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 FRG1B 0 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 6 81 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 68535239 68535239 + Missense_Mutation SNP T T C TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr10:68535239T>C ENST00000433211.1 - 8 1265 c.1091A>G c.(1090-1092)gAc>gGc p.D364G CTNNA3_ENST00000373744.4_Missense_Mutation_p.D364G|CTNNA3_ENST00000494580.1_5'UTR NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 364 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 ACACATGTTGTCTAAAGCAAT 0.378000 52 78 0 0 1 0 0 SCNN1G 6340 broad.mit.edu 37 16 23197720 23197720 + Missense_Mutation SNP G G A TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr16:23197720G>A ENST00000300061.2 + 2 271 c.128G>A c.(127-129)cGc>cAc p.R43H NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 43 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) GGCTGTCGCCGCATCGTGGTG 0.627000 3 36 0 0 1 0 0 EEF1A2 1917 broad.mit.edu 37 20 62120282 62120282 + Missense_Mutation SNP T T G TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr20:62120282T>G ENST00000217182.3 - 7 1418 c.1253A>C c.(1252-1254)tAc>tCc p.Y418S EEF1A2_ENST00000298049.7_Missense_Mutation_p.Y418S NM_001958.3 NP_001949.1 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 2 418 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity p.Y418S(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) GAGAGGCGGGTACTGGGAGAA 0.667000 11 12 0 0 1 0 0 SUSD4 55061 broad.mit.edu 37 1 223536659 223536659 + Nonsense_Mutation SNP G G A TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr1:223536659G>A ENST00000343846.3 - 1 742 c.109C>T c.(109-111)Cag>Tag p.Q37* SUSD4_ENST00000366878.4_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000366877.3_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000344029.6_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000342943.3_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_5'UTR Q5VX71 SUSD4_HUMAN sushi domain containing 4 37 integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) AGCGCCAGCTGAAACCACAGG 0.617000 3 2 0 0 1 0 0 GPR173 54328 broad.mit.edu 37 X 53105924 53105924 + Missense_Mutation SNP G G A TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chrX:53105924G>A ENST00000332582.4 + 2 612 c.121G>A c.(121-123)Gcc>Acc p.A41T NM_018969.5 NP_061842.1 Q9NS66 GP173_HUMAN G protein-coupled receptor 173 41 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1) 16 GGCGGGTAACGCCATCTTGTC 0.612000 3 46 0 0 1 0 0 HIST1H4K 8362 broad.mit.edu 37 6 27799001 27799001 + Missense_Mutation SNP C C T TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr6:27799001C>T ENST00000357549.2 - 1 304 c.305G>A c.(304-306)gGt>gAt p.G102D NM_003541.2 NP_003532.1 P62805 H4_HUMAN histone cluster 1, H4k 102 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1) 7 CGCTCAACCACCGAAACCGTA 0.572000 13 26 0 0 1 0 0 GDPD2 54857 broad.mit.edu 37 X 69645908 69645908 + Missense_Mutation SNP G G A TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chrX:69645908G>A ENST00000453994.2 + 5 671 c.310G>A c.(310-312)Gcc>Acc p.A104T GDPD2_ENST00000538649.1_Missense_Mutation_p.A25T|GDPD2_ENST00000536730.1_Missense_Mutation_p.A25T|GDPD2_ENST00000374382.3_Missense_Mutation_p.A104T|GDPD2_ENST00000472623.1_3'UTR NM_001171192.1 NP_001164663.1 Q9HCC8 GDPD2_HUMAN glycerophosphodiester phosphodiesterase domain containing 2 104 glycerol metabolic process|lipid metabolic process cytoplasm|cytoskeleton|integral to membrane|plasma membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2) 22 Renal(35;0.156) CTAGGTCCTGGCCCTGCTCCT 0.607000 20 20 0 0 1 0 0 HSD17B2 3294 broad.mit.edu 37 16 82104725 82104725 + Silent SNP C C T TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr16:82104725C>T ENST00000199936.4 + 3 850 c.657C>T c.(655-657)agC>agT p.S219S RP11-510J16.5_ENST00000567021.1_RNA NM_002153.2 NP_002144.1 P37059 DHB2_HUMAN hydroxysteroid (17-beta) dehydrogenase 2 219 response to retinoic acid|steroid biosynthetic process endoplasmic reticulum membrane|integral to membrane 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 NADH(DB00157) ATGTCAGCAGCATGGGAGGTG 0.488000 5 48 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150842518 150842518 + Missense_Mutation SNP A A G TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chrX:150842518A>G ENST00000370357.4 + 15 2280 c.2035A>G c.