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 MYO1A 4640 broad.mit.edu 37 12 57423554 57423554 + Silent SNP G G A TCGA-HT-7877-01A-11D-2395-08 TCGA-HT-7877-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6dc115c-4c2c-4f45-bc8b-09bb9562cdce 44355458-1ec3-4e6b-bae8-e1a7642e03ce g.chr12:57423554G>A ENST00000442789.2 - 26 2981 c.2694C>T c.(2692-2694)gcC>gcT p.A898A MYO1A_ENST00000300119.3_Silent_p.A898A|MYO1A_ENST00000544473.1_Silent_p.A736A NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 898 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 CCTTCTTCACGGCCTCTGCCA 0.587000 14 180 0 0 1 0 0 GPR25 2848 broad.mit.edu 37 1 200842872 200842872 + Missense_Mutation SNP G G T TCGA-HT-7877-01A-11D-2395-08 TCGA-HT-7877-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6dc115c-4c2c-4f45-bc8b-09bb9562cdce 44355458-1ec3-4e6b-bae8-e1a7642e03ce g.chr1:200842872G>T ENST00000304244.2 + 1 790 c.707G>T c.(706-708)gGt>gTt p.G236V NM_005298.2 NP_005289.2 O00155 GPR25_HUMAN G protein-coupled receptor 25 236 integral to plasma membrane large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 CCGCACGTGGGTCGGGCCCGG 0.682000 6 95 0.0293803 0.0303935 1 1 0 VPS25 84313 broad.mit.edu 37 17 40926665 40926665 + Splice_Site SNP A A G TCGA-HT-7877-01A-11D-2395-08 TCGA-HT-7877-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6dc115c-4c2c-4f45-bc8b-09bb9562cdce 44355458-1ec3-4e6b-bae8-e1a7642e03ce g.chr17:40926665A>G ENST00000253794.2 + 3 241 c.199_splice c.e3-1 p.R67_splice NM_032353.2 NP_115729.1 Q9BRG1 VPS25_HUMAN vacuolar protein sorting 25 homolog (S. cerevisiae) 67 cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endosome membrane|nucleoplasm breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1) 5 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) TTAAACCAGGAAAGCTTCCTG 0.453000 7 22 0 0 1 0 0 PER1 5187 broad.mit.edu 37 17 8047060 8047060 + Missense_Mutation SNP T T G TCGA-HT-7877-01A-11D-2395-08 TCGA-HT-7877-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6dc115c-4c2c-4f45-bc8b-09bb9562cdce 44355458-1ec3-4e6b-bae8-e1a7642e03ce g.chr17:8047060T>G ENST00000317276.4 - 19 2833 c.2596A>C c.(2596-2598)Acc>Ccc p.T866P PER1_ENST00000578089.1_5'UTR|PER1_ENST00000581082.1_Missense_Mutation_p.T843P NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 866 Pro-rich. circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity p.T866P(1) breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GGCCAGGGGGTGGAGGGTGGC 0.667000 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 6 21 0 0 1 0 0 AARS2 57505 broad.mit.edu 37 6 44270856 44270856 + Silent SNP C C T TCGA-HT-7877-01A-11D-2395-08 TCGA-HT-7877-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6dc115c-4c2c-4f45-bc8b-09bb9562cdce 44355458-1ec3-4e6b-bae8-e1a7642e03ce g.chr6:44270856C>T ENST00000244571.4 - 16 2204 c.2202G>A c.(2200-2202)ttG>ttA p.L734L TMEM151B_ENST00000438774.2_Intron NM_020745.3 NP_065796.1 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 734 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) AGGCTGGGTCCAATGCATGGG 0.627000 6 83 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-7877-01A-11D-2395-08 TCGA-HT-7877-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6dc115c-4c2c-4f45-bc8b-09bb9562cdce 44355458-1ec3-4e6b-bae8-e1a7642e03ce 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 21 24 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791715 42791715 + Missense_Mutation SNP C C T TCGA-HT-7877-01A-11D-2395-08 TCGA-HT-7877-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6dc115c-4c2c-4f45-bc8b-09bb9562cdce 44355458-1ec3-4e6b-bae8-e1a7642e03ce g.chr19:42791715C>T ENST00000572681.2 + 6 3396 c.3328C>T c.