Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ZNF646 9726 broad.mit.edu 37 16 31087973 31087973 + Missense_Mutation SNP C C T TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr16:31087973C>T ENST00000394979.2 + 1 751 c.328C>T c.(328-330)Ccc>Tcc p.P110S ZNF646_ENST00000300850.5_Missense_Mutation_p.P110S O15015 ZN646_HUMAN zinc finger protein 646 110 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 GCCCCCACGCCCCAAGGAAGC 0.597000 12 47 0 0 1 0 0 ZNF511 118472 broad.mit.edu 37 10 135123764 135123764 + Missense_Mutation SNP C C T TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr10:135123764C>T ENST00000359035.3 + 4 529 c.526C>T c.(526-528)Cgg>Tgg p.R176W ZNF511_ENST00000368554.4_Missense_Mutation_p.R111W|ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000361518.5_Missense_Mutation_p.R176W Q8NB15 ZN511_HUMAN zinc finger protein 511 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06) CGCGGACTTCCGGTTTGATAA 0.512000 24 83 0 0 1 0 0 AGO4 192670 broad.mit.edu 37 1 36291346 36291346 + Silent SNP C C A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr1:36291346C>A ENST00000373210.3 + 5 800 c.555C>A c.(553-555)ggC>ggA p.G185G NM_017629.3 NP_060099.2 argonaute RISC catalytic component 4 TGGGAGGGGGCAGGGAGGTCT 0.478000 10 147 0.000673444 0.00069406 1 1 0 ARMC5 79798 broad.mit.edu 37 16 31473893 31473893 + Missense_Mutation SNP C C T TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr16:31473893C>T ENST00000457010.2 + 3 1726 c.1025C>T c.(1024-1026)cCa>cTa p.P342L ARMC5_ENST00000563544.1_Missense_Mutation_p.P342L|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Missense_Mutation_p.P342L|ARMC5_ENST00000408912.3_Missense_Mutation_p.P437L|ARMC5_ENST00000538189.1_Missense_Mutation_p.P374L NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 342 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 GGAGCTAGCCCAACCTCCCAG 0.647000 14 37 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87138751 87138751 + Missense_Mutation SNP C C T TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr7:87138751C>T ENST00000265724.3 - 27 3746 c.3329G>A c.(3328-3330)cGa>cAa p.R1110Q ABCB1_ENST00000543898.1_Missense_Mutation_p.R1046Q|ABCB1_ENST00000488737.2_5'UTR NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 1110 ABC transporter 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CAGGTGTGCTCGGAGCCACTG 0.502000 18 67 0 0 1 0 0 MTIF3 219402 broad.mit.edu 37 13 28014281 28014281 + Missense_Mutation SNP C C T TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr13:28014281C>T ENST00000381116.1 - 5 539 c.305G>A c.(304-306)cGa>cAa p.R102Q MTIF3_ENST00000431572.2_Missense_Mutation_p.R102Q|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000381120.3_Missense_Mutation_p.R102Q|MTIF3_ENST00000405591.2_Missense_Mutation_p.R102Q Q9H2K0 IF3M_HUMAN mitochondrial translational initiation factor 3 102 regulation of translational initiation|ribosome disassembly mitochondrion ribosomal small subunit binding|translation initiation factor activity endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 7 Lung SC(185;0.0161) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157) CACATTTGCTCGGTGCATGTT 0.413000 21 107 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216248067 216248067 + Silent SNP A A C TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr2:216248067A>C ENST00000354785.4 - 31 5403 c.5034T>G c.(5032-5034)acT>acG p.T1678T FN1_ENST00000446046.1_Silent_p.T1587T|FN1_ENST00000443816.1_Silent_p.T1587T|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000432072.2_Silent_p.T1678T|FN1_ENST00000323926.6_Silent_p.T1678T|FN1_ENST00000359671.1_Silent_p.T1587T|FN1_ENST00000357867.4_Silent_p.T1587T|FN1_ENST00000357009.2_Silent_p.T1587T|FN1_ENST00000356005.4_Silent_p.T1587T|FN1_ENST00000346544.3_Silent_p.T1587T|FN1_ENST00000345488.5_Silent_p.T1587T|FN1_ENST00000336916.4_Silent_p.T1587T|FN1_ENST00000421182.1_Silent_p.T1587T P02751 FINC_HUMAN fibronectin 1 1678 Fibronectin type-III 12; extra domain. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGCAGTTTTAGTTTTTGTTG 0.502000 28 96 0 0 1 0 0 CHERP 10523 broad.mit.edu 37 19 16631002 16631002 + Missense_Mutation SNP G G A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr19:16631002G>A ENST00000546361.2 - 15 2571 c.2420C>T c.(2419-2421)cCa>cTa p.P807L C19orf44_ENST00000221671.3_3'UTR|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.P818L|CHERP_ENST00000544299.1_5'UTR NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 807 Arg-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 TCTTCTTCCTGGGGAGTACGA 0.647000 8 71 0 0 1 0 0 MAP2K7 5609 broad.mit.edu 37 19 7976464 7976464 + Splice_Site SNP G G T TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr19:7976464G>T ENST00000545011.1 + 9 1270 c.e9+1 MAP2K7_ENST00000397979.3_Splice_Site|MAP2K7_ENST00000397983.3_Splice_Site|MAP2K7_ENST00000397981.3_Splice_Site O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1) 19 Etoposide(DB00773) TCAAAGACTGGTGAGAACCTC 0.632000 3 10 0.004672 0.00476638 1 1 0 PDE10A 10846 broad.mit.edu 37 6 165756893 165756893 + Missense_Mutation SNP T T C TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr6:165756893T>C ENST00000366882.1 - 20 2208 c.2054A>G c.