_p.E1906*|MGA_uc010uda.1_Nonsense_Mutation_p.E731*|MGA_uc001zoi.2_Nonsense_Mutation_p.E329* NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 2076 Basic motif. MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TGTGAAGGTGGAACAGCAGAA 0.363 NA 8 31 2.74318e-10 3.55075e-10 0.006214 1 0 ATP8B4 79895 broad.mit.edu 37 15 50264909 50264909 + Silent SNP A A T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr15:50264909A>T uc001zxu.2 - 13 1255 c.1113T>A c.(1111-1113)CCT>CCA p.P371P ATP8B4_uc010ber.2_Silent_p.P244P|ATP8B4_uc010ufd.1_Silent_p.P244P|ATP8B4_uc010ufe.1_RNA NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 371 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) GAGCCACTGCAGGTATTGCTT 0.418 NA 9 30 0 0 0.004007 0 0 CCDC33 80125 broad.mit.edu 37 15 74559018 74559018 + Splice_Site SNP G G C TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr15:74559018G>C uc002axo.2 + 4 714 c.320_splice c.e4-1 p.D107_splice CCDC33_uc002axp.2_5'Flank NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 isoform 1 protein binding ovary(3)|skin(2) 5 TCTCTTTCCAGATGTGATCCT 0.448 NA 38 177 0 0 0.00874 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79088964 79088964 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr15:79088964C>A uc002bej.3 - 4 998 c.787G>T c.(787-789)GTT>TTT p.V263F ADAMTS7_uc010und.1_Missense_Mutation_p.V263F|ADAMTS7_uc002bek.1_Missense_Mutation_p.V263F NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 263 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 TAGCTCTCAACCTGCGGCTGT 0.562 NA 47 193 9.59835e-30 1.6412e-29 0.01441 1 0 ZNF592 9640 broad.mit.edu 37 15 85327613 85327613 + Silent SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr15:85327613G>A uc002bld.2 + 4 2043 c.1707G>A c.(1705-1707)GCG>GCA p.A569A ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 569 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) CCCTCTATGCGCCAAATCTCA 0.597 NA 27 126 0 0 0.00632 0 0 AGBL1 123624 broad.mit.edu 37 15 87217502 87217502 + Splice_Site SNP A A G TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr15:87217502A>G uc002blz.1 + 22 3000 c.2920_splice c.e22-2 p.G974_splice NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 TTTAACTGGCAGGGTCTACAG 0.478 NA 6 15 0 0 0.001984 0 0 FES 2242 broad.mit.edu 37 15 91434895 91434895 + Missense_Mutation SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr15:91434895G>A uc002bpv.2 + 12 1738 c.1642G>A c.(1642-1644)GCT>ACT p.A548T FES_uc010uqj.1_Missense_Mutation_p.A420T|FES_uc010uqk.1_Missense_Mutation_p.A530T|FES_uc002bpw.2_RNA|FES_uc010bny.2_Missense_Mutation_p.A420T|FES_uc002bpx.2_Missense_Mutation_p.A478T|FES_uc002bpy.2_Missense_Mutation_p.A490T NM_002005 NP_001996 P07332 FES_HUMAN feline sarcoma oncogene isoform 1 548 SH2. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CCTGCACAGGGCTGTGCCCAA 0.622 NA 4 111 0 0 0.009096 0 0 LRRK1 79705 broad.mit.edu 37 15 101601410 101601410 + Missense_Mutation SNP A A T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr15:101601410A>T uc002bwr.2 + 30 5033 c.4714A>T c.(4714-4716)ATG>TTG p.M1572L LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1572 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GAAGGGCCTCATGGAGGTGCA 0.617 NA 12 48 0 0 0.013537 0 0 Unknown 0 broad.mit.edu 37 15 102292829 102292829 + Missense_Mutation SNP C C G TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr15:102292829C>G uc010usj.1 + 4 476 c.417C>G c.(415-417)CAC>CAG p.H139Q uc002bxo.2_5'Flank|uc002bxp.3_5'Flank|uc002bxt.2_5'Flank|uc002bxz.3_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank|uc002byf.1_5'Flank|uc002byg.2_5'Flank|uc002byi.2_5'Flank|uc002byk.2_5'Flank|uc002bym.2_5'Flank|uc002byn.2_5'Flank|uc010usm.1_5'Flank|uc002byr.2_5'Flank RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment; NA CGAGAAGACACTCGTGGAGGC 0.597 NA 2 7 0 0 0.004672 0 0 NARFL 64428 broad.mit.edu 37 16 781625 781625 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr16:781625C>A uc002cjr.2 - 9 986 c.974G>T c.(973-975)CGG>CTG p.R325L NARFL_uc002cjp.2_Missense_Mutation_p.R223L|NARFL_uc002cjq.2_Missense_Mutation_p.R223L|NARFL_uc002cjs.2_Missense_Mutation_p.R107L|NARFL_uc010uuq.1_Missense_Mutation_p.G134C NM_022493 NP_071938 Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 325 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding 0 Hepatocellular(780;0.0218) GGCCGCGTGCCGGAACACGTG 0.662 NA 3 3 0.004672 0.00495841 0.004672 1 0 ZP2 7783 broad.mit.edu 37 16 21213575 21213575 + Silent SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr16:21213575G>A uc002dii.2 - 11 1137 c.1137C>T c.(1135-1137)GAC>GAT p.D379D ZP2_uc010bwn.1_Silent_p.D418D NM_003460 NP_003451 Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 preproprotein 379 Extracellular (Potential).|ZP. binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(48;0.0573) AGACCTCGACGTCCATAAACC 0.512 NA 4 40 0 0 0.000602 0 0 ZNF423 23090 broad.mit.edu 37 16 49671380 49671380 + Missense_Mutation SNP C C G TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr16:49671380C>G uc002efs.2 - 5 1981 c.1683G>C c.(1681-1683)GAG>GAC p.E561D ZNF423_uc010vgn.1_Missense_Mutation_p.E444D NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 561 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) AGGAATAGACCTCCATGAAGG 0.577 NA 29 95 0 0 0.012213 0 0 CDH8 1006 broad.mit.edu 37 16 61761098 61761098 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr16:61761098C>A uc002eog.1 - 9 1688 c.1436G>T c.(1435-1437)CGA>CTA p.R479L CDH8_uc002eoh.2_Missense_Mutation_p.R248L NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 479 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) AACAGGTACTCGTGATATCTG 0.408 NA 29 124 5.91797e-21 9.47559e-21 0.012213 1 0 HAS3 3038 broad.mit.edu 37 16 69148656 69148656 + Silent SNP A A T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr16:69148656A>T uc010cfh.2 + 4 1373 c.1149A>T c.(1147-1149)TCA>TCT p.S383S HAS3_uc002ewk.2_Intron|HAS3_uc002ewl.2_Silent_p.S383S NM_005329 NP_005320 O00219 HAS3_HUMAN hyaluronan synthase 3 isoform a 383 Helical; Name=3; (Potential). carbohydrate metabolic process integral to plasma membrane hyaluronan synthase activity 0 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.0694) CCTACGAGTCAGTGGTCACGG 0.547 NA 58 130 0 0 0.01441 0 0 NFAT5 10725 broad.mit.edu 37 16 69726307 69726307 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr16:69726307G>T uc002exm.1 + 12 3733 c.2525G>T c.(2524-2526)AGC>ATC p.S842I NFAT5_uc002exi.2_Missense_Mutation_p.S766I|NFAT5_uc002exj.1_Missense_Mutation_p.S766I|NFAT5_uc002exk.1_Missense_Mutation_p.S766I|NFAT5_uc002exl.1_Missense_Mutation_p.S860I|NFAT5_uc002exn.1_Missense_Mutation_p.S859I|NFAT5_uc002exo.1_5'Flank NM_006599 NP_006590 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5 isoform c 842 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 AGTGGTGTAAGCCCTGGAATG 0.403 NA 59 150 1.20869e-33 2.09255e-33 0.01441 1 0 GAN 8139 broad.mit.edu 37 16 81410934 81410934 + Splice_Site SNP G G C TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr16:81410934G>C uc002fgo.2 + 10 1760 c.1612_splice c.e10+1 p.G538_splice NM_022041 NP_071324 Q9H2C0 GAN_HUMAN gigaxonin cell death cytoplasm|neurofilament protein binding ovary(2) 2 Colorectal(91;0.153) CTTGATACAGGTAAGAGTGTT 0.408 GBM(106;1239 1507 7582 9741 33976) NA 45 308 0 0 0.011902 0 0 ZNF778 197320 broad.mit.edu 37 16 89294225 89294225 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr16:89294225G>T uc002fmv.2 + 6 1784 c.1445G>T c.(1444-1446)TGT>TTT p.C482F ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Missense_Mutation_p.C440F|ZNF778_uc010vpg.1_Missense_Mutation_p.C245F NM_182531 NP_872337 Q96MU6 ZN778_HUMAN zinc finger protein 778 482 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0269) TGTAAGCAGTGTGGCAAAGCC 0.493 NA 12 66 9.05144e-12 1.22904e-11 0.001855 1 0 C17orf85 55421 broad.mit.edu 37 17 3721736 3721736 + Silent SNP G G C TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr17:3721736G>C uc010ckl.1 - 10 1154 c.1131C>G c.(1129-1131)CTC>CTG p.L377L C17orf85_uc002fwr.2_Silent_p.L87L|C17orf85_uc002fwq.2_Silent_p.L97L NM_001114118 NP_001107590 Q53F19 CQ085_HUMAN ELG protein isoform a 377 nucleotide binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) TGAGAGCCGGGAGCTCCTCGT 0.418 NA 27 104 0 0 0.010818 0 0 C17orf74 201243 broad.mit.edu 37 17 7330250 7330250 + Missense_Mutation SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr17:7330250C>T uc002ggw.2 + 3 1013 c.940C>T c.(940-942)CGG>TGG p.R314W FGF11_uc010vtw.1_Intron NM_175734 NP_783861 Q0P670 CQ074_HUMAN hypothetical protein LOC201243 314 integral to membrane 0 Prostate(122;0.157) CTGGGATCAGCGGCGTCGTGG 0.706 NA 11 47 0 0 0.003163 0 0 MYH4 4622 broad.mit.edu 37 17 10355258 10355258 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr17:10355258C>A uc002gmn.2 - 27 3849 c.3738G>T c.(3736-3738)AAG>AAT p.K1246N uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1246 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 TAATGAAGACCTTGGCTTTGG 0.388 NA 37 117 6.04917e-29 1.02172e-28 0.006999 1 0 DNAH9 1770 broad.mit.edu 37 17 11593391 11593391 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr17:11593391G>T uc002gne.2 + 20 4320 c.4252G>T c.(4252-4254)GAT>TAT p.D1418Y DNAH9_uc010coo.2_Missense_Mutation_p.D712Y NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1418 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CCACTATGAGGATGAGGTCCG 0.562 NA 11 52 5.16669e-11 6.84771e-11 0.010729 1 0 RHBDL3 162494 broad.mit.edu 37 17 30611731 30611731 + Silent SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr17:30611731G>A uc002hhe.1 + 3 203 c.189G>A c.(187-189)CTG>CTA p.L63L RHBDL3_uc010csw.1_Silent_p.L55L|RHBDL3_uc010csx.1_Silent_p.L63L|RHBDL3_uc010csy.1_Intron|RHBDL3_uc002hhf.1_Intron NM_138328 NP_612201 P58872 RHBL3_HUMAN rhomboid protease 3 63 EF-hand 1. proteolysis integral to membrane calcium ion binding|serine-type endopeptidase activity ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) GGAGTCTTCTGGAGAGCCACA 0.587 NA 17 59 0 0 0.004007 0 0 MYO19 80179 broad.mit.edu 37 17 34883509 34883509 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr17:34883509C>A uc010wcy.1 - 6 1165 c.173G>T c.