(2035-2037)Acc>Gcc p.T679A NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 679 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) TTCAGACTCAACCATAAGCAC 0.498000 35 47 0 0 1 0 0 URB2 9816 broad.mit.edu 37 1 229770818 229770818 + Missense_Mutation SNP T T A TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr1:229770818T>A ENST00000258243.2 + 4 594 c.458T>A c.(457-459)cTt>cAt p.L153H NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 153 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 CTGAGCCAGCTTTGCTGGTCG 0.587000 9 47 0 0 1 0 0 FAM193B 54540 broad.mit.edu 37 5 176951816 176951816 + Missense_Mutation SNP G G C TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr5:176951816G>C ENST00000329540.5 - 9 3373 c.544C>G c.(544-546)Cca>Gca p.P182A FAM193B_ENST00000514747.1_Missense_Mutation_p.P556A|FAM193B_ENST00000443375.2_Missense_Mutation_p.P523A Q6IPW0 Q6IPW0_HUMAN family with sequence similarity 193, member B 232 kidney(1)|large_intestine(3) 4 TCTGCCCATGGTGGGGCTGGC 0.622000 7 7 0 0 1 0 0 TEC 7006 broad.mit.edu 37 4 48173436 48173436 + Missense_Mutation SNP A A G TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr4:48173436A>G ENST00000381501.3 - 4 431 c.274T>C c.(274-276)Ttt>Ctt p.F92L NM_003215.2 NP_003206.2 P42680 TEC_HUMAN tec protein tyrosine kinase 92 PH. intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 CTAGGTGCAAAAATGTAAAGT 0.363000 23 35 0 0 1 0 0 NEURL4 84461 broad.mit.edu 37 17 7226076 7226076 + Silent SNP C C T rs35849202 TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr17:7226076C>T ENST00000399464.2 - 16 2718 c.2703G>A c.(2701-2703)aaG>aaA p.K901K NEURL4_ENST00000570460.1_Silent_p.K877K|NEURL4_ENST00000315614.7_Silent_p.K899K NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GTGGGAAGGACTTCTCGGTGG 0.622000 9 72 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37029164 37029164 + Missense_Mutation SNP C C T TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chrX:37029164C>T ENST00000358047.3 + 1 2733 c.2681C>T c.(2680-2682)tCc>tTc p.S894F NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 894 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 AACGAGTGTTCCTCAGGGCTG 0.438000 4 115 0 0 1 0 0 FLCN 201163 broad.mit.edu 37 17 17119748 17119748 + Missense_Mutation SNP T T C TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr17:17119748T>C ENST00000285071.4 - 11 1700 c.1246A>G c.(1246-1248)Aac>Gac p.N416D RP11-45M22.4_ENST00000427497.3_3'UTR NM_144997.5 NP_659434.2 Q8NFG4 FLCN_HUMAN folliculin 416 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 CCCAGGAAGTTGCACCGATAG 0.662000 Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome 3 11 0 0 1 0 0 ACCS 84680 broad.mit.edu 37 11 44098861 44098861 + Missense_Mutation SNP G G A TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr11:44098861G>A ENST00000263776.8 + 7 1023 c.589G>A c.(589-591)Gct>Act p.A197T ACCS_ENST00000432284.2_3'UTR|ACCS_ENST00000533208.1_Intron NM_001127219.1|NM_032592.3 NP_001120691.1|NP_115981.1 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) 197 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups p.A197T(1) breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1) 35 TTACTATGGCGCTATCACACA 0.582000 17 114 0 0 1 0 0 UNC5C 8633 broad.mit.edu 37 4 96124101 96124101 + Silent SNP G G A TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr4:96124101G>A ENST00000453304.1 - 12 2265 c.1917C>T c.(1915-1917)gtC>gtT p.V639V NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 639 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TTTCCTCCCCGACCACCACCA 0.592000 4 29 0 0 1 0 0 PDCD11 22984 broad.mit.edu 37 10 105202012 105202012 + Missense_Mutation SNP G G A TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr10:105202012G>A ENST00000369797.3 + 32 4844 c.4750G>A c.(4750-4752)Gca>Aca p.A1584T NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 1584 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) GAAGCAGAAGGCAGAGAAGGA 0.547000 3 58 0 0 1 0 0 CDH19 28513 broad.mit.edu 37 18 64197119 64197119 + Missense_Mutation SNP T T C TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr18:64197119T>C ENST00000262150.2 - 9 1713 c.1421A>G c.