(2053-2055)gAa>gGa p.E685G PDE10A_ENST00000539869.2_Missense_Mutation_p.E695G|PDE10A_ENST00000354448.4_Missense_Mutation_p.E685G Q9Y233 PDE10_HUMAN phosphodiesterase 10A 685 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) AGCCCAGAATTCTGCATATAT 0.378000 13 52 0 0 1 0 0 COASY 80347 broad.mit.edu 37 17 40714726 40714726 + Missense_Mutation SNP C C A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr17:40714726C>A ENST00000393818.2 + 1 542 c.86C>A c.(85-87)gCg>gAg p.A29E COASY_ENST00000590958.1_Missense_Mutation_p.A58E|COASY_ENST00000421097.2_Missense_Mutation_p.A29E|COASY_ENST00000420359.1_Missense_Mutation_p.A29E|COASY_ENST00000449624.1_Intron NM_025233.6 NP_079509.5 Q13057 COASY_HUMAN CoA synthase 29 coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 21 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) CTGACCTCGGCGGCCCGGCTG 0.692000 12 67 6.40141e-05 6.87811e-05 1 1 0 SLC14A1 6563 broad.mit.edu 37 18 43329753 43329753 + Missense_Mutation SNP C C G TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr18:43329753C>G ENST00000321925.4 + 10 1239 c.1007C>G c.(1006-1008)cCa>cGa p.P336R SLC14A1_ENST00000402943.2_Missense_Mutation_p.P231R|SLC14A1_ENST00000502059.2_Missense_Mutation_p.P228R|SLC14A1_ENST00000415427.3_Missense_Mutation_p.P392R|SLC14A1_ENST00000436407.3_Missense_Mutation_p.P392R|SLC14A1_ENST00000535474.1_Missense_Mutation_p.P204R|SLC14A1_ENST00000589700.1_Missense_Mutation_p.Q287E|SLC14A1_ENST00000586142.1_Missense_Mutation_p.P336R|SLC14A1_ENST00000591541.1_Missense_Mutation_p.P40R NM_001128588.3|NM_001146036.2|NM_015865.6 NP_001122060.3|NP_001139508.2|NP_056949.4 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 336 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 GTTGGATTGCCAGCTTGTACC 0.493000 16 69 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 7 50 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 9 80 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82585749 82585749 + Missense_Mutation SNP C C A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr7:82585749C>A ENST00000423517.2 - 5 4857 c.4520G>T c.(4519-4521)aGa>aTa p.R1507I PCLO_ENST00000333891.8_Missense_Mutation_p.R1507I NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1438 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.R1507K(2)|p.R1438K(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATAAGGCTCTCTTCTAGTAGT 0.383000 12 43 0.00010058 0.000106932 1 1 0 PTH2R 5746 broad.mit.edu 37 2 209293016 209293016 + Missense_Mutation SNP C C A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr2:209293016C>A ENST00000272847.2 + 2 379 c.166C>A c.(166-168)Ctc>Atc p.L56I PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 56 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) CACAGCTCAACTCCAGGAGGG 0.438000 7 16 2.0095e-06 2.20608e-06 1 1 0 PRPF4B 8899 broad.mit.edu 37 6 4032971 4032971 + Missense_Mutation SNP G G C TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr6:4032971G>C ENST00000337659.6 + 2 1320 c.1220G>C c.(1219-1221)aGa>aCa p.R407T PRPF4B_ENST00000538861.1_Missense_Mutation_p.R393T NM_003913.4 NP_003904.3 Q13523 PRP4B_HUMAN pre-mRNA processing factor 4B 407 Arg/Lys-rich (basic). catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 22 Ovarian(93;0.0925) all_hematologic(90;0.0895) CCAGAGAGGAGACGACTTTCT 0.433000 19 80 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14798938 14798938 + Silent SNP G G A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr3:14798938G>A ENST00000253697.3 + 13 2453 c.2001G>A c.(1999-2001)ccG>ccA p.P667P C3orf20_ENST00000435614.1_Silent_p.P545P|C3orf20_ENST00000412910.1_Silent_p.P545P NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 667 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 CAGACTGCCCGCTGGTGCTGC 0.672000 10 26 0 0 1 0 0 UPP2 151531 broad.mit.edu 37 2 158962650 158962650 + Silent SNP G G A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr2:158962650G>A ENST00000605860.1 + 5 319 c.273G>A c.(271-273)ttG>ttA p.L91L UPP2_ENST00000005756.4_Silent_p.L34L|UPP2_ENST00000409859.4_Silent_p.L91L|UPP2_ENST00000460456.1_3'UTR O95045 UPP2_HUMAN uridine phosphorylase 2 34 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 ACTTGGATTTGATGGATGAAG 0.308000 6 19 0 0 1 0 0 GIGYF2 26058 broad.mit.edu 37 2 233651883 233651883 + Nonsense_Mutation SNP G G T TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr2:233651883G>T ENST00000373566.3 + 10 819 c.622G>T c.(622-624)Gga>Tga p.G208* GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.G208*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.G186*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.G17*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.G208*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.G186*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.G186* Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 186 Arg-rich. cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) TGAGGAAGGTGGACCAACATC 0.388000 11 47 2.27111e-07 2.60662e-07 1 1 0 TANGO2 128989 broad.mit.edu 37 22 20041042 20041042 + Silent SNP C C T TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr22:20041042C>T ENST00000327374.4 + 5 526 c.348C>T c.(346-348)taC>taT p.Y116Y TANGO2_ENST00000401833.1_Silent_p.Y157Y|TANGO2_ENST00000401886.1_Intron|TANGO2_ENST00000398042.2_Intron|TANGO2_ENST00000456048.1_Silent_p.Y121Y|TANGO2_ENST00000447208.2_Silent_p.Y116Y|TANGO2_ENST00000434570.2_Silent_p.Y157Y|TANGO2_ENST00000432883.1_Intron|TANGO2_ENST00000479679.1_3'UTR|TANGO2_ENST00000420290.2_Intron NM_152906.4 NP_690870.3 transport and golgi organization 2 homolog (Drosophila) GCCATCTGTACAATGGCTTCA 0.592000 7 42 0 0 1 0 0 MEP1B 4225 broad.mit.edu 37 18 29793353 29793353 + Silent SNP G G A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr18:29793353G>A ENST00000269202.6 + 11 1457 c.1410G>A c.