(172-174)CGG>CTG p.R58L MYO19_uc002hmw.2_Missense_Mutation_p.R58L|MYO19_uc010cuu.2_RNA|MYO19_uc010wcz.1_RNA|MYO19_uc010wda.1_Intron|MYO19_uc002hmx.2_Missense_Mutation_p.R58L NM_001163735 NP_001157207 Q96H55 MYO19_HUMAN myosin XIX isoform 2 58 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity ovary(1) 1 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TGCCATGTACCGGGCCTGCAG 0.517 NA 11 37 6.40141e-05 7.17891e-05 0.010729 1 0 MRM1 79922 broad.mit.edu 37 17 34964761 34964761 + Silent SNP A A G TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr17:34964761A>G uc002hne.2 + 5 1187 c.972A>G c.(970-972)CAA>CAG p.Q324Q MRM1_uc002hnf.2_Silent_p.Q129Q NM_024864 NP_079140 Q6IN84 MRM1_HUMAN mitochondrial rRNA methyltransferase 1 homolog 324 RNA processing mitochondrion RNA binding|RNA methyltransferase activity 0 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) AAGACCCCCAAGAACCCTCAG 0.567 NA 63 247 0 0 0.01441 0 0 MLX 6945 broad.mit.edu 37 17 40720536 40720536 + Missense_Mutation SNP A A G TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr17:40720536A>G uc002iag.2 + 3 355 c.290A>G c.(289-291)AAT>AGT p.N97S MLX_uc002iaf.2_Missense_Mutation_p.N43S|MLX_uc002iah.2_Intron NM_170607 NP_733752 Q9UH92 MLX_HUMAN transcription factor-like protein 4 isoform 97 Helix-loop-helix motif. energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process cytoplasm|nucleus DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding 0 all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148) BRCA - Breast invasive adenocarcinoma(366;0.129) TCCAGAGCTAATAGCATCGGT 0.547 GBM(121;657 1601 4665 24731 34640) NA 68 254 0 0 0.01441 0 0 PRKCA 5578 broad.mit.edu 37 17 64785039 64785040 + Missense_Mutation DNP GG GG TT TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr17:64785039_64785040GG>TT uc002jfp.1 + 16 1840_1841 c.1796_1797GG>TT c.(1795-1797)AGG>ATT p.R599I NM_002737 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha 599 AGC-kinase C-terminal. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) TTCTTCCGGAGGATCGACTGGG 0.564 NA 28 103 0 0 0.004672 0 0 UNC13D 201294 broad.mit.edu 37 17 73836332 73836332 + Missense_Mutation SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr17:73836332G>A uc002jpp.2 - 10 1212 c.832C>T c.(832-834)CTC>TTC p.L278F UNC13D_uc010wsk.1_Missense_Mutation_p.L278F|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_Missense_Mutation_p.L75F NM_199242 NP_954712 Q70J99 UN13D_HUMAN unc-13 homolog D 278 Interaction with RAB27A. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding upper_aerodigestive_tract(1)|skin(1) 2 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) TGGAACTGGAGGTGGCACTGG 0.672 NA Familial_Hemophagocytic_Lymphohistiocytosis 8 44 0 0 0.013537 0 0 TRIM65 201292 broad.mit.edu 37 17 73887248 73887248 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr17:73887248C>A uc002jpx.2 - 6 1202 c.1166G>T c.(1165-1167)CGC>CTC p.R389L NM_173547 NP_775818 Q6PJ69 TRI65_HUMAN tripartite motif-containing 65 389 B30.2/SPRY. intracellular zinc ion binding 0 Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) GTCTGACGCGCGCACCTCCCA 0.687 NA 15 82 0.00400662 0.0042686 0.004007 1 0 RNF165 494470 broad.mit.edu 37 18 44027602 44027602 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr18:44027602C>A uc002lcb.1 + 4 613 c.562C>A c.(562-564)CTA>ATA p.L188I RNF165_uc002lby.1_Missense_Mutation_p.L121I|RNF165_uc010dnn.1_5'UTR NM_152470 NP_689683 Q6ZSG1 RN165_HUMAN ring finger protein 165 188 zinc ion binding 0 READ - Rectum adenocarcinoma(1;0.0873) TCAGCATTACCTAGCCACTCC 0.547 NA 42 104 2.35958e-20 3.69268e-20 0.009718 1 0 ABCA7 10347 broad.mit.edu 37 19 1046335 1046335 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr19:1046335C>A uc002lqw.3 + 13 1783 c.1552C>A c.(1552-1554)CTC>ATC p.L518I ABCA7_uc010dsb.1_Missense_Mutation_p.L380I NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A, member 7 518 Extracellular (By similarity). phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity pancreas(7)|ovary(1)|central_nervous_system(1) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGTCCGCGTGCTCAGCGGCGC 0.701 NA 38 363 1.7489e-18 2.61863e-18 0.011902 1 0 CELF5 60680 broad.mit.edu 37 19 3281249 3281249 + Missense_Mutation SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr19:3281249C>T uc002lxm.2 + 6 693 c.656C>T c.(655-657)ACG>ATG p.T219M CELF5_uc002lxl.1_Missense_Mutation_p.T219M|CELF5_uc010dtj.1_Missense_Mutation_p.T219M|CELF5_uc010xhg.1_Missense_Mutation_p.T105M|CELF5_uc002lxn.2_RNA NM_021938 NP_068757 Q8N6W0 CELF5_HUMAN bruno-like 5, RNA binding protein 219 mRNA processing cytoplasm|nucleus nucleotide binding|RNA binding ovary(2) 2 AAGGAGCGGACGCTCCGGCGC 0.677 NA 11 103 0 0 0.006122 0 0 TMIGD2 126259 broad.mit.edu 37 19 4298087 4298087 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr19:4298087G>T uc002lzx.1 - 2 348 c.302C>A c.(301-303)CCT>CAT p.P101H TMIGD2_uc010dtv.1_Missense_Mutation_p.P101H NM_144615 NP_653216 Q96BF3 TMIG2_HUMAN transmembrane and immunoglobulin domain 101 Extracellular (Potential).|Ig-like. integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) GAGGCTCACAGGGTCCAGCTG 0.642 NA 38 136 6.2361e-21 9.92759e-21 0.007835 1 0 MUC16 94025 broad.mit.edu 37 19 9076674 9076674 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr19:9076674G>T uc002mkp.2 - 3 10976 c.10772C>A c.(10771-10773)TCC>TAC p.S3591Y NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3592 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GACAGTCCAGGAATCTGATGC 0.483 NA 22 135 1.85244e-09 2.33239e-09 0.00333 1 0 MUC16 94025 broad.mit.edu 37 19 9077673 9077673 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr19:9077673C>A uc002mkp.2 - 3 9977 c.9773G>T c.(9772-9774)AGC>ATC p.S3258I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3259 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTGAGAGATGCTGGTGCTGCC 0.527 NA 40 124 1.30998e-17 1.93013e-17 0.005524 1 0 EMR2 30817 broad.mit.edu 37 19 14857057 14857057 + Missense_Mutation SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr19:14857057G>A uc002mzp.1 - 18 2626 c.2170C>T c.(2170-2172)CTC>TTC p.L724F EMR2_uc010dzs.1_Missense_Mutation_p.L183F|EMR2_uc010xnw.1_Missense_Mutation_p.L666F|EMR2_uc002mzo.1_Missense_Mutation_p.L713F|EMR2_uc002mzq.1_Missense_Mutation_p.L664F|EMR2_uc002mzr.1_Missense_Mutation_p.L675F|EMR2_uc002mzs.1_Missense_Mutation_p.L582F|EMR2_uc002mzt.1_Missense_Mutation_p.L620F|EMR2_uc002mzu.1_Missense_Mutation_p.L631F|EMR2_uc010xnx.1_RNA NM_013447 NP_038475 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone 724 Cytoplasmic (Potential). cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity lung(2)|ovary(1)|skin(1) 4 GTGTTCCGGAGGGTGGACACT 0.478 NA 80 292 0 0 0.01441 0 0 OR10H1 26539 broad.mit.edu 37 19 15918047 15918047 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr19:15918047C>A uc002nbq.2 - 1 890 c.801G>T c.(799-801)CAG>CAT p.Q267H NM_013940 NP_039228 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, 267 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTTCCAGAGACTGGGGACTTT 0.562 NA 34 82 1.26612e-14 1.81717e-14 0.003271 1 0 SLC5A5 6528 broad.mit.edu 37 19 17994525 17994525 + Silent SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr19:17994525C>T uc002nhr.3 + 11 1625 c.1278C>T c.(1276-1278)CCC>CCT p.P426P NM_000453 NP_000444 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium iodide 426 Helical; (Potential). cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity skin(2)|ovary(1)|central_nervous_system(1) 4 TCAGCGGCCCCCTGCTGGGAG 0.547 Melanoma(65;1008 1708 7910 46650) NA 17 89 0 0 0.008871 0 0 ARRDC2 27106 broad.mit.edu 37 19 18121164 18121164 + Missense_Mutation SNP G G C TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr19:18121164G>C uc002nhv.2 + 6 1152 c.1009G>C c.(1009-1011)GAG>CAG p.E337Q ARRDC2_uc002nhu.2_Missense_Mutation_p.E332Q NM_015683 NP_056498 Q8TBH0 ARRD2_HUMAN arrestin domain containing 2 isoform 1 337 pancreas(1) 1 GGAGCGGCCTGAGGGTAAGCT 0.647 NA 3 57 0 0 0.004672 0 0 CRTC1 23373 broad.mit.edu 37 19 18888001 18888001 + Missense_Mutation SNP A A T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr19:18888001A>T uc002nkb.3 + 14 1802 c.1714A>T c.(1714-1716)AGC>TGC p.S572C CRTC1_uc010ebv.2_Missense_Mutation_p.S588C|CRTC1_uc010ebw.2_Missense_Mutation_p.S408C|CRTC1_uc002nkc.3_Missense_Mutation_p.S270C NM_015321 NP_056136 Q6UUV9 CRTC1_HUMAN mucoepidermoid carcinoma translocated 1 isoform 572 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding p.S572fs*4(1) CRTC1/MAML2(516) salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1) 519 GTCCCCCCCCAGCCTCTCTAA 0.627 NA 21 71 0 0 0.00278 0 0 ZNF536 9745 broad.mit.edu 37 19 31025803 31025803 + Silent SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr19:31025803G>T uc002nsu.1 + 3 2358 c.2220G>T c.(2218-2220)CTG>CTT p.L740L ZNF536_uc010edd.1_Silent_p.L740L NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 740 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) AACCAGCGCTGCTTCGCGACA 0.567 NA 64 204 1.31726e-23 2.17191e-23 0.01441 1 0 LSM14A 26065 broad.mit.edu 37 19 34706112 34706112 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr19:34706112G>T uc002nvb.3 + 5 818 c.622G>T c.(622-624)GCT>TCT p.A208S LSM14A_uc002nva.3_Missense_Mutation_p.A208S|LSM14A_uc010xru.1_Missense_Mutation_p.A167S|LSM14A_uc002nvc.3_Missense_Mutation_p.A14S NM_001114093 NP_001107565 Q8ND56 LS14A_HUMAN LSM14 homolog A isoform a 208 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule skin(1) 1 Esophageal squamous(110;0.162) CCACTTACCTGCTCCAGCAGC 0.527 NA 20 59 8.04996e-18 1.19243e-17 0.012319 1 0 ZFP14 57677 broad.mit.edu 37 19 36832235 36832235 + Missense_Mutation SNP C C G TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr19:36832235C>G uc002odx.1 - 4 586 c.493G>C c.