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 PECR 55825 broad.mit.edu 37 2 216904042 216904042 + Missense_Mutation SNP C C T TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr2:216904042C>T ENST00000265322.7 - 8 942 c.868G>A c.(868-870)Gtc>Atc p.V290I NM_018441.5 NP_060911.2 Q9BY49 PECR_HUMAN peroxisomal trans-2-enoyl-CoA reductase 290 fatty acid biosynthetic process|regulation of apoptosis peroxisome binding|trans-2-enoyl-CoA reductase (NADPH) activity endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1) 14 Renal(323;0.0327) Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Adenine(DB00173) ATCTTTTTGACAACAGAAAGG 0.483000 17 67 0 0 1 0 0 GOT2 2806 broad.mit.edu 37 16 58743428 58743428 + Missense_Mutation SNP G G A TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr16:58743428G>A ENST00000245206.5 - 9 1191 c.1063C>T c.(1063-1065)Cgg>Tgg p.R355W GOT2_ENST00000434819.2_Missense_Mutation_p.R312W NM_002080.2 NP_002071.2 P00505 AATM_HUMAN glutamic-oxaloacetic transaminase 2, mitochondrial 355 aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol mitochondrial matrix|plasma membrane L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding p.R355W(2)|p.R355G(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1) 22 L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AGTTGAGTCCGCATGCCAATG 0.507000 5 327 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76849196 76849196 + Missense_Mutation SNP A A G TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chrX:76849196A>G ENST00000373344.5 - 26 6294 c.6080T>C c.(6079-6081)cTt>cCt p.L2027P ATRX_ENST00000395603.3_Missense_Mutation_p.L1989P|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2027 Helicase C-terminal. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TGCCATTCGAAGAATTTCAAA 0.348000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 18 68 0 0 1 0 0 ZNF287 57336 broad.mit.edu 37 17 16456736 16456736 + Missense_Mutation SNP C C A TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr17:16456736C>A ENST00000395824.1 - 6 1337 c.720G>T c.(718-720)tgG>tgT p.W240C ZNF287_ENST00000395825.3_Missense_Mutation_p.W240C Q9HBT7 ZN287_HUMAN zinc finger protein 287 233 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) CTTTAGTTTCCCATTCTGaaa 0.318000 5 102 0.000602214 0.000656961 1 1 0 ARHGEF40 55701 broad.mit.edu 37 14 21552188 21552188 + Silent SNP G G T TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr14:21552188G>T ENST00000298694.4 + 17 3895 c.3768G>T c.(3766-3768)gtG>gtT p.V1256V ARHGEF40_ENST00000298693.3_Silent_p.V1256V Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 1256 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 TGCTGGCCGTGGAGGCGGTGC 0.652000 3 23 1 1 1 1 0 TGM5 9333 broad.mit.edu 37 15 43545093 43545093 + Nonsense_Mutation SNP C C T TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr15:43545093C>T ENST00000220420.5 - 6 733 c.726G>A c.(724-726)tgG>tgA p.W242* TGM5_ENST00000349114.4_Nonsense_Mutation_p.W160* NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 242 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) AATTCTCACTCCAGTTTCCAT 0.532000 15 72 0 0 1 0 0 ATAD2B 54454 broad.mit.edu 37 2 23985167 23985167 + Silent SNP C C G TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr2:23985167C>G ENST00000238789.5 - 24 3649 c.3306G>C c.(3304-3306)cgG>cgC p.R1102R ATAD2B_ENST00000474583.1_5'UTR NM_001242338.1|NM_017552.2 NP_001229267.1|NP_060022.1 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 1102 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTCTGTCTTCCGAGCTCCAG 0.388000 5 22 0 0 1 0 0 MS4A14 84689 broad.mit.edu 37 11 60164158 60164158 + Missense_Mutation SNP A A G TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr11:60164158A>G ENST00000300187.6 + 1 384 c.107A>G c.(106-108)gAt>gGt p.D36G MS4A14_ENST00000531783.1_Missense_Mutation_p.D36G|MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000395005.2_Missense_Mutation_p.D36G|MS4A14_ENST00000531787.1_Intron NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 36 integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 TCTCTGCTGGATTTTCTGAAG 0.443000 5 36 0 0 1 0 0 MARK2 2011 broad.mit.edu 37 11 63668064 63668064 + Missense_Mutation SNP C C T TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr11:63668064C>T ENST00000402010.2 + 9 1381 c.802C>T c.