(1408-1410)gtG>gtA p.V470V MEP1B_ENST00000581447.1_Silent_p.V470V NM_005925.2 NP_005916.2 Q16820 MEP1B_HUMAN meprin A, beta 470 MATH. digestion|proteolysis extracellular space|integral to plasma membrane metalloendopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 TAGCCCATGTGACTAATGCAG 0.418000 8 24 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86189094 86189094 + Nonsense_Mutation SNP C C G TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr15:86189094C>G ENST00000394518.2 + 10 4378 c.4283C>G c.(4282-4284)tCa>tGa p.S1428* RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Nonsense_Mutation_p.S1428* NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1428 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 GAGTGTACCTCAAAACAAGGT 0.383000 25 58 0 0 1 0 0 FZD6 8323 broad.mit.edu 37 8 104337639 104337639 + Nonsense_Mutation SNP C C G TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr8:104337639C>G ENST00000358755.4 + 4 1622 c.1305C>G c.(1303-1305)taC>taG p.Y435* FZD6_ENST00000540287.1_Nonsense_Mutation_p.Y130*|FZD6_ENST00000523739.1_Nonsense_Mutation_p.Y403*|FZD6_ENST00000522566.1_Nonsense_Mutation_p.Y435* NM_001164616.1|NM_003506.3 NP_001158088.1|NP_003497.2 O60353 FZD6_HUMAN frizzled family receptor 6 435 angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) TCGGATGTTACGTCTATGAGC 0.418000 32 140 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952065 178952065 + Missense_Mutation SNP G G A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr3:178952065G>A ENST00000263967.3 + 21 3277 c.3120G>A c.(3118-3120)atG>atA p.M1040I NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1040 PI3K/PI4K. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.M1040I(2) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AGTATTTCATGAAACAAATGA 0.388000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 23 72 0 0 1 0 0 CNBD2 140894 broad.mit.edu 37 20 34596245 34596245 + Missense_Mutation SNP G G A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr20:34596245G>A ENST00000373973.3 + 9 1170 c.997G>A c.(997-999)Gaa>Aaa p.E333K CNBD2_ENST00000349339.1_Missense_Mutation_p.E333K|CNBD2_ENST00000538900.1_Missense_Mutation_p.E333K cyclic nucleotide binding domain containing 2 AAGATTTAAGGAATTCCAGAT 0.403000 27 77 0 0 1 0 0 CHML 1122 broad.mit.edu 37 1 241797567 241797567 + Missense_Mutation SNP C C T TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr1:241797567C>T ENST00000366553.1 - 1 1665 c.1502G>A c.(1501-1503)tGc>tAc p.C501Y OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron NM_001821.3 NP_001812.2 P26374 RAE2_HUMAN choroideremia-like (Rab escort protein 2) 501 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1) 26 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) GTCCTTCATGCATGTCATGGT 0.413000 17 70 0 0 1 0 0 PMS2CL 441194 broad.mit.edu 37 7 6777369 6777369 + RNA SNP T T C rs35291651 by1000genomes TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr7:6777369T>C ENST00000486256.1 + 0 1496 NR_002217.1 ACGTGTCAGCTTCTCAGGTTG 0.348000 3 29 0 0 1 0 0 PAPD7 11044 broad.mit.edu 37 5 6755014 6755014 + Missense_Mutation SNP C C A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr5:6755014C>A ENST00000230859.6 + 13 1714 c.1585C>A c.(1585-1587)Cac>Aac p.H529N NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 529 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GAGGAAAAAACACACACACAC 0.657000 8 24 3.09899e-07 3.51683e-07 1 1 0 LMLN 89782 broad.mit.edu 37 3 197687111 197687111 + Missense_Mutation SNP C C T TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr3:197687111C>T ENST00000330198.4 + 1 41 c.19C>T c.(19-21)Ccg>Tcg p.P7S LMLN_ENST00000420910.2_Missense_Mutation_p.P7S|LMLN_ENST00000482695.1_5'UTR NM_033029.3 NP_149018.2 Q96KR4 LMLN_HUMAN leishmanolysin-like (metallopeptidase M8 family) 7 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 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) GACGCTCGGCCCGAAGATGGC 0.746000 13 32 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154585912 154585912 + Splice_Site SNP G G C TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr7:154585912G>C ENST00000404039.1 + 11 1655 c.1068_splice c.e11+1 p.K356_splice DPP6_ENST00000377770.3_Splice_Site_p.K420_splice|DPP6_ENST00000332007.3_Splice_Site_p.K358_splice|DPP6_ENST00000427557.1_Splice_Site_p.K313_splice NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 420 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TCTGCACGAAGGTACGCGGGG 0.692000 4 13 0 0 1 0 0 ZNF169 169841 broad.mit.edu 37 9 97063546 97063546 + Missense_Mutation SNP C C T TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr9:97063546C>T ENST00000395395.2 + 5 1796 c.1706C>T c.(1705-1707)cCg>cTg p.P569L ZNF169_ENST00000340911.4_3'UTR NM_194320.2 NP_919301.2 Q14929 ZN169_HUMAN zinc finger protein 169 569 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(62;0.136) GGGGAGAAGCCGTATGTCTGC 0.562000 12 54 0 0 1 0 0 CETN1 1068 broad.mit.edu 37 18 580457 580457 + Missense_Mutation SNP A A G TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr18:580457A>G ENST00000327228.3 + 1 91 c.49A>G c.