(493-495)GTT>CTT p.V165L ZFP14_uc010xtd.1_Missense_Mutation_p.V166L|ZFP14_uc010eex.1_Missense_Mutation_p.V165L NM_020917 NP_065968 Q9HCL3 ZFP14_HUMAN zinc finger protein 14-like 165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.162) CCATTATGAACGATCTGATAC 0.383 NA 50 190 0 0 0.01441 0 0 PSG3 5671 broad.mit.edu 37 19 43233410 43233410 + Missense_Mutation SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr19:43233410C>T uc002oue.2 - 5 1240 c.1108G>A c.(1108-1110)GGG>AGG p.G370R PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.G370R|PSG3_uc010eil.2_Missense_Mutation_p.G392R NM_021016 NP_066296 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 370 Ig-like C2-type 3. Missing (in Ref. 9). defense response|female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) TGAAACTTCCCATTAATTGTC 0.443 NA 80 309 0 0 0.01441 0 0 RTN2 6253 broad.mit.edu 37 19 45992753 45992753 + Silent SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr19:45992753C>T uc002pcb.2 - 6 1320 c.1092G>A c.(1090-1092)CTG>CTA p.L364L RTN2_uc002pcc.2_Silent_p.L291L|RTN2_uc002pcd.2_RNA NM_005619 NP_005610 O75298 RTN2_HUMAN reticulon 2 isoform A 364 Reticulon. integral to endoplasmic reticulum membrane signal transducer activity ovary(3) 3 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) GGGAGACCATCAGGCCTGTGA 0.617 NA 9 15 0 0 0.004482 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51628373 51628373 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr19:51628373C>A uc002pvu.2 + 1 209 c.142C>A c.(142-144)CAT>AAT p.H48N SIGLEC9_uc010yct.1_Missense_Mutation_p.H48N NM_014441 NP_055256 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 precursor 48 Extracellular (Potential).|Ig-like V-type. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) CTACCCCTCGCATGGCTGGAT 0.582 NA 18 59 1.9806e-07 2.375e-07 0.014323 1 0 SIGLEC12 89858 broad.mit.edu 37 19 51994930 51994930 + Missense_Mutation SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr19:51994930C>T uc002pwx.1 - 8 1809 c.1753G>A c.(1753-1755)GGC>AGC p.G585S SIGLEC12_uc002pww.1_Missense_Mutation_p.G467S|SIGLEC12_uc010eoy.1_Missense_Mutation_p.G312S NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN sialic acid binding immunoglobulin-like 585 Cytoplasmic (Potential). cell adhesion integral to membrane sugar binding ovary(3)|skin(2) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TACTCATAGCCGATGGCCTCC 0.582 NA 52 107 0 0 0.01441 0 0 ZNF880 400713 broad.mit.edu 37 19 52876489 52876489 + Silent SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr19:52876489G>T uc002pzc.2 + 2 187 c.138G>T c.(136-138)CTG>CTT p.L46L ZNF880_uc002pzb.3_RNA NM_001145434 NP_001138906 Q6PDB4 ZN880_HUMAN zinc finger protein LOC400713 46 KRAB. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 TGGTCTTTCTGGGTGAGGATA 0.468 NA 11 76 9.31168e-06 1.06584e-05 0.001855 1 0 ZNF665 79788 broad.mit.edu 37 19 53678823 53678823 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr19:53678823C>A uc010eqm.1 - 3 117 c.17G>T c.(16-18)GGA>GTA p.G6V NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN zinc finger protein 665 Error:Variant_position_missing_in_Q9H7R5_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0196) TGTCAACTGTCCCTAAAATGA 0.418 NA 26 121 1.39806e-14 1.99619e-14 0.008361 1 0 CCDC106 29903 broad.mit.edu 37 19 56160839 56160839 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr19:56160839G>T uc002qlr.2 + 4 937 c.202G>T c.(202-204)GCT>TCT p.A68S CCDC106_uc002qls.2_Missense_Mutation_p.A68S NM_013301 NP_037433 Q9BWC9 CC106_HUMAN coiled-coil domain containing 106 68 Potential. nucleus 0 Colorectal(82;0.00403)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) GCTGCACATGGCTCTGGAGAG 0.622 NA 17 52 9.16793e-09 1.11873e-08 0.00499 1 0 NLRP4 147945 broad.mit.edu 37 19 56363727 56363727 + Splice_Site SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr19:56363727G>T uc002qmd.3 + 2 702 c.280_splice c.e2+1 p.G94_splice NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GAGAGAACAGGTGAGGGAGTC 0.438 NA 17 88 6.94344e-10 8.78235e-10 0.006122 1 0 ZNF418 147686 broad.mit.edu 37 19 58439201 58439201 + Silent SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr19:58439201C>T uc002qqs.1 - 4 640 c.348G>A c.(346-348)GGG>GGA p.G116G ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Silent_p.G31G NM_133460 NP_597717 Q8TF45 ZN418_HUMAN zinc finger protein 418 116 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 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;0.0158) ACAATTTATTCCCCCATGCCT 0.468 NA 19 222 0 0 0.007413 0 0 ZNF512 84450 broad.mit.edu 37 2 27844189 27844189 + Missense_Mutation SNP G G C TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr2:27844189G>C uc002rla.2 + 14 1652 c.1565G>C c.(1564-1566)AGA>ACA p.R522T ZNF512_uc010ylv.1_Missense_Mutation_p.R443T|ZNF512_uc010ylw.1_Missense_Mutation_p.R493T|ZNF512_uc002rlb.2_Missense_Mutation_p.R443T|ZNF512_uc010ylx.1_Missense_Mutation_p.R443T|ZNF512_uc002rlc.2_Missense_Mutation_p.R443T|ZNF512_uc010yly.1_Intron|ZNF512_uc010ylz.1_Missense_Mutation_p.R415T NM_032434 NP_115810 Q96ME7 ZN512_HUMAN zinc finger protein 512 522 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) CTGAGTCTTAGAGTAGGGAAG 0.532 NA 3 102 0 0 0.004672 0 0 LCLAT1 253558 broad.mit.edu 37 2 30863299 30863299 + Missense_Mutation SNP G G C TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr2:30863299G>C uc002rnj.2 + 7 1268 c.1059G>C c.(1057-1059)TGG>TGC p.W353C LCLAT1_uc010ymp.1_Missense_Mutation_p.W191C|LCLAT1_uc002rnl.2_Missense_Mutation_p.W315C|LCLAT1_uc010ymq.1_Missense_Mutation_p.W315C NM_182551 NP_872357 Q6UWP7 LCLT1_HUMAN lysocardiolipin acyltransferase 1 isoform 1 353 Helical; (Potential). multicellular organismal development|phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity ovary(2) 2 TACTGTATTGGACCCTGTTCA 0.403 NA 51 158 0 0 0.01441 0 0 THADA 63892 broad.mit.edu 37 2 43801837 43801837 + Missense_Mutation SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr2:43801837G>A uc002rsw.3 - 11 1719 c.1367C>T c.(1366-1368)ACG>ATG p.T456M THADA_uc002rsx.3_Missense_Mutation_p.T456M|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.T166M|THADA_uc002rta.2_Missense_Mutation_p.T166M|THADA_uc002rtb.1_Missense_Mutation_p.T456M|THADA_uc002rtc.3_Missense_Mutation_p.T456M|THADA_uc002rtd.2_Missense_Mutation_p.T456M NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 456 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) ACCAAGGCACGTGTACTTTCC 0.418 NA 31 98 0 0 0.012213 0 0 LRPPRC 10128 broad.mit.edu 37 2 44204416 44204416 + Splice_Site SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr2:44204416C>A uc002rtr.2 - 4 528 c.470_splice c.e4-1 p.G157_splice LRPPRC_uc010yob.1_Splice_Site_p.G57_splice|LRPPRC_uc010faw.1_Splice_Site_p.G131_splice NM_133259 NP_573566 P42704 LPPRC_HUMAN leucine-rich PPR motif-containing protein mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding ovary(2)|skin(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TACACAGCACCTACAAATGAA 0.289 NA 4 20 3.59834e-05 4.05178e-05 0.001168 1 0 LRRTM4 80059 broad.mit.edu 37 2 77746912 77746912 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr2:77746912G>T uc002snr.2 - 3 498 c.83C>A c.(82-84)ACG>AAG p.T28K LRRTM4_uc002snq.2_Missense_Mutation_p.T28K|LRRTM4_uc002sns.2_Missense_Mutation_p.T28K|LRRTM4_uc002snt.2_Missense_Mutation_p.T29K NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 28 integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) CTGAGCACCCGTGAGCATAAC 0.443 NA 12 31 5.16669e-11 6.84771e-11 0.010729 1 0 RETSAT 54884 broad.mit.edu 37 2 85571154 85571154 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr2:85571154C>A uc002spd.2 - 9 1692 c.1501G>T c.(1501-1503)GTC>TTC p.V501F RETSAT_uc010fge.2_Intron|RETSAT_uc010ysm.1_Missense_Mutation_p.V440F|RETSAT_uc010fgf.2_Missense_Mutation_p.V292F NM_017750 NP_060220 Q6NUM9 RETST_HUMAN all-trans-13,14-dihydroretinol saturase 501 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity ovary(2) 2 Vitamin A(DB00162) AGTTTCAGGACCACTGACATA 0.537 NA 43 170 8.00217e-19 1.21791e-18 0.01441 1 0 FAM123C 205147 broad.mit.edu 37 2 131519874 131519874 + Missense_Mutation SNP G G C TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr2:131519874G>C uc002trw.2 + 2 419 c.229G>C c.(229-231)GGA>CGA p.G77R FAM123C_uc010fmv.2_Missense_Mutation_p.G77R|FAM123C_uc010fms.1_Missense_Mutation_p.G77R|FAM123C_uc010fmt.1_Missense_Mutation_p.G77R|FAM123C_uc010fmu.1_Missense_Mutation_p.G77R NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 77 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) CCCCAAAGGGGGACCCGCAGC 0.647 NA 3 18 0 0 0.009096 0 0 LCT 3938 broad.mit.edu 37 2 136566318 136566318 + Missense_Mutation SNP G G C rs148317168 TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr2:136566318G>C uc002tuu.1 - 8 3610 c.3599C>G c.(3598-3600)ACG>AGG p.T1200R NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1200 3.|Extracellular (Potential).|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) GACGTCGGCCGTCGCCCTGAT 0.557 NA 39 174 0 0 0.007835 0 0 LRP1B 53353 broad.mit.edu 37 2 141751656 141751656 + Missense_Mutation SNP C C G TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr2:141751656C>G uc002tvj.1 - 16 3524 c.2552G>C c.(2551-2553)CGC>CCC p.R851P LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 851 Extracellular (Potential).|LDL-receptor class A 3. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTTTTTGCAGCGAAACTCTCC 0.438 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 19 90 0 0 0.010504 0 0 ORC4L 5000 broad.mit.edu 37 2 148715893 148715893 + Nonsense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr2:148715893C>A uc002twi.2 - 6 496 c.361G>T c.