(1420-1422)tAt>tGt p.Y474C CDH19_ENST00000540086.1_Missense_Mutation_p.Y474C NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 474 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) ATAAGTCTCATAGTATTGAGA 0.323000 3 72 0 0 1 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52130494 52130494 + Silent SNP C C T TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr19:52130494C>T ENST00000222107.4 - 7 1428 c.1290G>A c.(1288-1290)tcG>tcA p.S430S SIGLEC5_ENST00000570106.2_Silent_p.S430S|SIGLEC5_ENST00000534261.2_Silent_p.S430S|SIGLEC5_ENST00000599649.1_Silent_p.S430S|SIGLEC5_ENST00000429354.3_Silent_p.S430S O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 430 cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) TCCCGAGGTTCGATCTCCCTG 0.557000 3 24 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 20 36 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9049830 9049830 + Missense_Mutation SNP T T A TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr19:9049830T>A ENST00000397910.4 - 5 32004 c.31801A>T c.(31801-31803)Atc>Ttc p.I10601F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10603 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCAGGATGGATAACCCATGAA 0.483000 28 48 0 0 1 0 0 SRBD1 55133 broad.mit.edu 37 2 45807076 45807076 + Missense_Mutation SNP C C T TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr2:45807076C>T ENST00000263736.4 - 7 1072 c.1010G>A c.(1009-1011)aGg>aAg p.R337K NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 337 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) AAGCAGTGCCCTGGCTGCTCC 0.438000 14 129 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38812790 38812790 + Silent SNP A A G TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr3:38812790A>G ENST00000449082.2 - 4 578 c.579T>C c.(577-579)gaT>gaC p.D193D NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 193 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGACGCTAAAATCCAGCCAGT 0.448000 25 40 0 0 1 0 0 CRIM1 51232 broad.mit.edu 37 2 36737265 36737265 + Silent SNP T T C TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr2:36737265T>C ENST00000280527.2 + 9 2008 c.1641T>C c.(1639-1641)taT>taC p.Y547Y NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 547 Antistasin-like 3. nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) GTGACAAGTATTGTCCACTTG 0.403000 6 60 0 0 1 0 0 SIRT5 23408 broad.mit.edu 37 6 13584419 13584419 + Missense_Mutation SNP G G A rs35634029 TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr6:13584419G>A ENST00000606117.1 + 3 373 c.77G>A c.(76-78)cGa>cAa p.R26Q SIRT5_ENST00000379262.4_Missense_Mutation_p.R26Q|SIRT5_ENST00000397350.2_5'UTR|SIRT5_ENST00000359782.3_Missense_Mutation_p.R26Q NM_012241.4 NP_036373.1 Q9NXA8 SIRT5_HUMAN sirtuin 5 26 chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial intermembrane space|mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 11 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.176) Suramin(DB04786) GCGTCCACACGAAACCAGATT 0.478000 15 29 0 0 1 0 0 ZBTB2 57621 broad.mit.edu 37 6 151687324 151687324 + Silent SNP G G A TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr6:151687324G>A ENST00000325144.4 - 3 1017 c.877C>T c.(877-879)Ctg>Ttg p.L293L NM_020861.1 NP_065912.1 Q8N680 ZBTB2_HUMAN zinc finger and BTB domain containing 2 293 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) CAGAGAGTCAGGGGGACGCGA 0.547000 14 76 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179562904 179562904 + Missense_Mutation SNP C C T TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr1:179562904C>T ENST00000444136.1 + 3 792 c.542C>T c.(541-543)gCg>gTg p.A181V TDRD5_ENST00000367614.1_Missense_Mutation_p.A181V|TDRD5_ENST00000294848.8_Missense_Mutation_p.A181V NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 181 Lotus/OST-HTH 2. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 GTGCTTAATGCGGCTTCAGAT 0.408000 3 70 0 0 1 0 0 IMMT 10989 broad.mit.edu 37 2 86398455 86398455 + Silent SNP C C T TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr2:86398455C>T ENST00000410111.3 - 5 822 c.435G>A c.