(49-51)Aga>Gga p.R17G NM_004066.1 NP_004057.1 Q12798 CETN1_HUMAN centrin, EF-hand protein, 1 17 cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2) 25 CGGCCAAAAGAGAAAGGTGGC 0.622000 5 14 0 0 1 0 0 COMT 1312 broad.mit.edu 37 22 19951227 19951227 + Missense_Mutation SNP C C T rs145228139 byFrequency TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr22:19951227C>T ENST00000361682.6 + 4 810 c.428C>T c.(427-429)cCc>cTc p.P143L COMT_ENST00000407537.1_Missense_Mutation_p.P93L|COMT_ENST00000406520.3_Missense_Mutation_p.P143L|COMT_ENST00000403710.1_Missense_Mutation_p.P143L|COMT_ENST00000403184.1_Missense_Mutation_p.P143L|COMT_ENST00000449653.1_Missense_Mutation_p.P93L|COMT_ENST00000493893.1_3'UTR NM_000754.3 NP_000745.1 P21964 COMT_HUMAN catechol-O-methyltransferase 143 neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction catechol O-methyltransferase activity|magnesium ion binding|protein binding kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1) 5 Colorectal(54;0.0993) Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323) GAGATCAACCCCGACTGTGCC 0.632000 5 20 0 0 1 0 0 HYLS1 219844 broad.mit.edu 37 11 125769445 125769445 + Missense_Mutation SNP G G A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr11:125769445G>A ENST00000425380.2 + 3 963 c.182G>A c.(181-183)cGa>cAa p.R61Q PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Missense_Mutation_p.R61Q|HYLS1_ENST00000356438.3_Missense_Mutation_p.R61Q NM_001134793.1 NP_001128265.1 Q96M11 HYLS1_HUMAN hydrolethalus syndrome 1 61 centrosome|nucleus breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1) 9 all_hematologic(175;0.177) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446) CCAGGGAAGCGACCTGCTCTT 0.507000 18 36 0 0 1 0 0 PLCG1 5335 broad.mit.edu 37 20 39788302 39788302 + Missense_Mutation SNP C C G TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr20:39788302C>G ENST00000373272.2 + 2 679 c.274C>G c.(274-276)Cgc>Ggc p.R92G PLCG1_ENST00000244007.3_Missense_Mutation_p.R92G|PLCG1_ENST00000373271.1_Missense_Mutation_p.R92G NM_002660.2 NP_002651.2 P19174 PLCG1_HUMAN phospholipase C, gamma 1 92 PH 1. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) GGACTTTGATCGCTATCAAGA 0.517000 12 44 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149966 34149966 + Missense_Mutation SNP C C A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chrX:34149966C>A ENST00000346193.3 - 1 481 c.430G>T c.(430-432)Gat>Tat p.D144Y NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 144 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 AGTAGGAGATCTGGAGGCATA 0.557000 30 18 6.38683e-12 7.50081e-12 1 1 0 DNAH9 1770 broad.mit.edu 37 17 11696832 11696832 + Missense_Mutation SNP T T G TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr17:11696832T>G ENST00000262442.3 + 42 8142 c.8074T>G c.(8074-8076)Tcc>Gcc p.S2692A DNAH9_ENST00000454412.2_Missense_Mutation_p.S2692A NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2692 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 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) CATTCTCTTCTCCTCAGTGGA 0.388000 20 44 0 0 1 0 0 PSG2 5670 broad.mit.edu 37 19 43576014 43576014 + Missense_Mutation SNP G G C rs141385747 by1000genomes TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr19:43576014G>C ENST00000406487.1 - 4 900 c.802C>G c.(802-804)Ccg>Gcg p.P268A NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 268 Ig-like C2-type 2. cell migration|female pregnancy extracellular region p.P268S(1) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) TACTGTGCCGGTGGGTTAGAG 0.453000 115 181 0 0 1 0 0 SGTA 6449 broad.mit.edu 37 19 2767622 2767622 + Missense_Mutation SNP G G A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr19:2767622G>A ENST00000221566.2 - 3 324 c.163C>T c.(163-165)Cct>Tct p.P55S NM_003021.3 NP_003012.1 O43765 SGTA_HUMAN small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha 55 interspecies interaction between organisms cytoplasm protein binding endometrium(2)|large_intestine(2)|lung(2)|ovary(1) 7 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) AGAGTCTGAGGGAGCGCAAGG 0.597000 6 22 0 0 1 0 0 RTP2 344892 broad.mit.edu 37 3 187416485 187416485 + Missense_Mutation SNP T T C TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr3:187416485T>C ENST00000358241.1 - 2 907 c.479A>G c.(478-480)gAg>gGg p.E160G NM_001004312.2 NP_001004312.2 Q5QGT7 RTP2_HUMAN receptor (chemosensory) transporter protein 2 160 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding large_intestine(3)|lung(14)|skin(1) 18 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) AACGATGCCCTCCTGGCAGGC 0.667000 17 26 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41711255 41711255 + Missense_Mutation SNP G G T TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr21:41711255G>T ENST00000400454.1 - 7 1775 c.1298C>A c.(1297-1299)aCa>aAa p.T433K NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 433 Ig-like C2-type 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GGGCAAAGGTGTTCCCTTCAC 0.532000 11 27 0.000673444 0.00069406 1 1 0 WISP2 8839 broad.mit.edu 37 20 43353459 43353459 + Missense_Mutation SNP C C T TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr20:43353459C>T ENST00000372868.2 + 4 701 c.358C>T c.