(361-363)GAA>TAA p.E121* ORC4L_uc002twj.2_Nonsense_Mutation_p.E121*|ORC4L_uc010zbo.1_Nonsense_Mutation_p.E47*|ORC4L_uc010zbp.1_5'UTR|ORC4L_uc010fnr.2_Nonsense_Mutation_p.E121*|ORC4L_uc010zbq.1_Nonsense_Mutation_p.E37*|ORC4L_uc002twk.2_Nonsense_Mutation_p.E121*|ORC4L_uc010zbr.1_Nonsense_Mutation_p.E121* NM_181741 NP_859525 O43929 ORC4_HUMAN origin recognition complex subunit 4 121 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding 0 BRCA - Breast invasive adenocarcinoma(221;0.0963)|COAD - Colon adenocarcinoma(177;0.203) ACTACATTTTCCAGATTTAAC 0.254 NA 6 21 8.12818e-05 9.07866e-05 0.001984 1 0 GALNT13 114805 broad.mit.edu 37 2 154801038 154801038 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr2:154801038G>T uc002tyr.3 + 3 595 c.28G>T c.(28-30)GTT>TTT p.V10F GALNT13_uc002tyt.3_Missense_Mutation_p.V10F NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 10 Helical; Signal-anchor for type II membrane protein; (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 CTGCAAGGTGGTTCTAGCCAC 0.413 NA 34 121 4.44401e-20 6.83884e-20 0.010771 1 0 CHRNA1 1134 broad.mit.edu 37 2 175624091 175624091 + Nonsense_Mutation SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr2:175624091G>A uc002ujd.2 - 3 280 c.202C>T c.(202-204)CAG>TAG p.Q68* uc002uiw.2_Intron|CHRNA1_uc002uje.2_Nonsense_Mutation_p.Q68*|CHRNA1_uc002ujf.3_Nonsense_Mutation_p.Q68* NM_001039523 NP_001034612 P02708 ACHA_HUMAN nicotinic cholinergic receptor alpha 1 isoform a 68 Extracellular. muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity ovary(2)|central_nervous_system(1)|skin(1) 4 GTCACGATCTGATTTACTTCA 0.473 NA 30 126 0 0 0.010818 0 0 TTC30B 150737 broad.mit.edu 37 2 178417000 178417000 + Silent SNP G G C TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr2:178417000G>C uc002uln.2 - 1 525 c.492C>G c.(490-492)CTC>CTG p.L164L TTC30B_uc010zfc.1_5'UTR NM_152517 NP_689730 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B 164 TPR 3. cell projection organization cilium binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) CCTCCTTGTAGAGCAAACAAC 0.582 NA 13 444 0 0 0.001855 0 0 TTN 7273 broad.mit.edu 37 2 179650354 179650354 + Missense_Mutation SNP C C G TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr2:179650354C>G uc010zfg.1 - 15 2710 c.2486G>C c.(2485-2487)GGA>GCA p.G829A TTN_uc010zfh.1_Missense_Mutation_p.G783A|TTN_uc010zfi.1_Missense_Mutation_p.G783A|TTN_uc010zfj.1_Missense_Mutation_p.G783A|TTN_uc002unb.2_Missense_Mutation_p.G829A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 829 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TACCTCATATCCATGTTCTGT 0.413 NA 19 60 0 0 0.008871 0 0 ICA1L 130026 broad.mit.edu 37 2 203686132 203686132 + Missense_Mutation SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr2:203686132C>T uc002uzh.1 - 5 472 c.308G>A c.(307-309)GGC>GAC p.G103D ICA1L_uc002uzi.1_Missense_Mutation_p.G103D|ICA1L_uc002uzj.2_Missense_Mutation_p.G103D NM_138468 NP_612477 Q8NDH6 ICA1L_HUMAN islet cell autoantigen 1,69kDa-like isoform 1 103 AH. 0 CATCATTTTGCCAGCTTGAGT 0.383 NA 31 110 0 0 0.013726 0 0 CPS1 1373 broad.mit.edu 37 2 211459298 211459298 + Missense_Mutation SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr2:211459298C>T uc002vee.3 + 12 1363 c.1231C>T c.(1231-1233)CCG>TCG p.P411S CPS1_uc010fur.2_Missense_Mutation_p.P417S|CPS1_uc010fus.2_5'UTR NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 411 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) ATCAGTCTTACCGAAGCCAGC 0.363 NA 7 32 0 0 0.006214 0 0 VIL1 7429 broad.mit.edu 37 2 219296603 219296603 + Missense_Mutation SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr2:219296603G>A uc002via.2 + 11 1191 c.1126G>A c.(1126-1128)GAT>AAT p.D376N VIL1_uc010zke.1_Missense_Mutation_p.D65N|VIL1_uc002vib.2_Missense_Mutation_p.D376N NM_007127 NP_009058 P09327 VILI_HUMAN villin 1 376 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity ovary(1) 1 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGTGAAGTTCGATGCCACATC 0.488 NA 9 30 0 0 0.004482 0 0 NGEF 25791 broad.mit.edu 37 2 233785096 233785096 + Silent SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr2:233785096G>A uc002vts.2 - 5 974 c.726C>T c.(724-726)CTC>CTT p.L242L NGEF_uc010fyg.1_Silent_p.L150L|NGEF_uc002vtt.2_Silent_p.L150L NM_019850 NP_062824 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 242 Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3)|skin(1) 7 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) GGGGGTTACTGAGCAGGCAGA 0.517 NA 6 90 0 0 0.001168 0 0 CYP24A1 1591 broad.mit.edu 37 20 52781004 52781004 + Silent SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr20:52781004G>T uc002xwv.2 - 6 1229 c.831C>A c.(829-831)ACC>ACA p.T277T CYP24A1_uc002xwu.1_Silent_p.T135T|CYP24A1_uc002xww.2_Silent_p.T277T NM_000782 NP_000773 Q07973 CP24A_HUMAN cytochrome P450 family 24 subfamily A 277 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) ATTTGAAAATGGTGTCCCAGG 0.567 NA 40 131 2.05212e-20 3.22975e-20 0.005524 1 0 TAF4 6874 broad.mit.edu 37 20 60575636 60575636 + Silent SNP C C A rs149271691 byFrequency TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr20:60575636C>A uc002ybs.2 - 10 2628 c.2628G>T c.(2626-2628)GCG>GCT p.A876A NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 876 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) TCTGCAAAGGCGCTTGGAGGA 0.458 NA 41 179 5.20006e-24 8.62525e-24 0.011902 1 0 TMPRSS15 5651 broad.mit.edu 37 21 19713778 19713778 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr21:19713778G>T uc002ykw.2 - 13 1547 c.1516C>A c.(1516-1518)CTT>ATT p.L506I NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 506 Extracellular (Potential). proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 TCTGGATAAAGACTCCCATTG 0.358 NA 22 91 9.95505e-16 1.44374e-15 0.014323 1 0 GRIK1 2897 broad.mit.edu 37 21 31311771 31311771 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr21:31311771G>T uc002yno.1 - 1 512 c.48C>A c.(46-48)GAC>GAA p.D16E GRIK1_uc002ynn.2_Missense_Mutation_p.D16E|GRIK1_uc011acs.1_Missense_Mutation_p.D16E|GRIK1_uc011act.1_Missense_Mutation_p.D16E|GRIK1_uc010glq.1_Missense_Mutation_p.D16E|GRIK1_uc002ynr.2_Missense_Mutation_p.D16E NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 16 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) CCCAGCTGGTGTCCCTGGTCC 0.622 NA 10 16 0.000442599 0.000477043 0.006214 1 0 KRTAP10-4 386672 broad.mit.edu 37 21 45993646 45993646 + Missense_Mutation SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr21:45993646G>A uc002zfk.1 + 1 41 c.11G>A c.(10-12)TGC>TAC p.C4Y C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198687 NP_941960 P60372 KR104_HUMAN keratin associated protein 10-4 4 keratin filament 0 ATGTCCGTCTGCTCCAGCGAC 0.632 NA 21 86 0 0 0.012319 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072423 17072423 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr22:17072423G>T uc002zlp.1 - 1 1278 c.1018C>A c.(1018-1020)CCT>ACT p.P340T NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 340 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CTCTGGGGAGGGAGCAGACGA 0.552 NA 17 184 6.49762e-13 8.95443e-13 0.006122 1 0 MICAL3 57553 broad.mit.edu 37 22 18301821 18301821 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr22:18301821C>A uc002zng.3 - 26 3959 c.3606G>T c.(3604-3606)TTG>TTT p.L1202F MICAL3_uc011agl.1_Missense_Mutation_p.L1118F NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 1202 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) CTTTGGGGAGCAAAGGCTCAG 0.602 NA 6 29 3.59834e-05 4.05178e-05 0.001168 1 0 SNRPD3 6634 broad.mit.edu 37 22 24964111 24964111 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr22:24964111G>T uc003aam.1 + 3 726 c.286G>T c.(286-288)GGC>TGC p.G96C SNRPD3_uc011aju.1_Missense_Mutation_p.G96C NM_004175 NP_004166 P62318 SMD3_HUMAN small nuclear ribonucleoprotein polypeptide D3 96 Arg/Lys-rich (basic). histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP enzyme binding|histone pre-mRNA DCP binding ovary(1) 1 CTCAGGGGCTGGCCGAGGAAA 0.458 NA 16 50 2.94398e-08 3.54558e-08 0.007413 1 0 LOC644165 644165 broad.mit.edu 37 22 25045888 25045888 + Silent SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr22:25045888C>T uc011ajv.1 + 6 969 c.612C>T c.(610-612)GCC>GCT p.A204A POM121L10P_uc003aaz.3_Intron|POM121L10P_uc003abc.2_Intron NR_024494 Homo sapiens cDNA FLJ57042 complete cds, moderately similar to Breakpoint cluster region protein (EC 2.7.11.1). 0 TGTCTTTGGCCCCACGCTGCT 0.607 NA 4 17 0 0 0.001168 0 0 HPS4 89781 broad.mit.edu 37 22 26860631 26860631 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr22:26860631C>A uc003acl.2 - 11 1624 c.965G>T c.(964-966)AGG>ATG p.R322M HPS4_uc003aci.2_Missense_Mutation_p.R317M|HPS4_uc003acj.2_Missense_Mutation_p.R186M|HPS4_uc003ack.2_Missense_Mutation_p.R113M|HPS4_uc003acn.2_Missense_Mutation_p.R168M|HPS4_uc010gvd.1_Missense_Mutation_p.R340M|HPS4_uc003ach.2_Missense_Mutation_p.R57M NM_022081 NP_071364 Q9NQG7 HPS4_HUMAN light ear protein isoform a 322 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity 0 GTTCTCCTTCCTGCCATCTGG 0.587 NA Hermansky-Pudlak_syndrome 21 87 2.44723e-14 3.47632e-14 0.004656 1 0 SSTR3 6753 broad.mit.edu 37 22 37602771 37602771 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr22:37602771C>A uc003ara.2 - 2 1134 c.1072G>T c.(1072-1074)GGG>TGG p.G358W SSTR3_uc003arb.2_Missense_Mutation_p.G358W NM_001051 NP_001042 P32745 SSR3_HUMAN somatostatin receptor 3 358 Cytoplasmic (Potential).|Glu-rich (acidic). G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity lung(1) 1 CTctcctccccatcctcctcc 0.602 NA 21 48 1.22574e-08 1.48916e-08 0.014323 1 0 KCNJ4 3761 broad.mit.edu 37 22 38822911 38822911 + Silent SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr22:38822911C>T uc003avs.1 - 2 1324 c.1227G>A c.(1225-1227)GAG>GAA p.E409E KCNJ4_uc003avt.1_Silent_p.E409E NM_004981 NP_004972 P48050 IRK4_HUMAN potassium inwardly-rectifying channel J4 409 Cytoplasmic (By similarity). synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding 0 Melanoma(58;0.0286) TGCCCGCCTCCTCCTTGGAAC 0.677 NA 15 89 0 0 0.007291 0 0 CPT1B 1375 broad.mit.edu 37 22 51012810 51012810 + Silent SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr22:51012810C>T uc003bmk.3 - 8 1086 c.924G>A c.