(433-435)gcG>gcA p.A145A IMMT_ENST00000409051.2_Intron|IMMT_ENST00000442664.2_Silent_p.A145A|IMMT_ENST00000254636.5_Intron|IMMT_ENST00000449247.2_Intron NM_001100169.1|NM_001100170.1|NM_006839.2 NP_001093639.1|NP_001093640.1|NP_006830.2 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial 145 EAAQIISA -> ARAPASLT (in Ref. 9; AAF73126). integral to mitochondrial inner membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TAATTTGAGCCGCTTCTGTAG 0.433000 4 11 0 0 1 0 0 DAPK1 1612 broad.mit.edu 37 9 90252944 90252944 + Missense_Mutation SNP T T A TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr9:90252944T>A ENST00000469640.2 + 4 746 c.371T>A c.(370-372)cTt>cAt p.L124H DAPK1_ENST00000408954.3_Missense_Mutation_p.L124H|DAPK1_ENST00000491893.1_Missense_Mutation_p.L124H|DAPK1_ENST00000472284.1_Missense_Mutation_p.L124H|DAPK1_ENST00000358077.5_Missense_Mutation_p.L124H P53355 DAPK1_HUMAN death-associated protein kinase 1 124 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 AAACAAATTCTTAATGGTGTT 0.433000 Chronic Lymphocytic Leukemia, Familial Clustering of 5 57 0 0 1 0 0 OR12D2 26529 broad.mit.edu 37 6 29365261 29365261 + Missense_Mutation SNP C C T rs150705301 byFrequency TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr6:29365261C>T ENST00000383555.2 + 1 846 c.785C>T c.(784-786)gCg>gTg p.A262V OR5V1_ENST00000377154.1_Intron NM_013936.3 NP_039224.2 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene) 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 31 ATCCATCCTGCGTTAGAGAGC 0.448000 10 114 0 0 1 0 0 SSX6 0 broad.mit.edu 37 X 47976486 47976486 + Silent SNP G G A rs144718875 byFrequency TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chrX:47976486G>A ENST00000319275.3 + 6 495 c.129G>A c.(127-129)ccG>ccA p.P43P SSX6_ENST00000376932.2_Silent_p.P141P p.P141P(1) large_intestine(6)|lung(4)|skin(2)|stomach(1) 13 AGCTGTGCCCGCCGGGAAAAG 0.512000 13 180 0 0 1 0 0 PIGA 5277 broad.mit.edu 37 X 15342872 15342872 + Nonsense_Mutation SNP G G C TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chrX:15342872G>C ENST00000333590.4 - 5 1187 c.1103C>G c.(1102-1104)tCa>tGa p.S368* PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000542278.1_Nonsense_Mutation_p.S134*|PIGA_ENST00000428964.1_Nonsense_Mutation_p.S53* NM_002641.3 NP_002632.1 P37287 PIGA_HUMAN phosphatidylinositol glycan anchor biosynthesis, class A 368 C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1) 10 Hepatocellular(33;0.183) CAATGTCCCTGACTTCAGTTG 0.398000 15 131 0 0 1 0 0 ZBTB2 57621 broad.mit.edu 37 6 151686867 151686867 + Missense_Mutation SNP T T C TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr6:151686867T>C ENST00000325144.4 - 3 1474 c.1334A>G c.(1333-1335)aAc>aGc p.N445S NM_020861.1 NP_065912.1 Q8N680 ZBTB2_HUMAN zinc finger and BTB domain containing 2 445 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) GTAGGGTTTGTTTGTTTGCAC 0.443000 3 57 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 5 69 0 0 1 0 0 IGHG2 0 broad.mit.edu 37 14 106110177 106110177 + RNA SNP G G C TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr14:106110177G>C ENST00000390545.2 - 0 440 CGGGGTCTTCGTGGCTCACGT 0.602000 4 144 0 0 1 0 0 ZNF433 163059 broad.mit.edu 37 19 12126626 12126626 + Silent SNP G G A TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr19:12126626G>A ENST00000419886.2 - 5 1242 c.951C>T c.(949-951)agC>agT p.S317S CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000344980.6_Silent_p.S352S Q8N7K0 ZN433_HUMAN zinc finger protein 433 352 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1) 14 GGTTTTGAAAGCTGGTAAGAT 0.383000 3 51 0 0 1 0 0 TBCC 6903 broad.mit.edu 37 6 42713776 42713776 + Missense_Mutation SNP C C A TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr6:42713776C>A ENST00000244625.2 - 2 599 c.36G>T c.(34-36)agG>agT p.R12S TBCC_ENST00000372876.1_Missense_Mutation_p.R12S Q15814 TBCC_HUMAN tubulin folding cofactor C 12 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|photoreceptor connecting cilium chaperone binding|GTPase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3) 14 Colorectal(47;0.196) all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125) TGTCTCCGGTCCTGACAGCAG 0.597000 14 29 2.61681e-11 2.67249e-11 1 1 0 TP53 7157 broad.mit.edu 37 17 7578496 7578496 + Missense_Mutation SNP A A G TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr17:7578496A>G ENST00000420246.2 - 5 566 c.434T>C c.