(3328-3330)Cgg>Tgg p.R1110W CIC_ENST00000575354.2_Missense_Mutation_p.R201W|CIC_ENST00000160740.3_Missense_Mutation_p.R201W Q96RK0 CIC_HUMAN capicua transcriptional repressor 201 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.R201W(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GGACCACATCCGGCGGCCCAT 0.622000 """Mis, F, S""" oligodendroglioma 18 77 0 0 1 0 0 RAB33A 9363 broad.mit.edu 37 X 129306042 129306042 + Silent SNP G G A TCGA-HT-7877-01A-11D-2395-08 TCGA-HT-7877-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6dc115c-4c2c-4f45-bc8b-09bb9562cdce 44355458-1ec3-4e6b-bae8-e1a7642e03ce g.chrX:129306042G>A ENST00000257017.4 + 1 420 c.6G>A c.(4-6)gcG>gcA p.A2A NM_004794.2 NP_004785.1 Q14088 RB33A_HUMAN RAB33A, member RAS oncogene family 2 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity|protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5) 11 GGGAGATGGCGCAGCCCATCC 0.692000 16 32 0 0 1 0 0 STEAP1B 256227 broad.mit.edu 37 7 22532260 22532260 + Missense_Mutation SNP A A G rs62447564 by1000genomes TCGA-HT-7877-01A-11D-2395-08 TCGA-HT-7877-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6dc115c-4c2c-4f45-bc8b-09bb9562cdce 44355458-1ec3-4e6b-bae8-e1a7642e03ce g.chr7:22532260A>G ENST00000404369.4 - 4 1101 c.686T>C c.(685-687)aTa>aCa p.I229T STEAP1B_ENST00000406890.2_Missense_Mutation_p.I210T NM_001164460.1 NP_001157932.1 Q6NZ63 STEAL_HUMAN STEAP family member 1B 210 integral to membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity endometrium(1)|kidney(1)|lung(2) 4 CAGAGCCAGTATTGCCAGTCC 0.393000 4 60 0 0 1 0 0 FARP1 10160 broad.mit.edu 37 13 99076871 99076871 + Silent SNP C C T TCGA-HT-7877-01A-11D-2395-08 TCGA-HT-7877-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6dc115c-4c2c-4f45-bc8b-09bb9562cdce 44355458-1ec3-4e6b-bae8-e1a7642e03ce g.chr13:99076871C>T ENST00000376586.2 + 17 2208 c.1872C>T c.(1870-1872)ggC>ggT p.G624G FARP1_ENST00000595437.1_Silent_p.G624G|FARP1_ENST00000319562.6_Silent_p.G624G Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 624 DH. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) AAAGAATCGGCGATGTCATGC 0.502000 8 34 0 0 1 0 0 NIPAL1 152519 broad.mit.edu 37 4 48037778 48037778 + Silent SNP G G T TCGA-HT-7877-01A-11D-2395-08 TCGA-HT-7877-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6dc115c-4c2c-4f45-bc8b-09bb9562cdce 44355458-1ec3-4e6b-bae8-e1a7642e03ce g.chr4:48037778G>T ENST00000295461.5 + 6 888 c.822G>T c.(820-822)ccG>ccT p.P274P NM_207330.1 NP_997213.1 Q6NVV3 NIPA3_HUMAN NIPA-like domain containing 1 274 integral to membrane endometrium(2)|large_intestine(1)|lung(3)|skin(2) 8 ACAAACATCCGCTGGTCTTTG 0.428000 4 60 1 1 1 1 0 NOL12 79159 broad.mit.edu 37 22 38087302 38087302 + Missense_Mutation SNP C C T TCGA-HT-7877-01A-11D-2395-08 TCGA-HT-7877-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6dc115c-4c2c-4f45-bc8b-09bb9562cdce 44355458-1ec3-4e6b-bae8-e1a7642e03ce g.chr22:38087302C>T ENST00000359114.4 + 6 671 c.601C>T c.