(922-924)CAG>CAA p.Q308Q CPT1B_uc003bml.2_Silent_p.Q308Q|CPT1B_uc003bmm.2_Silent_p.Q308Q|CPT1B_uc003bmo.2_Silent_p.Q308Q|CPT1B_uc011asa.1_Silent_p.Q274Q|CPT1B_uc003bmn.2_Silent_p.Q308Q|CPT1B_uc011asb.1_Silent_p.Q308Q|CHKB-CPT1B_uc003bmp.2_Silent_p.Q105Q NM_001145137 NP_001138609 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B isoform a 308 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1) 2 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) TCCTCTCCATCTGGTAGGAGC 0.612 Esophageal Squamous(170;988 1933 25577 30295 48163) NA 6 33 0 0 0.001168 0 0 CLASP2 23122 broad.mit.edu 37 3 33586292 33586292 + Silent SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr3:33586292G>A uc003cfu.2 - 30 3549 c.3195C>T c.(3193-3195)ACC>ACT p.T1065T CLASP2_uc003cfs.2_Silent_p.T272T|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Silent_p.T665T NM_015097 NP_055912 B2RTR1 B2RTR1_HUMAN CLIP-associating protein 2 1074 ovary(3)|central_nervous_system(1) 4 TAAACTCTGGGGTATTGAGTT 0.373 NA 6 21 0 0 0.00308 0 0 ATRIP 84126 broad.mit.edu 37 3 48501913 48501913 + Missense_Mutation SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr3:48501913G>A uc003ctf.1 + 8 1492 c.1460G>A c.(1459-1461)TGC>TAC p.C487Y ATRIP_uc011bbj.1_Missense_Mutation_p.C360Y|ATRIP_uc003ctg.1_Missense_Mutation_p.C487Y|TREX1_uc010hjy.2_Intron NM_130384 NP_569055 Q8WXE1 ATRIP_HUMAN ATR interacting protein isoform 1 487 DNA damage checkpoint|DNA repair|DNA replication nucleoplasm protein binding|protein serine/threonine kinase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CACCTGGTGTGCCACAGCGGA 0.562 NA Other_conserved_DNA_damage_response_genes 31 113 0 0 0.013726 0 0 CELSR3 1951 broad.mit.edu 37 3 48685348 48685348 + Missense_Mutation SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr3:48685348C>T uc003cul.2 - 20 7336 c.7055G>A c.(7054-7056)CGA>CAA p.R2352Q CELSR3_uc003cuf.1_Missense_Mutation_p.R2422Q|CELSR3_uc010hkg.2_Missense_Mutation_p.R335Q NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 2352 Extracellular (Potential). homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ATCCTGGCCTCGAAAGAGGTT 0.632 NA 5 298 0 0 0.001984 0 0 TLR9 54106 broad.mit.edu 37 3 52257313 52257313 + Missense_Mutation SNP T T G TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr3:52257313T>G uc003dda.1 - 2 1653 c.1019A>C c.(1018-1020)AAC>ACC p.N340T TLR9_uc003ddb.2_Missense_Mutation_p.N437T NM_017442 NP_059138 Q9NR96 TLR9_HUMAN toll-like receptor 9 isoform A precursor 340 LRR 11.|Extracellular (Potential). defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity large_intestine(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) GAAGGACAGGTTAAGCTTGCG 0.557 NA 24 104 0 0 0.00632 0 0 PROS1 5627 broad.mit.edu 37 3 93624636 93624636 + Missense_Mutation SNP T T A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr3:93624636T>A uc003drb.3 - 6 934 c.593A>T c.(592-594)GAT>GTT p.D198V PROS1_uc010hoo.2_Missense_Mutation_p.D67V|PROS1_uc003dqz.3_Missense_Mutation_p.D67V NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 198 EGF-like 2; calcium-binding (Potential). leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) ACCTTTACAATCTTTCTTATT 0.303 NA 22 59 0 0 0.010504 0 0 EPHA6 285220 broad.mit.edu 37 3 96706352 96706352 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr3:96706352G>T uc010how.1 + 3 672 c.629G>T c.(628-630)TGG>TTG p.W210L EPHA6_uc003drp.1_Missense_Mutation_p.W210L NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 115 Ephrin-binding.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 AGCATCCCATGGGTCTTGGGG 0.398 NA 22 86 1.50039e-11 2.02736e-11 0.012319 1 0 SENP7 57337 broad.mit.edu 37 3 101047372 101047372 + Silent SNP T T A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr3:101047372T>A uc003dut.2 - 22 2925 c.2814A>T c.(2812-2814)CTA>CTT p.L938L SENP7_uc003duu.2_Silent_p.L873L|SENP7_uc003duv.2_Silent_p.L905L|SENP7_uc003duw.2_Silent_p.L872L|SENP7_uc003dux.2_Silent_p.L774L|SENP7_uc003dus.2_Silent_p.L126L NM_020654 NP_065705 Q9BQF6 SENP7_HUMAN sentrin/SUMO-specific protease 7 isoform 1 938 Protease. proteolysis nucleus cysteine-type peptidase activity ovary(3)|lung(2) 5 TCAAGGAGTCTAGTATAAGAA 0.308 NA 13 74 0 0 0.00245 0 0 CASR 846 broad.mit.edu 37 3 122002643 122002643 + Silent SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr3:122002643C>T uc003eev.3 + 7 2214 c.1842C>T c.(1840-1842)ATC>ATT p.I614I CASR_uc003eew.3_Silent_p.I624I NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 614 Helical; Name=1; (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CCTTTGGGATCGCACTCACCC 0.537 NA 24 90 0 0 0.014323 0 0 PCOLCE2 26577 broad.mit.edu 37 3 142548567 142548567 + Nonsense_Mutation SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr3:142548567G>A uc003evd.2 - 6 1028 c.832C>T c.(832-834)CAG>TAG p.Q278* NM_013363 NP_037495 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 278 extracellular region collagen binding|heparin binding|peptidase activator activity ovary(2)|skin(1) 3 GTGACAGGCTGTTCTGTAGTT 0.368 NA 33 167 0 0 0.012213 0 0 MED12L 116931 broad.mit.edu 37 3 151127077 151127077 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr3:151127077C>A uc003eyp.2 + 38 5800 c.5762C>A c.(5761-5763)CCC>CAC p.P1921H MED12L_uc011bnz.1_Intron NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 1921 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CAAGCACGGCCCTCCCCTCAG 0.527 NA 23 131 1.64293e-13 2.27546e-13 0.00333 1 0 MCF2L2 23101 broad.mit.edu 37 3 182897375 182897375 + Missense_Mutation SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr3:182897375C>T uc003fli.1 - 29 3301 c.3211G>A c.(3211-3213)GAG>AAG p.E1071K NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 1071 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) GTTTCCTCCTCATCGCGTTCT 0.562 NA 12 76 0 0 0.001855 0 0 LMLN 89782 broad.mit.edu 37 3 197707307 197707307 + Silent SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr3:197707307C>T uc011buo.1 + 6 682 c.660C>T c.(658-660)ACC>ACT p.T220T LMLN_uc003fyt.2_Silent_p.T168T|LMLN_uc010iar.2_Silent_p.T220T|LMLN_uc010ias.2_Silent_p.T168T|LMLN_uc003fyu.2_5'UTR NM_033029 NP_149018 Q96KR4 LMLN_HUMAN leishmanolysin-like isoform 2 220 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) CTCTGGCCACCGAGAGATGCA 0.502 NA 32 147 0 0 0.011902 0 0 TECRL 253017 broad.mit.edu 37 4 65274940 65274940 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr4:65274940C>A uc003hcv.2 - 1 239 c.130G>T c.(130-132)GGC>TGC p.G44C TECRL_uc003hcw.2_Missense_Mutation_p.G44C NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 44 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 CTTAGAGGGCCCGCTGAGAGT 0.393 NA 18 31 8.34094e-07 9.87367e-07 0.008871 1 0 ADH7 131 broad.mit.edu 37 4 100340244 100340244 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr4:100340244C>A uc003huv.1 - 7 995 c.896G>T c.(895-897)GGG>GTG p.G299V NM_000673 NP_000664 P40394 ADH7_HUMAN class IV alcohol dehydrogenase, mu or sigma 299 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity lung(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) CACGCTGGTCCCATAGTTCAT 0.493 NA 22 23 6.44725e-10 8.19215e-10 0.014323 1 0 SH3RF1 57630 broad.mit.edu 37 4 170017740 170017740 + Missense_Mutation SNP C C G TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr4:170017740C>G uc003isa.1 - 12 2932 c.2597G>C c.(2596-2598)TGG>TCG p.W866S NM_020870 NP_065921 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 866 SH3 4. Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding breast(2)|lung(1) 3 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) GCCTTTGAACCAGCCATCCTC 0.428 NA 11 140 0 0 0.010729 0 0 VEGFC 7424 broad.mit.edu 37 4 177608435 177608435 + Nonsense_Mutation SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr4:177608435G>A uc003ius.1 - 6 1481 c.1051C>T c.(1051-1053)CAA>TAA p.Q351* NM_005429 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 351 4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.|4. angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity lung(5) 5 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) TTTAGGGGTTGATTTCTGGGG 0.428 NA 166 258 0 0 0.01441 0 0 FAM105B 90268 broad.mit.edu 37 5 14693081 14693081 + Missense_Mutation SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr5:14693081C>T uc003jfk.2 + 7 1135 c.983C>T c.(982-984)CCA>CTA p.P328L NM_138348 NP_612357 Q96BN8 F105B_HUMAN hypothetical protein LOC90268 328 ovary(2) 2 Lung NSC(4;0.00696) AAGGACTGGCCAGTGGTAACG 0.562 NA 22 55 0 0 0.014323 0 0 HTR1A 3350 broad.mit.edu 37 5 63256504 63256504 + Missense_Mutation SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr5:63256504C>T uc011cqt.1 - 1 1043 c.1043G>A c.(1042-1044)GGC>GAC p.G348D NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 348 Helical; Name=6; (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CATGATGATGCCCAGCGTCTT 0.602 NA 32 169 0 0 0.00623 0 0 CWC27 10283 broad.mit.edu 37 5 64081315 64081315 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr5:64081315G>T uc003jtn.1 + 5 623 c.404G>T c.(403-405)GGG>GTG p.G135V CWC27_uc003jtl.2_Missense_Mutation_p.G135V|CWC27_uc003jtm.2_Missense_Mutation_p.G135V|CWC27_uc010iwt.1_Missense_Mutation_p.G135V NM_005869 NP_005860 Q6UX04 CWC27_HUMAN serologically defined colon cancer antigen 10 135 PPIase cyclophilin-type. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity 0 TAGGTTACAGGGGATACAGTA 0.308 NA 10 72 1.56452e-12 2.13484e-12 0.007413 1 0 F2R 2149 broad.mit.edu 37 5 76028404 76028404 + Silent SNP A A T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr5:76028404A>T uc003ken.3 + 2 619 c.354A>T c.(352-354)CCA>CCT p.P118P NM_001992 NP_001983 P25116 PAR1_HUMAN coagulation factor II receptor precursor 118 Helical; Name=1; (Potential). activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity ovary(3) 3 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) TCAGCCTCCCACTAAACATCA 0.517 NA 53 212 0 0 0.01441 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102522089 102522089 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr5:102522089G>T uc003kod.3 + 27 3757 c.3238G>T c.