(358-360)Cgc>Tgc p.R120C WISP2_ENST00000372865.4_Intron|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000190983.4_Missense_Mutation_p.R120C|WISP2_ENST00000471629.1_3'UTR|RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA O76076 WISP2_HUMAN WNT1 inducible signaling pathway protein 2 120 VWFC. cell adhesion|cell-cell signaling|signal transduction extracellular region|soluble fraction insulin-like growth factor binding skin(1) 1 Myeloproliferative disorder(115;0.0122) CTGCAGCATCCGCTGCCGCTG 0.682000 9 13 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152651161 152651161 + Missense_Mutation SNP T T C TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr6:152651161T>C ENST00000367255.5 - 78 15260 c.14659A>G c.(14659-14661)Ata>Gta p.I4887V SYNE1_ENST00000423061.1_Missense_Mutation_p.I4816V|SYNE1_ENST00000448038.1_Missense_Mutation_p.I4816V|SYNE1_ENST00000265368.4_Missense_Mutation_p.I4887V|SYNE1_ENST00000341594.5_Missense_Mutation_p.I4634V NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4887 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGGAAGTCTATACTCTGCACC 0.542000 HNSCC(10;0.0054) 21 78 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22661208 22661208 + RNA SNP C C T TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr22:22661208C>T ENST00000426066.1 + 0 300 NR_027293.1 CTGAATCATGCAGAATTTGAA 0.408000 6 60 0 0 1 0 0 SLC38A10 124565 broad.mit.edu 37 17 79226015 79226015 + Missense_Mutation SNP G G A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr17:79226015G>A ENST00000374759.3 - 13 2308 c.1925C>T c.(1924-1926)cCc>cTc p.P642L SLC38A10_ENST00000288439.5_Missense_Mutation_p.P642L NM_001037984.1 NP_001033073.1 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 642 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GTCCTCTGCGGGCTGCCCTGT 0.697000 55 101 0 0 1 0 0 STAC 6769 broad.mit.edu 37 3 36524575 36524575 + Missense_Mutation SNP G G A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr3:36524575G>A ENST00000273183.3 + 3 780 c.480G>A c.(478-480)atG>atA p.M160I STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Intron NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 160 intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 AGCGGTGCATGGGCAAGCTGG 0.577000 9 30 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 36986127 36986127 + Missense_Mutation SNP A A G TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr5:36986127A>G ENST00000282516.8 + 10 3344 c.2845A>G c.(2845-2847)Agg>Ggg p.R949G NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.R949G NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 949 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GTTGGGGGGCAGGTCTGGTGC 0.398000 32 76 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720248 140720248 + Silent SNP C C T TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr5:140720248C>T ENST00000394576.2 + 1 1710 c.1710C>T c.(1708-1710)gaC>gaT p.D570D PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCCCACAGACGGTTCCACTG 0.642000 76 97 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120222864 120222864 + Missense_Mutation SNP A A G TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr12:120222864A>G ENST00000392521.2 - 11 1356 c.1301T>C c.(1300-1302)gTt>gCt p.V434A CIT_ENST00000261833.7_Missense_Mutation_p.V434A NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 434 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) ACCCGACACAACAGACCTAGG 0.463000 5 32 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101190244 101190244 + Silent SNP G G A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr1:101190244G>A ENST00000294728.2 + 4 827 c.726G>A c.(724-726)gtG>gtA p.V242V VCAM1_ENST00000370119.4_Silent_p.V180V|VCAM1_ENST00000347652.2_Silent_p.V242V|VCAM1_ENST00000370115.1_Silent_p.V242V NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 242 Ig-like C2-type 3. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) GTGGCTCTGTGACCATGACCT 0.418000 19 49 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262440 45262440 + Silent SNP G G C TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr5:45262440G>C ENST00000303230.4 - 8 2313 c.2256C>G c.(2254-2256)tcC>tcG p.S752S NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 752 Gln-rich. integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 GTGGCTGCGGGGACGgctgct 0.642000 12 33 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 7 49 0 0 1 0 0 ZNF564 163050 broad.mit.edu 37 19 12637897 12637897 + Missense_Mutation SNP C C G TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr19:12637897C>G ENST00000339282.7 - 4 1221 c.1025G>C c.(1024-1026)tGt>tCt p.C342S CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron NM_144976.3 NP_659413.1 zinc finger protein 564 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 GGTTTTACCACATTTATTACA 0.388000 19 68 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54542428 54542428 + Missense_Mutation SNP G G T TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr15:54542428G>T ENST00000545554.1 + 7 3234 c.3234G>T c.(3232-3234)atG>atT p.M1078I UNC13C_ENST00000537900.1_Missense_Mutation_p.M1076I|UNC13C_ENST00000260323.11_Missense_Mutation_p.M1078I Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1078 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CACAGAAAATGCACGTCTTCA 0.418000 5 22 5.9392e-07 6.6651e-07 1 1 0 BMS1P20 96610 broad.mit.edu 37 22 22661187 22661187 + RNA SNP G G A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr22:22661187G>A ENST00000426066.1 + 0 279 NR_027293.1 CCCCCACCCCGTCATGTACAG 0.413000 6 37 0 0 1 0 0 LRRC10 376132 broad.mit.edu 37 12 70003993 70003993 + Missense_Mutation SNP G G A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr12:70003993G>A ENST00000361484.3 - 1 949 c.626C>T c.