(601-603)Cgc>Tgc p.R201C NOL12_ENST00000493862.1_3'UTR|RP1-37E16.12_ENST00000455236.1_RNA NM_024313.2 NP_077289.1 Q9UGY1 NOL12_HUMAN nucleolar protein 12 201 nucleolus rRNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1) 8 Melanoma(58;0.0574) CAAGGCCCAGCGCCGCCGTCT 0.632000 23 41 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098920 11098920 + RNA SNP A A G rs78230864 TCGA-HT-7877-01A-11D-2395-08 TCGA-HT-7877-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6dc115c-4c2c-4f45-bc8b-09bb9562cdce 44355458-1ec3-4e6b-bae8-e1a7642e03ce g.chr21:11098920A>G ENST00000470054.1 - 0 5 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gggagataccagagaccctaa 0.572000 4 26 0 0 1 0 0 ARHGDIB 397 broad.mit.edu 37 12 15095522 15095522 + Silent SNP G G A TCGA-HT-7877-01A-11D-2395-08 TCGA-HT-7877-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6dc115c-4c2c-4f45-bc8b-09bb9562cdce 44355458-1ec3-4e6b-bae8-e1a7642e03ce g.chr12:15095522G>A ENST00000228945.4 - 6 684 c.540C>T c.(538-540)gaC>gaT p.D180D ARHGDIB_ENST00000539131.1_5'UTR|ARHGDIB_ENST00000541644.1_Silent_p.D180D|ARHGDIB_ENST00000541546.1_Silent_p.D180D NM_001175.4 NP_001166.3 P52566 GDIR2_HUMAN Rho GDP dissociation inhibitor (GDI) beta 180 actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol GTPase activator activity|Rho GDP-dissociation inhibitor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 15 GCTTGTCATCGTCGGTGAAGA 0.567000 63 142 0 0 1 0 0 ARHGEF9 23229 broad.mit.edu 37 X 62893977 62893977 + Nonsense_Mutation SNP G G A TCGA-HT-7877-01A-11D-2395-08 TCGA-HT-7877-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6dc115c-4c2c-4f45-bc8b-09bb9562cdce 44355458-1ec3-4e6b-bae8-e1a7642e03ce g.chrX:62893977G>A ENST00000253401.6 - 6 1665 c.865C>T c.(865-867)Cga>Tga p.R289* ARHGEF9_ENST00000374872.1_Nonsense_Mutation_p.R268*|ARHGEF9_ENST00000374878.1_Nonsense_Mutation_p.R287*|ARHGEF9_ENST00000433323.2_Nonsense_Mutation_p.R60*|ARHGEF9_ENST00000437457.2_Nonsense_Mutation_p.R236*|ARHGEF9_ENST00000374870.4_Nonsense_Mutation_p.R187*|ARHGEF9_ENST00000495564.1_5'UTR NM_015185.2 NP_056000.1 O43307 ARHG9_HUMAN Cdc42 guanine nucleotide exchange factor (GEF) 9 289 apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol Rho guanyl-nucleotide exchange factor activity p.R287*(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1) 35 TCTAAACGTCGCTTGCGTTCG 0.458000 4 63 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42178327 42178327 + Missense_Mutation SNP C C T TCGA-HT-7877-01A-11D-2395-08 TCGA-HT-7877-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6dc115c-4c2c-4f45-bc8b-09bb9562cdce 44355458-1ec3-4e6b-bae8-e1a7642e03ce g.chr15:42178327C>T ENST00000320955.6 - 7 1353 c.1126G>A c.(1126-1128)Gca>Aca p.A376T NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 376 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) GCTTGGAGTGCTGTCTGTAGC 0.667000 13 29 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10906911 10906911 + Silent SNP G G A TCGA-HT-7877-01A-11D-2395-08 TCGA-HT-7877-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6dc115c-4c2c-4f45-bc8b-09bb9562cdce 44355458-1ec3-4e6b-bae8-e1a7642e03ce g.chr21:10906911G>A ENST00000298232.7 - 23 1963 c.1596C>T c.(1594-1596)tcC>tcT p.S532S TPTE_ENST00000342420.5_Silent_p.S512S|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.S550S NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 550 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.S550S(1)|p.S532S(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATACTTAATCGGATCCAGCTA 0.398000 5 69 0 0 1 0 0 G6PD 2539 broad.mit.edu 37 X 153762634 153762634 + Missense_Mutation SNP G G A rs5030868 byFrequency TCGA-HT-7877-01A-11D-2395-08 TCGA-HT-7877-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6dc115c-4c2c-4f45-bc8b-09bb9562cdce 44355458-1ec3-4e6b-bae8-e1a7642e03ce g.chrX:153762634G>A ENST00000393562.2 - 6 1036 c.653C>T c.