(3238-3240)GAT>TAT p.D1080Y PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.D1080Y|PPIP5K2_uc003kof.2_Intron NM_015216 NP_056031 O43314 VIP2_HUMAN Histidine acid phosphatase domain containing 1 1080 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity ovary(1)|skin(1) 2 TAACCTACAGGATTATGCTCG 0.493 NA 20 51 3.62473e-10 4.64838e-10 0.012319 1 0 FNIP1 96459 broad.mit.edu 37 5 131008460 131008460 + Silent SNP A A G TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr5:131008460A>G uc003kvs.1 - 14 1819 c.1677T>C c.(1675-1677)GAT>GAC p.D559D RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Silent_p.D531D|FNIP1_uc010jdm.1_Silent_p.D514D NM_133372 NP_588613 Q8TF40 FNIP1_HUMAN folliculin interacting protein 1 isoform 1 559 regulation of protein phosphorylation cytoplasm protein binding pancreas(1)|skin(1) 2 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) CGATGGCTTCATCTTCTCCAT 0.363 NA 11 136 0 0 0.00245 0 0 SLC22A4 6583 broad.mit.edu 37 5 131663013 131663013 + Missense_Mutation SNP T T C TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr5:131663013T>C uc003kwq.2 + 5 1033 c.868T>C c.(868-870)TTT>CTT p.F290L SLC22A4_uc010jdq.1_RNA|uc003kwr.3_Intron NM_003059 NP_003050 Q9H015 S22A4_HUMAN solute carrier family 22 member 4 290 Cytoplasmic (Potential). body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity 0 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) CCAGAGAAGATTTAGAGAGGC 0.363 NA 15 49 0 0 0.003163 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182645 140182645 + Silent SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr5:140182645G>A uc003lhf.2 + 1 1863 c.1863G>A c.(1861-1863)CCG>CCA p.P621P PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.P621P NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 621 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGCATCCCGTTTCGCGTGG 0.667 NA 16 79 0 0 0.00499 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503215 140503215 + Silent SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr5:140503215G>A uc003lip.1 + 1 1635 c.1635G>A c.(1633-1635)CTG>CTA p.L545L NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 545 Cadherin 5.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGAGGCGCTGGTGCGCGTGC 0.692 NA 8 87 0 0 0.004482 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140711965 140711965 + Missense_Mutation SNP T T A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr5:140711965T>A uc003lji.1 + 1 1714 c.1714T>A c.(1714-1716)TCT>ACT p.S572T PCDHGA1_uc011dan.1_Missense_Mutation_p.S572T NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 572 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACAGATGGTTCTACCGGCGT 0.662 NA 68 181 0 0 0.01441 0 0 PCDHGB5 56101 broad.mit.edu 37 5 140778496 140778496 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr5:140778496G>T uc003lkf.1 + 1 802 c.802G>T c.(802-804)GAC>TAC p.D268Y PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.D268Y NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 268 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCAGCCACTGACCAAGACGA 0.478 NA 40 128 3.66854e-30 6.31172e-30 0.007835 1 0 LARP1 23367 broad.mit.edu 37 5 154181956 154181956 + Missense_Mutation SNP C C G TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr5:154181956C>G uc003lvp.2 + 11 2535 c.2106C>G c.(2104-2106)ATC>ATG p.I702M LARP1_uc003lvo.2_Missense_Mutation_p.I625M|LARP1_uc010jie.1_Missense_Mutation_p.I497M NM_033551 NP_291029 Q6PKG0 LARP1_HUMAN la related protein isoform 2 702 protein binding|RNA binding ovary(2)|pancreas(1)|skin(1) 4 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ATTCCCAGATCAAGGTGAGGC 0.433 NA 4 71 0 0 0.009096 0 0 ZNF454 285676 broad.mit.edu 37 5 178392687 178392687 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr5:178392687G>T uc003mjo.1 + 5 1553 c.1282G>T c.(1282-1284)GCC>TCC p.A428S ZNF454_uc010jkz.1_Missense_Mutation_p.A428S NM_182594 NP_872400 Q8N9F8 ZN454_HUMAN zinc finger protein 454 428 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) ATCAGCACTAGCCCAACATCA 0.423 NA 16 86 2.32078e-09 2.89575e-09 0.003163 1 0 PHACTR1 221692 broad.mit.edu 37 6 13283719 13283719 + Silent SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr6:13283719C>T uc010jpc.2 + 13 1907 c.1575C>T c.(1573-1575)TAC>TAT p.Y525Y PHACTR1_uc003nah.1_Silent_p.Y525Y|TBC1D7_uc003naj.2_Intron|TBC1D7_uc011dis.1_Intron|uc003nak.1_Intron NM_030948 NP_112210 Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 525 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity 0 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TCAGTGACTACGTGGAGGTGG 0.592 NA 27 143 0 0 0.008361 0 0 KIF13A 63971 broad.mit.edu 37 6 17849677 17849677 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr6:17849677G>T uc003ncg.3 - 9 866 c.761C>A c.(760-762)GCG>GAG p.A254E KIF13A_uc003ncf.2_Missense_Mutation_p.A254E|KIF13A_uc003nch.3_Missense_Mutation_p.A254E|KIF13A_uc003nci.3_Missense_Mutation_p.A254E NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 254 Kinesin-motor. cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TTCGCTACCCGCCAGGTCTAC 0.458 NA 9 43 2.17888e-05 2.47356e-05 0.006214 1 0 SLC17A2 10246 broad.mit.edu 37 6 25921560 25921560 + Silent SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr6:25921560G>T uc011dkb.1 - 3 404 c.321C>A c.(319-321)ATC>ATA p.I107I SLC17A2_uc011dkc.1_Silent_p.I107I|SLC17A2_uc003nfl.2_Silent_p.I107I O00624 NPT3_HUMAN SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2; 107 Helical; (Potential). phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity ovary(1) 1 ATCCACTTGGGATCAGAGTCA 0.448 NA 41 69 4.16155e-14 5.85151e-14 0.00874 1 0 TRIM27 5987 broad.mit.edu 37 6 28872311 28872311 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr6:28872311C>A uc003nlr.2 - 8 1437 c.1078G>T c.(1078-1080)GTC>TTC p.V360F TRIM27_uc003nls.2_Intron|TRIM27_uc003nlt.1_3'UTR NM_006510 NP_006501 P14373 TRI27_HUMAN ret finger protein 360 B30.2/SPRY. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding ovary(1) 1 GAGCCCAAGACACAGGGAAAC 0.537 NA T RET papillary thyroid 26 55 2.47511e-08 2.99391e-08 0.008361 1 0 BTNL2 56244 broad.mit.edu 37 6 32370728 32370728 + Silent SNP C C A rs79379254 TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr6:32370728C>A uc003obg.1 - 3 693 c.693G>T c.(691-693)TCG>TCT p.S231S BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron NM_019602 NP_062548 Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 231 Ig-like V-type 2.|Extracellular (Potential). integral to membrane central_nervous_system(1) 1 GGCTGATGACCGACCCCTTCT 0.582 NA 13 22 1.49906e-05 1.7088e-05 0.00245 1 0 HLA-DQB2 3120 broad.mit.edu 37 6 32726670 32726670 + Missense_Mutation SNP T T G TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr6:32726670T>G uc003oby.3 - 3 686 c.603A>C c.(601-603)CAA>CAC p.Q201H HLA-DQB2_uc003obz.2_Missense_Mutation_p.Q201H NR_003937 Q5SR06 Q5SR06_HUMAN SubName: Full=Major histocompatibility complex, class II, DQ beta 2; SubName: Full=Putative uncharacterized protein ENSP00000372579; 201 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex 0 GGTGCTCCACTTGGCAGGTGT 0.557 NA 4 51 0 0 0.001168 0 0 LPA 4018 broad.mit.edu 37 6 161071502 161071502 + Missense_Mutation SNP T T G TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr6:161071502T>G uc003qtl.2 - 3 197 c.77A>C c.(76-78)CAG>CCG p.Q26P NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 2534 Kringle 23. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GTAGCAATCCTGGACCACATG 0.433 NA 35 78 0 0 0.003755 0 0 COL28A1 340267 broad.mit.edu 37 7 7477083 7477083 + Missense_Mutation SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr7:7477083C>T uc003src.1 - 22 1850 c.1733G>A c.(1732-1734)GGC>GAC p.G578D COL28A1_uc011jxe.1_Missense_Mutation_p.G261D|COL28A1_uc003srd.2_Missense_Mutation_p.G133D|COL28A1_uc003sre.1_5'UTR NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN collagen, type XXVIII precursor 578 Collagen-like 5. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity skin(3) 3 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) GCCCATAATGCCCGGTTCACC 0.313 NA 19 23 0 0 0.00333 0 0 COL28A1 340267 broad.mit.edu 37 7 7477086 7477086 + Missense_Mutation SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr7:7477086G>A uc003src.1 - 22 1847 c.1730C>T c.(1729-1731)CCG>CTG p.P577L COL28A1_uc011jxe.1_Missense_Mutation_p.P260L|COL28A1_uc003srd.2_Missense_Mutation_p.P132L|COL28A1_uc003sre.1_5'UTR NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN collagen, type XXVIII precursor 577 Collagen-like 5. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity skin(3) 3 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) CATAATGCCCGGTTCACCCTT 0.308 NA 18 23 0 0 0.00278 0 0 ABCB5 340273 broad.mit.edu 37 7 20778656 20778656 + Missense_Mutation SNP T T A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr7:20778656T>A uc003suw.3 + 15 2129 c.1583T>A c.(1582-1584)GTT>GAT p.V528D ABCB5_uc010kuh.2_Missense_Mutation_p.V973D NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 528 Helical; (Potential).|ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 GAAACGCTCGTTTTGGCTCCT 0.423 NA 16 22 0 0 0.008871 0 0 BMPER 168667 broad.mit.edu 37 7 34118587 34118587 + Silent SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr7:34118587G>A uc011kap.1 + 12 1311 c.1197G>A c.(1195-1197)TCG>TCA p.S399S NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 399 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 CCCCTGCCTCGCCCTTCCAGG 0.582 NA 48 292 0 0 0.01441 0 0 URGCP 55665 broad.mit.edu 37 7 43917045 43917045 + Missense_Mutation SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr7:43917045G>A uc003tiw.2 - 6 2074 c.2017C>T c.