(625-627)gCg>gTg p.A209V NM_201550.2 NP_963844.2 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 209 nucleus large_intestine(2)|lung(6) 8 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) TGACAGGTGCGCCAGGCTGGG 0.572000 13 58 0 0 1 0 0 C2CD3 26005 broad.mit.edu 37 11 73753183 73753183 + Missense_Mutation SNP A A C TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr11:73753183A>C ENST00000334126.7 - 29 5802 c.5576T>G c.(5575-5577)cTt>cGt p.L1859R C2CD3_ENST00000313663.7_Missense_Mutation_p.L1859R Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1859 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) CTCTCCCTGAAGATGCAGGGA 0.468000 7 61 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 53905881 53905881 + Missense_Mutation SNP A A C TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr15:53905881A>C ENST00000396328.1 - 16 3093 c.2854T>G c.(2854-2856)Tac>Gac p.Y952D WDR72_ENST00000559418.1_Missense_Mutation_p.Y962D|WDR72_ENST00000360509.5_Missense_Mutation_p.Y952D|WDR72_ENST00000557913.1_Missense_Mutation_p.Y949D NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 952 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) AAGCAACTGTAGAAGCTTGAC 0.333000 17 43 0 0 1 0 0 SPOCK2 9806 broad.mit.edu 37 10 73822656 73822656 + Silent SNP G G A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr10:73822656G>A ENST00000373109.2 - 11 1581 c.1137C>T c.(1135-1137)atC>atT p.I379I SPOCK2_ENST00000317376.4_Silent_p.I379I|SPOCK2_ENST00000536168.1_Silent_p.I379I NM_001244950.1 NP_001231879.1 Q92563 TICN2_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 379 extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly proteinaceous extracellular matrix calcium ion binding endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 AGAAGCCCACGATGTCATCTG 0.672000 6 13 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr17:7577120C>T ENST00000420246.2 - 8 950 c.818G>A c.(817-819)cGt>cAt p.R273H TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCACAAACACGCACCTCAAA 0.542000 R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 11 17 0 0 1 0 0 WDR90 197335 broad.mit.edu 37 16 711667 711667 + Silent SNP C C A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr16:711667C>A ENST00000549091.1 + 31 3836 c.3744C>A c.(3742-3744)ctC>ctA p.L1248L WDR90_ENST00000293879.4_Silent_p.L1248L NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 1248 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) CCACCCGCCTCCCGGAGCCGG 0.687000 9 46 0.000274275 0.00028856 1 1 0 KCNG2 26251 broad.mit.edu 37 18 77659548 77659548 + Missense_Mutation SNP G G A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr18:77659548G>A ENST00000316249.3 + 2 1133 c.1133G>A c.(1132-1134)cGc>cAc p.R378H KCNG2_ENST00000590307.1_3'UTR NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 378 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) ATGGTCCCGCGCAGCCTGCCC 0.687000 12 34 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12957134 12957134 + Silent SNP G G A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr8:12957134G>A ENST00000276297.4 - 9 3121 c.2712C>T c.(2710-2712)ccC>ccT p.P904P DLC1_ENST00000520226.1_Silent_p.P393P|DLC1_ENST00000512044.2_Silent_p.P501P|DLC1_ENST00000358919.2_Silent_p.P467P NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 904 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 CGTCCAGCTCGGGGAAGATGT 0.582000 5 25 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33765661 33765661 + Silent SNP G G A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr15:33765661G>A ENST00000389232.4 + 2 163 c.93G>A c.(91-93)aaG>aaA p.K31K RYR3_ENST00000415757.3_Silent_p.K31K NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 31 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CCATTCATAAGGAGCAGAGGA 0.567000 27 62 0 0 1 0 0 MST1L 11223 broad.mit.edu 37 1 17084459 17084459 + RNA SNP G G T TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr1:17084459G>T ENST00000455405.2 - 0 430 AGCAGGACAAGCTGGGAGCCT 0.597000 6 109 5.18039e-06 5.62602e-06 1 1 0 UFL1 23376 broad.mit.edu 37 6 96982156 96982156 + Missense_Mutation SNP C C T TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr6:96982156C>T ENST00000369278.4 + 7 680 c.614C>T c.(613-615)tCt>tTt p.S205F NM_015323.4 NP_056138.1 O94874 UFL1_HUMAN UFM1-specific ligase 1 205 Involved in CDK5RAP3-binding.|Required for E3 UFM1-protein ligase activity. negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity GCTGTGAATTCTTTGATTTCA 0.259000 4 29 0 0 1 0 0 KIAA0100 9703 broad.mit.edu 37 17 26955288 26955288 + Nonsense_Mutation SNP G G T TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr17:26955288G>T ENST00000528896.2 - 24 4663 c.4589C>A c.(4588-4590)tCa>tAa p.S1530* KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.S1387*|KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.S1387* NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 1530 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) CTTACCTCCTGATGACCCCTT 0.507000 8 68 0.0477658 0.0482434 1 1 0 PLAA 9373 broad.mit.edu 37 9 26910396 26910396 + Missense_Mutation SNP T T C TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr9:26910396T>C ENST00000397292.3 - 12 2014 c.1597A>G c.