(433-435)cTg>cCg p.L145P TP53_ENST00000269305.4_Missense_Mutation_p.L145P|TP53_ENST00000359597.4_Missense_Mutation_p.L145P|TP53_ENST00000445888.2_Missense_Mutation_p.L145P|TP53_ENST00000455263.2_Missense_Mutation_p.L145P|TP53_ENST00000413465.2_Missense_Mutation_p.L145P NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 145 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. L -> M (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.L145Q(17)|p.L145P(17)|p.0?(8)|p.L145R(7)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*25(1)|p.W146fs*22(1)|p.L145del(1)|p.V143_S149del(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) ATCAACCCACAGCTGCACAGG 0.602000 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) 33 4 0 0 1 0 0 HIP1 3092 broad.mit.edu 37 7 75172231 75172231 + Missense_Mutation SNP G G T TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr7:75172231G>T ENST00000336926.6 - 28 2855 c.2829C>A c.(2827-2829)aaC>aaA p.N943K HIP1_ENST00000434438.2_Missense_Mutation_p.N892K NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 943 I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CAGTGGCCTGGTTCACTCCCC 0.542000 T PDGFRB CMML 5 50 0.014758 0.014758 1 1 0 CFB 629 broad.mit.edu 37 6 31901429 31901429 + Missense_Mutation SNP G G A TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr6:31901429G>A ENST00000456570.1 + 3 354 c.299G>A c.(298-300)cGg>cAg p.R100Q C2_ENST00000452323.2_Missense_Mutation_p.R39Q|C2_ENST00000469372.1_5'UTR|C2_ENST00000299367.5_Missense_Mutation_p.R162Q|C2_ENST00000442278.2_Missense_Mutation_p.R30Q|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Missense_Mutation_p.R100Q|C2_ENST00000418949.2_Missense_Mutation_p.R162Q P00751 CFAB_HUMAN complement factor B 176 Sushi 1. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 GGCGCAGTGCGGACAGGCTTC 0.632000 14 12 0 0 1 0 0 CTSG 1511 broad.mit.edu 37 14 25043625 25043625 + Silent SNP C C T TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr14:25043625C>T ENST00000216336.2 - 4 456 c.420G>A c.(418-420)acG>acA p.T140T NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 140 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity p.T140T(1) autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) CAGTGCACAGCGTCCCGGGTC 0.612000 3 54 0 0 1 0 0 IAPP 3375 broad.mit.edu 37 12 21531254 21531254 + Missense_Mutation SNP A A G TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr12:21531254A>G ENST00000240652.3 + 3 300 c.164A>G c.(163-165)aAc>aGc p.N55S IAPP_ENST00000539393.1_Missense_Mutation_p.N55S|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000537524.1_Intron|IAPP_ENST00000542023.1_3'UTR|SLCO1A2_ENST00000307378.6_Intron NM_000415.2 NP_000406.1 P10997 IAPP_HUMAN islet amyloid polypeptide 55 apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction extracellular region|soluble fraction hormone activity lung(3) 3 Perindopril(DB00790) TCCAGCAACAACTTTGGTGCC 0.453000 28 54 0 0 1 0 0 RP11-571L19.7 0 broad.mit.edu 37 4 99877753 99877754 + RNA DEL AA AA - rs33952764 TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr4:99877753_99877754delAA ENST00000583654.1 + 0 237 actctgtctcaaaaaaaaaaaa 0.450 2 4 --- --- --- --- TRBV7-3 0 broad.mit.edu 37 7 142247456 142247457 + RNA DEL CA CA - TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr7:142247456_142247457delCA ENST00000390361.3 - 0 99 TTGTACTCATcacacacacaca 0.545 7 136 --- --- --- --- PIH1D2 120379 broad.mit.edu 37 11 111934916 111934916 + Frame_Shift_Del DEL T T - TCGA-RY-A845-01A-11D-A36O-08 TCGA-RY-A845-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53c8982e-804e-4764-a72a-d8707bc9ce56 51047352-2d68-4cf2-8c7d-8840010175ca g.chr11:111934916delT ENST00000431456.1 - 6 1065 c.843delA c.(841-843)aafs p.K281fs DLAT_ENST00000393051.1_3'UTR|DLAT_ENST00000280346.6_3'UTR|PIH1D2_ENST00000528775.1_Frame_Shift_Del_p.K281fs NM_001082619.1 NP_001076088.1 Q8WWB5 PIHD2_HUMAN PIH1 domain containing 2 0 endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 11 all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508) ATAATTCATCTTTCGCTAATG 0.313 2 4 --- --- --- ---