(2017-2019)CGC>TGC p.R673C URGCP_uc003tiu.2_Missense_Mutation_p.R630C|URGCP_uc003tiv.2_Missense_Mutation_p.R598C|URGCP_uc003tix.2_Missense_Mutation_p.R664C|URGCP_uc003tiy.2_Missense_Mutation_p.R630C|URGCP_uc003tiz.2_Missense_Mutation_p.R630C|URGCP_uc011kbj.1_Missense_Mutation_p.R630C NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 673 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 GTGACCCAGCGGACGGGCATG 0.647 NA 33 63 0 0 0.003755 0 0 EGFR 1956 broad.mit.edu 37 7 55249071 55249071 + Missense_Mutation SNP C C T rs121434569 TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr7:55249071C>T uc003tqk.2 + 20 2615 c.2369C>T c.(2368-2370)ACG>ATG p.T790M EGFR_uc010kzg.1_Missense_Mutation_p.T745M|EGFR_uc011kco.1_Missense_Mutation_p.T737M|uc003tqo.2_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 790 Cytoplasmic (Potential).|ATP.|Protein kinase. T -> M (found in a lung cancer sample; increased kinase activity). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.T790M(332)|p.I789_L792del(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CAGCTCATCACGCAGCTCATG 0.602 T790M(NCIH1975_LUNG) 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 109 100 0 0 0.01441 0 0 EGFR 1956 broad.mit.edu 37 7 55259515 55259515 + Missense_Mutation SNP T T G rs121434568 TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr7:55259515T>G uc003tqk.2 + 21 2819 c.2573T>G c.(2572-2574)CTG>CGG p.L858R EGFR_uc010kzg.1_Missense_Mutation_p.L813R|EGFR_uc011kco.1_Missense_Mutation_p.L805R|uc003tqo.2_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 858 Cytoplasmic (Potential).|Protein kinase. L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).|L -> M (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L858R(3429)|p.L858L(4)|p.L858M(4)|p.L858Q(3)|p.L858A(2)|p.L858W(1)|p.L858P(1)|p.L858K(1)|p.L858G(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GATTTTGGGCTGGCCAAACTG 0.537 L858R(NCIH1975_LUNG) 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 98 137 0 0 0.01441 0 0 ZNF680 340252 broad.mit.edu 37 7 63982254 63982254 + Missense_Mutation SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr7:63982254G>A uc003tta.2 - 4 1051 c.878C>T c.(877-879)CCT>CTT p.P293L ZNF680_uc010kzr.2_Missense_Mutation_p.P220L NM_178558 NP_848653 Q8NEM1 ZN680_HUMAN zinc finger protein 680 isoform 1 293 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.118)|all_lung(88;0.243) ACATTTGTAAGGTTTGTCTCC 0.348 NA 4 39 0 0 0.009096 0 0 FKBP6 8468 broad.mit.edu 37 7 72744332 72744332 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr7:72744332G>T uc003tya.2 + 4 577 c.445G>T c.(445-447)GAC>TAC p.D149Y FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Missense_Mutation_p.D144Y|FKBP6_uc010lbe.1_RNA|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank NM_003602 NP_003593 O75344 FKBP6_HUMAN FK506 binding protein 6 isoform a 149 protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 Lung NSC(55;0.0908)|all_lung(88;0.198) TGCTGAGTCAGACAAGTTTTG 0.493 NA 46 47 1.08114e-33 1.8835e-33 0.01441 1 0 BCL7B 9275 broad.mit.edu 37 7 72952325 72952325 + Missense_Mutation SNP G G A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr7:72952325G>A uc003tyf.1 - 5 571 c.455C>T c.(454-456)TCG>TTG p.S152L BCL7B_uc010lbf.1_RNA|BCL7B_uc003tye.1_RNA|BCL7B_uc003tyg.1_Missense_Mutation_p.S95L NM_001707 NP_001698 Q9BQE9 BCL7B_HUMAN B-cell CLL/lymphoma 7B 152 actin binding ovary(1) 1 Lung NSC(55;0.0659)|all_lung(88;0.152) AGCAACTTCCGAGGAGGGCAG 0.537 NA 5 188 0 0 0.001168 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87436744 87436744 + Missense_Mutation SNP C C T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr7:87436744C>T uc003ujb.2 + 10 1475 c.1064C>T c.(1063-1065)ACC>ATC p.T355I RUNDC3B_uc011khd.1_Missense_Mutation_p.T338I|RUNDC3B_uc011khe.1_Missense_Mutation_p.T338I|RUNDC3B_uc003ujc.2_Intron|RUNDC3B_uc003ujd.2_Intron NM_138290 NP_612147 Q96NL0 RUN3B_HUMAN RUN domain containing 3B isoform a 355 skin(1) 1 Esophageal squamous(14;0.00164) GCCCATCTCACCAACCAGTGG 0.413 NA 18 138 0 0 0.010504 0 0 ADAM22 53616 broad.mit.edu 37 7 87780637 87780637 + Splice_Site SNP T T G TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr7:87780637T>G uc003ujn.2 + 20 1760 c.1681_splice c.e20+2 p.K561_splice ADAM22_uc003ujk.1_Splice_Site_p.K561_splice|ADAM22_uc003ujl.1_Splice_Site_p.K561_splice|ADAM22_uc003ujm.2_Splice_Site_p.K561_splice|ADAM22_uc003ujo.2_Splice_Site_p.K561_splice|ADAM22_uc003ujp.1_Splice_Site_p.K613_splice NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) GGGGGCAAAGTAAGTAAATAG 0.403 NA 19 124 0 0 0.012319 0 0 ZNF804B 219578 broad.mit.edu 37 7 88965549 88965549 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr7:88965549G>T uc011khi.1 + 4 3791 c.3253G>T c.(3253-3255)GTG>TTG p.V1085L NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1085 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) ATATACTGGTGTGACTGATTC 0.348 NA HNSCC(36;0.09) 48 65 5.57489e-27 9.30268e-27 0.01441 1 0 CCDC132 55610 broad.mit.edu 37 7 92979331 92979331 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr7:92979331G>T uc003umo.2 + 25 2577 c.2449G>T c.(2449-2451)GAT>TAT p.D817Y CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.D787Y|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.D537Y NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 817 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) CATATATGTAGATGCACTATT 0.378 NA 10 86 0.000442599 0.000477043 0.006214 1 0 C7orf51 222950 broad.mit.edu 37 7 100086913 100086913 + Silent SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr7:100086913G>T uc003uvd.1 + 4 1728 c.1569G>T c.(1567-1569)GGG>GGT p.G523G C7orf51_uc003uve.1_Silent_p.G305G NM_173564 NP_775835 Q6ZVC0 CG051_HUMAN hypothetical protein FLJ37538 523 skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CAGCAGCTGGGGTCCTCCACC 0.692 NA 11 17 4.36969e-10 5.5779e-10 0.001855 1 0 MUC17 140453 broad.mit.edu 37 7 100675478 100675478 + Missense_Mutation SNP G G C TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr7:100675478G>C uc003uxp.1 + 3 834 c.781G>C c.(781-783)GAA>CAA p.E261Q MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 261 Extracellular (Potential).|59 X approximate tandem repeats.|2.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TACAACTGCTGAAGGTCCCAG 0.512 NA 10 278 0 0 0.00245 0 0 MUC17 140453 broad.mit.edu 37 7 100677522 100677522 + Missense_Mutation SNP G G C TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr7:100677522G>C uc003uxp.1 + 3 2878 c.2825G>C c.(2824-2826)AGA>ACA p.R942T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 942 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|13. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TCTGAGGCTAGAACACTTTCA 0.512 NA 33 621 0 0 0.013726 0 0 RELN 5649 broad.mit.edu 37 7 103159823 103159823 + Silent SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr7:103159823G>T uc003vca.2 - 49 7969 c.7809C>A c.(7807-7809)GGC>GGA p.G2603G RELN_uc010liz.2_Silent_p.G2603G NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2603 BNR 12. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCCAGGTAATGCCTCCATTGA 0.413 NSCLC(146;835 1944 15585 22231 52158) NA 64 81 4.46356e-37 7.92568e-37 0.01441 1 0 RELN 5649 broad.mit.edu 37 7 103205942 103205942 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr7:103205942G>T uc003vca.2 - 34 5153 c.4993C>A c.(4993-4995)CAG>AAG p.Q1665K RELN_uc010liz.2_Missense_Mutation_p.Q1665K NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1665 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ATTTCAAACTGCAAAAAGGTA 0.433 NSCLC(146;835 1944 15585 22231 52158) NA 10 54 2.23348e-06 2.61044e-06 0.004007 1 0 ORC5L 5001 broad.mit.edu 37 7 103844634 103844634 + Missense_Mutation SNP T T C TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr7:103844634T>C uc003vcb.2 - 2 232 c.121A>G c.(121-123)AGT>GGT p.S41G ORC5L_uc011klp.1_5'UTR|ORC5L_uc003vcc.2_Missense_Mutation_p.S41G|ORC5L_uc003vcd.2_Missense_Mutation_p.S41G NM_002553 NP_002544 O43913 ORC5_HUMAN origin recognition complex subunit 5 isoform 1 41 ATP (Potential). cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle cytoplasm|nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|identical protein binding 0 GTCTTTCCACTAGCAGTATGT 0.294 NA 23 15 0 0 0.005443 0 0 CPA2 1358 broad.mit.edu 37 7 129909536 129909536 + Missense_Mutation SNP C C G TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr7:129909536C>G uc003vpq.2 + 3 200 c.181C>G c.(181-183)CCA>GCA p.P61A CPA2_uc011kpc.1_Missense_Mutation_p.P61A NM_001869 NP_001860 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) precursor 61 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) ACCCACCACCCCAGGGGAGAC 0.498 NA 67 81 0 0 0.01441 0 0 GIMAP8 155038 broad.mit.edu 37 7 150164352 150164352 + Missense_Mutation SNP T T C TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr7:150164352T>C uc003whj.2 + 2 896 c.566T>C c.(565-567)GTT>GCT p.V189A NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 189 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) CTTCGCAAGGTTGAGTCTTTG 0.428 NA 30 228 0 0 0.012213 0 0 PRKAG2 51422 broad.mit.edu 37 7 151372540 151372540 + Missense_Mutation SNP A A T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr7:151372540A>T uc003wkk.2 - 4 1261 c.650T>A c.(649-651)CTG>CAG p.L217Q PRKAG2_uc011kvl.1_Missense_Mutation_p.L93Q|PRKAG2_uc003wkj.2_Missense_Mutation_p.L173Q|PRKAG2_uc010lqe.1_RNA|PRKAG2_uc003wkm.1_Missense_Mutation_p.L217Q NM_016203 NP_057287 Q9UGJ0 AAKG2_HUMAN AMP-activated protein kinase gamma2 subunit 217 ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process AMP-activated protein kinase complex|cytosol|nucleoplasm ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding breast(1)|kidney(1) 2 all_neural(206;0.187) all_hematologic(28;0.0605) OV - Ovarian serous cystadenocarcinoma(82;0.00252) UCEC - Uterine corpus endometrioid carcinoma (81;0.185) CGGTGATGCCAGTGGAGGCCT 0.622 NA 34 50 0 0 0.005524 0 0 CSMD1 64478 broad.mit.edu 37 8 2944669 2944669 + Missense_Mutation SNP C C G TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr8:2944669C>G uc011kwk.1 - 49 7817 c.7427G>C c.(7426-7428)CGA>CCA p.R2476P CSMD1_uc011kwj.1_Missense_Mutation_p.R1805P|CSMD1_uc010lrg.2_Missense_Mutation_p.R544P NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2476 Sushi 14.