(1597-1599)Att>Gtt p.I533V PLAA_ENST00000520884.1_Missense_Mutation_p.I533V NM_001031689.2 NP_001026859.1 Q9Y263 PLAP_HUMAN phospholipase A2-activating protein 533 PUL. phospholipid metabolic process|signal transduction phospholipase A2 activator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 17 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011) GGGAAATAAATATTCATTGTT 0.313000 10 31 0 0 1 0 0 ZNF763 284390 broad.mit.edu 37 19 12089640 12089640 + Missense_Mutation SNP A A G TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr19:12089640A>G ENST00000343949.5 + 4 1065 c.910A>G c.(910-912)Ata>Gta p.I304V ZNF763_ENST00000358987.3_Missense_Mutation_p.I301V|ZNF763_ENST00000590798.1_Missense_Mutation_p.I321V|ZNF763_ENST00000545530.1_Missense_Mutation_p.I179V|ZNF763_ENST00000538752.1_Missense_Mutation_p.I321V NM_001012753.1 NP_001012771.1 zinc finger protein 763 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9) 15 TTCCTTTCAAATACATGAAAG 0.393000 12 36 0 0 1 0 0 MCF2 4168 broad.mit.edu 37 X 138711911 138711911 + Missense_Mutation SNP A A T TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chrX:138711911A>T ENST00000520602.1 - 7 846 c.561T>A c.(559-561)gaT>gaA p.D187E MCF2_ENST00000370573.4_Missense_Mutation_p.D127E|MCF2_ENST00000370576.4_Missense_Mutation_p.D127E|MCF2_ENST00000536274.1_Missense_Mutation_p.D88E|MCF2_ENST00000370578.4_Missense_Mutation_p.D272E|MCF2_ENST00000519895.1_Missense_Mutation_p.D187E|MCF2_ENST00000338585.6_Missense_Mutation_p.D127E|MCF2_ENST00000414978.1_Missense_Mutation_p.D187E P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 127 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) TTGAGGGAATATCATCTGGTA 0.398000 48 52 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215606 20215606 + Missense_Mutation SNP C C T TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr14:20215606C>T ENST00000331723.1 + 1 20 c.20C>T c.(19-21)tCt>tTt p.S7F NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GAACAAGATTCTAATGTGACA 0.333000 13 120 0 0 1 0 0 ENDOD1 23052 broad.mit.edu 37 11 94862701 94862701 + Silent SNP G G T TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr11:94862701G>T ENST00000278505.4 + 2 1579 c.1461G>T c.(1459-1461)cgG>cgT p.R487R NM_015036.2 NP_055851.1 O94919 ENDD1_HUMAN endonuclease domain containing 1 487 extracellular region endonuclease activity|metal ion binding|nucleic acid binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824) TCTGCAAGCGGATTGGCTACA 0.433000 11 53 1.58986e-06 1.76457e-06 1 1 0 CYP2D7 1564 broad.mit.edu 37 22 42539549 42539549 + RNA SNP G G A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr22:42539549G>A ENST00000424775.1 - 0 290 CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA endometrium(1) 1 CAGGCCAGCTGCAGGCTGAAC 0.701000 4 11 0 0 1 0 0 JRKL 8690 broad.mit.edu 37 11 96125155 96125155 + Missense_Mutation SNP G G A rs148141652 TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr11:96125155G>A ENST00000458427.1 + 1 1998 c.1342G>A c.(1342-1344)Gaa>Aaa p.E448K JRKL_ENST00000546177.1_Intron|JRKL_ENST00000332349.4_Missense_Mutation_p.E448K NM_003772.3 NP_003763.2 Q9Y4A0 JERKL_HUMAN jerky homolog-like (mouse) 448 central nervous system development|regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) BRCA - Breast invasive adenocarcinoma(274;0.148) AACTGATAGCGAAATCATCAG 0.408000 16 35 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113277717 113277717 + Missense_Mutation SNP G G A rs144899938 byFrequency TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr8:113277717G>A ENST00000297405.5 - 60 9855 c.9611C>T c.(9610-9612)aCg>aTg p.T3204M CSMD3_ENST00000352409.3_Missense_Mutation_p.T3134M|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3164M|CSMD3_ENST00000455883.2_Missense_Mutation_p.T3035M NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3204 Sushi 24. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CAATTCCATCGTGTAGCCTGG 0.423000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 30 94 0 0 1 0 0 TTC12 54970 broad.mit.edu 37 11 113211391 113211391 + Missense_Mutation SNP G G C TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr11:113211391G>C ENST00000393020.1 + 11 1237 c.832G>C c.(832-834)Gaa>Caa p.E278Q TTC12_ENST00000314756.3_Missense_Mutation_p.E278Q|TTC12_ENST00000529221.1_Missense_Mutation_p.E278Q|TTC12_ENST00000483239.2_Missense_Mutation_p.E284Q Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 278 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) TTCAGGCACAGAACAAACTTT 0.443000 9 33 0 0 1 0 0 TBC1D2 55357 broad.mit.edu 37 9 101017691 101017691 + Missense_Mutation SNP G G A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr9:101017691G>A ENST00000375066.5 - 1 224 c.133C>T c.(133-135)Ccc>Tcc p.P45S TBC1D2_ENST00000342112.5_5'UTR|TBC1D2_ENST00000375064.1_Missense_Mutation_p.P45S NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 45 Interaction with CADH1.|PH. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) AGTTTCTTGGGGACCGCCTCC 0.612000 4 58 0 0 1 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147192 26147192 + Nonsense_Mutation SNP C C T TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr16:26147192C>T ENST00000331351.5 + 2 1386 c.994C>T c.