(652-654)tCc>tTc p.S218F G6PD_ENST00000369620.2_Missense_Mutation_p.S188F|G6PD_ENST00000393564.2_Missense_Mutation_p.S188F NM_000402.3 NP_000393.4 P11413 G6PD_HUMAN glucose-6-phosphate dehydrogenase 188 cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4) 18 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GAACAGGGAGGAGATGTGGTT 0.632000 43 106 0 0 1 0 0 PLCB2 5330 broad.mit.edu 37 15 40590542 40590542 + Missense_Mutation SNP C C T TCGA-HT-7877-01A-11D-2395-08 TCGA-HT-7877-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6dc115c-4c2c-4f45-bc8b-09bb9562cdce 44355458-1ec3-4e6b-bae8-e1a7642e03ce g.chr15:40590542C>T ENST00000260402.3 - 11 1286 c.1037G>A c.(1036-1038)cGc>cAc p.R346H PLCB2_ENST00000557821.1_Missense_Mutation_p.R346H|PLCB2_ENST00000456256.2_Missense_Mutation_p.R346H NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 346 PI-PLC X-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) CAGCACCTGGCGGTACATCTC 0.627000 40 59 0 0 1 0 0 MAMLD1 10046 broad.mit.edu 37 X 149638921 149638921 + Missense_Mutation SNP C C G TCGA-HT-7877-01A-11D-2395-08 TCGA-HT-7877-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6dc115c-4c2c-4f45-bc8b-09bb9562cdce 44355458-1ec3-4e6b-bae8-e1a7642e03ce g.chrX:149638921C>G ENST00000370401.2 + 4 1386 c.1076C>G c.(1075-1077)cCa>cGa p.P359R MAMLD1_ENST00000432680.2_Missense_Mutation_p.P334R|MAMLD1_ENST00000426613.2_Missense_Mutation_p.P334R|MAMLD1_ENST00000262858.5_Missense_Mutation_p.P359R Q13495 MAMD1_HUMAN mastermind-like domain containing 1 359 Poly-Pro. P -> S (in dbSNP:rs41313406). male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) ccaccacccccaTTCAGCCCC 0.612000 45 166 0 0 1 0 0 SNRNP200 23020 broad.mit.edu 37 2 96959095 96959116 + Frame_Shift_Del DEL TAGAAAGGTGGCTACATCTTCA TAGAAAGGTGGCTACATCTTCA - TCGA-HT-7877-01A-11D-2395-08 TCGA-HT-7877-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6dc115c-4c2c-4f45-bc8b-09bb9562cdce 44355458-1ec3-4e6b-bae8-e1a7642e03ce g.chr2:96959095_96959116delTAGAAAGGTGGCTACATCTTCA ENST00000323853.5 - 15 2051_2072 c.1974_1995delTGAAGATGTAGCCACCTTTCTA c.(1972-1995)tafs p.YEDVATFL658fs SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 658 Helicase ATP-binding 1. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 GGTCAACACGTAGAAAGGTGGCTACATCTTCATAGTTGGGTA 0.495 17 114 --- --- --- --- IDE 3416 broad.mit.edu 37 10 94333744 94333744 + Frame_Shift_Del DEL G G - TCGA-HT-7877-01A-11D-2395-08 TCGA-HT-7877-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6dc115c-4c2c-4f45-bc8b-09bb9562cdce 44355458-1ec3-4e6b-bae8-e1a7642e03ce g.chr10:94333744delG ENST00000265986.6 - 1 89 c.33delC c.(31-33)ccfs p.P11fs NM_004969.3 NP_004960.2 P14735 IDE_HUMAN insulin-degrading enzyme 11 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGGGCAGTGCGGGGTGCAGAA 0.716 2 4 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-HT-7877-01A-11D-2395-08 TCGA-HT-7877-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6dc115c-4c2c-4f45-bc8b-09bb9562cdce 44355458-1ec3-4e6b-bae8-e1a7642e03ce g.chrX:150817142_150817144delGCT ENST00000370357.4 + 9 930_932 c.685_687delGCT c.(685-687)del p.A236del NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity p.A229A(2) 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) CGTTGAACCCgctgctgctgctg 0.433 8 172 --- --- --- ---