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AAGTGGGTTTCGTCTACAGGT 0.507 NA 14 47 0 0 0.00245 0 0 CSMD1 64478 broad.mit.edu 37 8 3265422 3265422 + Silent SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr8:3265422G>T uc011kwk.1 - 14 2463 c.2073C>A c.(2071-2073)ACC>ACA p.T691T CSMD1_uc011kwj.1_Silent_p.T83T NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 691 Extracellular (Potential).|CUB 4. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CGTACTTACTGGTGTAAGTGA 0.438 NA 4 14 2.56e-06 2.9795e-06 0.009096 1 0 EXTL3 2137 broad.mit.edu 37 8 28600642 28600642 + Missense_Mutation SNP A A G TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr8:28600642A>G uc003xgz.1 + 6 3054 c.2461A>G c.(2461-2463)ATC>GTC p.I821V NM_001440 NP_001431 O43909 EXTL3_HUMAN exostoses-like 3 821 Lumenal (Potential). integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding skin(2) 2 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) GCCCCAGGCCATCCGGGACAT 0.493 NA 83 271 0 0 0.01441 0 0 TEX15 56154 broad.mit.edu 37 8 30703484 30703484 + Missense_Mutation SNP A A T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr8:30703484A>T uc003xil.2 - 1 3050 c.3050T>A c.(3049-3051)CTT>CAT p.L1017H NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1017 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTTAGTTATAAGCTGCAAAGA 0.338 NA 29 140 0 0 0.007291 0 0 MYST3 7994 broad.mit.edu 37 8 41791382 41791382 + Silent SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr8:41791382C>A uc010lxb.2 - 18 4900 c.4356G>T c.(4354-4356)GCG>GCT p.A1452A MYST3_uc010lxc.2_Silent_p.A1452A|MYST3_uc003xon.3_Silent_p.A1452A NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 1452 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) GGGTCTGACACGCCGCAAGAG 0.532 NA 25 148 3.11337e-16 4.53897e-16 0.013726 1 0 KCNB2 9312 broad.mit.edu 37 8 73480430 73480430 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr8:73480430G>T uc003xzb.2 + 2 1049 c.461G>T c.(460-462)CGA>CTA p.R154L NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 154 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) GAACTGAGGCGAGAGGCAGAG 0.453 NA 36 185 6.5261e-18 9.71898e-18 0.00874 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88885425 88885425 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr8:88885425C>A uc003ydz.2 - 1 872 c.775G>T c.(775-777)GGC>TGC p.G259C NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 259 ovary(1) 1 CACCCGCTGCCTTGATTTCCA 0.507 NA 24 80 5.35356e-11 7.0616e-11 0.00278 1 0 MTERFD1 51001 broad.mit.edu 37 8 97270732 97270732 + Missense_Mutation SNP T T A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr8:97270732T>A uc003yhs.1 - 2 265 c.187A>T c.(187-189)ACT>TCT p.T63S MTERFD1_uc003yhr.1_5'Flank|MTERFD1_uc010mbd.1_Missense_Mutation_p.T63S NM_015942 NP_057026 Q96E29 MTER1_HUMAN MTERF domain containing 1 precursor 63 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion transcription regulatory region DNA binding ovary(1) 1 Breast(36;5.16e-05) AAGGAGGAAGTCCTGTAAGTC 0.433 NA 23 103 0 0 0.00278 0 0 EIF2C2 27161 broad.mit.edu 37 8 141595310 141595310 + Missense_Mutation SNP C C G TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr8:141595310C>G uc003yvn.2 - 2 163 c.123G>C c.(121-123)CAG>CAC p.Q41H EIF2C2_uc010men.2_Intron|EIF2C2_uc010meo.2_Missense_Mutation_p.Q41H NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN argonaute 2 isoform 1 41 mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity 0 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) AGAAATTGGCCTGTAATTTGA 0.498 NA 27 88 0 0 0.005443 0 0 INSL6 11172 broad.mit.edu 37 9 5185531 5185531 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr9:5185531G>T uc003zix.2 - 1 88 c.72C>A c.(70-72)AGC>AGA p.S24R NM_007179 NP_009110 Q9Y581 INSL6_HUMAN insulin-like 6 precursor 24 extracellular region hormone activity 0 all_hematologic(13;0.137) Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145) TGCTGATGTCGCTCAGTTCAC 0.587 NA 23 25 1.5548e-18 2.34065e-18 0.005443 1 0 KIAA1045 23349 broad.mit.edu 37 9 34977191 34977191 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr9:34977191C>A uc003zvq.2 + 6 1139 c.961C>A c.(961-963)CAC>AAC p.H321N KIAA1045_uc003zvr.2_Missense_Mutation_p.H321N NM_015297 NP_056112 Q9UPV7 K1045_HUMAN hypothetical protein LOC23349 321 calcium ion binding skin(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00575) CCGGGCCCAGCACTCTTGGTT 0.637 NA 35 72 4.44401e-20 6.83884e-20 0.010771 1 0 CXorf22 170063 broad.mit.edu 37 X 35993959 35993959 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chrX:35993959G>T uc004ddj.2 + 15 2701 c.2642G>T c.(2641-2643)TGT>TTT p.C881F CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 881 large_intestine(1)|lung(1)|ovary(1) 3 CGTCAGAATTGTTGTGCTCAG 0.383 NA 61 74 6.2918e-36 1.10306e-35 0.01441 1 0 RBM10 8241 broad.mit.edu 37 X 47034492 47034492 + Splice_Site SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chrX:47034492G>T uc004dhf.2 + 6 955 c.576_splice c.e6+1 p.Q192_splice RBM10_uc004dhe.1_Intron|RBM10_uc004dhg.2_Splice_Site_p.Q115_splice|RBM10_uc004dhh.2_Splice_Site_p.Q192_splice|RBM10_uc010nhq.2_Splice_Site_p.Q115_splice|RBM10_uc004dhi.2_Splice_Site_p.Q257_splice NM_005676 NP_005667 P98175 RBM10_HUMAN RNA binding motif protein 10 isoform 1 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1) 5 AGCCAATCAGGTTGCTTTGCC 0.542 Melanoma(171;120 2705 19495 39241) NA 24 20 1.08312e-15 1.56263e-15 0.009535 1 0 TSPYL2 64061 broad.mit.edu 37 X 53114870 53114870 + Silent SNP A A C TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chrX:53114870A>C uc004drw.2 + 6 1428 c.1296A>C c.(1294-1296)GCA>GCC p.A432A TSPYL2_uc004drv.2_3'UTR|TSPYL2_uc004drx.1_Silent_p.A37A NM_022117 NP_071400 Q9H2G4 TSYL2_HUMAN TSPY-like 2 432 cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus protein binding|rDNA binding 0 ACTATTATGCAGTGGAAGACA 0.488 NA 31 43 0 0 0.013726 0 0 TCEAL2 140597 broad.mit.edu 37 X 101382384 101382384 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chrX:101382384G>T uc004eip.2 + 3 801 c.582G>T c.(580-582)ATG>ATT p.M194I NM_080390 NP_525129 Q9H3H9 TCAL2_HUMAN transcription elongation factor A (SII)-like 2 194 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 TTTTGTGGATGCAAAGAAATT 0.463 NA 68 122 1.07941e-43 1.95423e-43 0.01441 1 0 GLRA4 441509 broad.mit.edu 37 X 102979534 102979534 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chrX:102979534G>T uc011mse.1 - 3 626 c.205C>A c.(205-207)CCA>ACA p.P69T GLRA4_uc010nou.2_Missense_Mutation_p.P69T NM_001024452 NP_001019623 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 precursor 69 Extracellular (Potential). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity 0 TTCACGGGTGGGCCTGAGGGT 0.582 NA 7 18 0.000157383 0.000175081 0.00308 1 0 DCAF12L2 340578 broad.mit.edu 37 X 125299021 125299021 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chrX:125299021G>T uc004euk.1 - 1 914 c.887C>A c.(886-888)TCC>TAC p.S296Y NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 296 WD 3. lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 CAGGAGCCTGGATAGTGTGCT 0.612 NA 46 82 4.48484e-38 8.06688e-38 0.01441 1 0 DCAF12L2 340578 broad.mit.edu 37 X 125299047 125299047 + Missense_Mutation SNP G G T TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chrX:125299047G>T uc004euk.1 - 1 888 c.861C>A c.(859-861)CAC>CAA p.H287Q NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 287 WD 3. lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 CTTTCCACAGGTGGAAGTAGC 0.617 NA 43 82 1.0331e-37 1.84624e-37 0.01441 1 0 PVRL4 81607 broad.mit.edu 37 1 161049685 161049685 + Frame_Shift_Del DEL C C - TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr1:161049685delC uc001fxo.2 - 2 433 c.134delG c.(133-135)GGCfs p.G45fs NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 precursor 45 Ig-like V-type 1.|Extracellular (Potential). adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane ovary(2) 2 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TGCGTCCTGGCCCAGCACCAC 0.677 NSCLC(76;1160 1387 14476 16172 29359) NA 24 124 --- --- --- --- NA NA NA NA NA ZNF521 25925 broad.mit.edu 37 18 22902131 22902131 + Frame_Shift_Del DEL C C - rs7235917 TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr18:22902131delC uc002kvk.2 - 3 308 c.61delG c.(61-63)GACfs p.D21fs ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Frame_Shift_Del_p.D21fs|ZNF521_uc002kvl.2_5'UTR NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 21 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TCAGTCTTGTCTTCAAGTTTA 0.433 NA T PAX5 ALL 30 163 --- --- --- --- NA NA NA NA NA GZMK 3003 broad.mit.edu 37 5 54320167 54320167 + Frame_Shift_Del DEL C C - TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr5:54320167delC uc003jpl.1 + 1 61 c.17delC c.(16-18)TCCfs p.S6fs NM_002104 NP_002095 P49863 GRAK_HUMAN granzyme K precursor 6 proteolysis extracellular region serine-type endopeptidase activity 0 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) AAGTTTTCTTCCTTTTCTCTG 0.318 NA 19 45 --- --- --- --- NA NA NA NA NA OR2A5 393046 broad.mit.edu 37 7 143748258 143748258 + Frame_Shift_Del DEL C C - TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chr7:143748258delC uc011ktw.1 + 1 764 c.764delC c.(763-765)GCCfs p.A255fs NM_012365 NP_036497 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, 255 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Melanoma(164;0.0783) TTTGGCAGCGCCATTGTCATG 0.587 NA 138 152 --- --- --- --- NA NA NA NA NA MAGEA3 4102 broad.mit.edu 37 X 151935379 151935379 + Frame_Shift_Del DEL C C - TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 136bc973-1908-4767-9b22-d43d522b7c71 417cd2e0-404a-4820-be10-b02d26fe89fd g.chrX:151935379delC uc004fgp.2 - 3 997 c.788delG c.(787-789)GGCfs p.G263fs NM_005362 NP_005353 P43357 MAGA3_HUMAN melanoma antigen family A, 3 263 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) AGGATCACTGCCGGGGACCTG 0.527 NA 39 92 --- --- --- --- NA NA NA NA NA