(994-996)Cga>Tga p.R332* HS3ST4_ENST00000475436.1_3'UTR NM_006040.2 NP_006031.2 Q9Y661 HS3S4_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 4 332 heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) GAGTGCCATTCGAATAGGGAT 0.552000 40 150 0 0 1 0 0 LRRC66 339977 broad.mit.edu 37 4 52860601 52860601 + Missense_Mutation SNP G G T TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr4:52860601G>T ENST00000343457.3 - 4 2593 c.2587C>A c.(2587-2589)Ccc>Acc p.P863T NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 863 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 GGATCTGAGGGAACTTCAGCA 0.378000 19 61 1.37522e-17 1.63409e-17 1 1 0 DBT 1629 broad.mit.edu 37 1 100684182 100684182 + Splice_Site SNP A A G TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr1:100684182A>G ENST00000370132.3 - 5 568 c.555_splice c.e5+1 p.N185_splice DBT_ENST00000370131.3_Splice_Site_p.N185_splice NM_001918.3 NP_001909.3 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase E2 185 branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1) 19 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) GAGAACTTACATTGTTTTCCA 0.388000 21 98 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72975038 72975038 + Missense_Mutation SNP A A C TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr8:72975038A>C ENST00000262209.4 - 6 1010 c.803T>G c.(802-804)gTg>gGg p.V268G NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 268 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) AGTTACCTCCACTGGGTCTAT 0.358000 21 44 0 0 1 0 0 SLC24A3 57419 broad.mit.edu 37 20 19679321 19679321 + Silent SNP C C A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr20:19679321C>A ENST00000328041.6 + 15 1913 c.1716C>A c.(1714-1716)tcC>tcA p.S572S NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 572 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 ATTACGGATCCTACGTAAGTG 0.537000 3 9 0.115264 0.115264 1 1 0 TMEM69 51249 broad.mit.edu 37 1 46158947 46158947 + Frame_Shift_Del DEL C C - TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr1:46158947delC ENST00000372025.4 + 3 1271 c.114delC c.(112-114)ctfs p.L38fs TMEM69_ENST00000496366.1_3'UTR NM_016486.3 NP_057570.2 Q5SWH9 TMM69_HUMAN transmembrane protein 69 38 integral to membrane kidney(3)|lung(4)|ovary(1) 8 Acute lymphoblastic leukemia(166;0.155) AGATGTCTCTCCAGCAAAACT 0.423 7 330 --- --- --- --- MRPL37 51253 broad.mit.edu 37 1 54665941 54665950 + Frame_Shift_Del DEL AGGCGGGCGC AGGCGGGCGC - TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr1:54665941_54665950delAGGCGGGCGC ENST00000605337.1 + 1 73_82 c.25_34delAGGCGGGCGC c.(25-36)tafs p.RRAL9fs MRPL37_ENST00000487096.1_Intron|MRPL37_ENST00000360840.5_Frame_Shift_Del_p.RRAL9fs|MRPL37_ENST00000336230.6_5'UTR Q9BZE1 RM37_HUMAN mitochondrial ribosomal protein L37 9 translation mitochondrial ribosome structural constituent of ribosome p.L12I(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2) 19 CGGGCCCGCAAGGCGGGCGCTAGCTGGCTC 0.705 18 106 --- --- --- --- MYO16 23026 broad.mit.edu 37 13 109707832 109707838 + Frame_Shift_Del DEL TTGATAA TTGATAA - TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr13:109707832_109707838delTTGATAA ENST00000356711.2 + 27 3284_3290 c.3158_3164delTTGATAA c.(3157-3165)ttfs p.FDN1053fs MYO16_ENST00000457511.2_Frame_Shift_Del_p.FDN565fs|MYO16_ENST00000357550.2_Frame_Shift_Del_p.FDN1053fs NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 1053 Myosin head-like 2. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CCAGATACTTTTGATAATTTTTACGTG 0.415 14 69 --- --- --- --- AJUBA 84962 broad.mit.edu 37 14 23450598 23450599 + Frame_Shift_Ins INS - - A TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr14:23450598_23450599insA ENST00000262713.2 - 1 1252_1253 c.877_878insT c.(877-879)agafs p.R293fs AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.R293fs|RP11-298I3.5_ENST00000555074.1_Intron NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein 293 PreLIM. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding TCCGGCTTCTCGCCCACCGGTG 0.708 10 22 --- --- --- --- TBC1D3P2 440452 broad.mit.edu 37 17 60347260 60347260 + RNA DEL T T - rs71816198 TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr17:60347260delT ENST00000581291.1 - 0 581 breast(2)|kidney(1)|lung(2) 5 CTCTGAATGATTTTTTTTTTT 0.448 3 6 --- --- --- --- REXO1 57455 broad.mit.edu 37 19 1827021 1827023 + In_Frame_Del DEL GGA GGA - TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr19:1827021_1827023delGGA ENST00000170168.4 - 2 1859_1861 c.1765_1767delTCC c.(1765-1767)del p.S589del NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 589 Ser-rich. nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|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) CGCTggaggtggaggaggaggag 0.700 2 4 --- --- --- --- ZNF579 163033 broad.mit.edu 37 19 56089908 56089909 + In_Frame_Ins INS - - CCG rs141478862 by1000genomes TCGA-CV-A460-01A-21D-A25D-08 TCGA-CV-A460-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4b4191-9827-433a-94ea-7e51d6b80c14 ef5a907a-45d4-404d-8a88-c4b6f6e932bd g.chr19:56089908_56089909insCCG ENST00000325421.4 - 2 1125_1126 c.1097_1098insCGG c.(1096-1098)gca>gCGGca p.366_366A>AA NM_152600.2 NP_689813.2 Q8NAF0 ZN579_HUMAN zinc finger protein 579 366 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G366_Q367insG(1) endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.106) CTCCGTTCTGCCCTTCTCCCCC 0.748 4 2 --- --- --- ---