(802-804)Cgt>Tgt p.R268C MARK2_ENST00000502399.3_Missense_Mutation_p.R268C|MARK2_ENST00000361128.5_Missense_Mutation_p.R268C|MARK2_ENST00000513765.2_Missense_Mutation_p.R235C|MARK2_ENST00000377809.4_Missense_Mutation_p.R268C|MARK2_ENST00000377810.3_Missense_Mutation_p.R235C|MARK2_ENST00000408948.3_Missense_Mutation_p.R235C|MARK2_ENST00000508192.1_Missense_Mutation_p.R268C|MARK2_ENST00000350490.7_Missense_Mutation_p.R268C|MARK2_ENST00000413835.2_Missense_Mutation_p.R268C|MARK2_ENST00000315032.8_Missense_Mutation_p.R268C|MARK2_ENST00000509502.2_Missense_Mutation_p.R235C|MARK2_ENST00000425897.2_Missense_Mutation_p.R235C NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 268 Protein kinase. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.R235S(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 GGGAAAATACCGTATTCCATT 0.468000 6 350 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9073488 9073488 + Missense_Mutation SNP G G T TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr19:9073488G>T ENST00000397910.4 - 3 14161 c.13958C>A c.(13957-13959)aCa>aAa p.T4653K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4655 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 TGGGAACTTTGTTGACTGAGC 0.458000 8 119 0.00307968 0.00329966 1 1 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron 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 90 0 0 1 0 0 SYNM 23336 broad.mit.edu 37 15 99673028 99673028 + Missense_Mutation SNP G G T TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr15:99673028G>T ENST00000336292.6 + 5 4580 c.4460G>T c.(4459-4461)gGt>gTt p.G1487V SYNM_ENST00000328642.7_Missense_Mutation_p.G1175V|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Missense_Mutation_p.G890V NM_145728.2 NP_663780.2 O15061 SYNEM_HUMAN synemin, intermediate filament protein 1488 Interaction with DMD and UTRN.|Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 TCTGACCGTGGTTCCTGGAGA 0.567000 11 181 1.58986e-06 1.87043e-06 1 1 0 TIMM44 10469 broad.mit.edu 37 19 7997604 7997604 + Missense_Mutation SNP C C T TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr19:7997604C>T ENST00000270538.3 - 9 1163 c.895G>A c.(895-897)Gtg>Atg p.V299M NM_006351.3 NP_006342.2 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 homolog (yeast) 299 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 17 TCCGTGAGCACCTCCGACATC 0.652000 18 95 0 0 1 0 0 SBF1 6305 broad.mit.edu 37 22 50903540 50903540 + Missense_Mutation SNP G G A TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr22:50903540G>A ENST00000380817.2 - 12 1405 c.1222C>T c.(1222-1224)Cgt>Tgt p.R408C SBF1_ENST00000348911.6_Missense_Mutation_p.R409C|SBF1_ENST00000390679.3_Missense_Mutation_p.R408C NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 408 dDENN. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) ACCAGCCCACGCTGGCCCAGG 0.632000 4 46 0 0 1 0 0 CYP2D7P1 0 broad.mit.edu 37 22 42538870 42538870 + RNA SNP A A C rs2982057 by1000genomes TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr22:42538870A>C ENST00000358097.4 - 0 449 CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA endometrium(1) 1 CCATAGCGCGACAGGAACACC 0.687000 4 48 0 0 1 0 0 CACNG3 10368 broad.mit.edu 37 16 24372952 24372952 + Missense_Mutation SNP C C A TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr16:24372952C>A ENST00000005284.3 + 4 1918 c.716C>A c.(715-717)tCc>tAc p.S239Y NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 239 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) AGTTCTCGCTCCACCGAGCCC 0.577000 8 106 0.000442599 0.000501056 1 1 0 MUC17 140453 broad.mit.edu 37 7 100677107 100677107 + Nonsense_Mutation SNP G G T TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr7:100677107G>T ENST00000306151.4 + 3 2474 c.2410G>T c.(2410-2412)Gga>Tga p.G804* NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 804 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCCTAGTGAAGGAAGTCCTTT 0.478000 22 524 3.73194e-20 4.56972e-20 1 1 0 ECEL1 9427 broad.mit.edu 37 2 233348787 233348787 + Missense_Mutation SNP T T G TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr2:233348787T>G ENST00000304546.1 - 7 1541 c.1331A>C c.(1330-1332)cAg>cCg p.Q444P ECEL1_ENST00000409941.1_Missense_Mutation_p.Q444P NM_004826.2 NP_004817.2 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 444 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) GCGATTGGCCTGGCCCAAGCA 0.617000 11 152 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578403 7578403 + Missense_Mutation SNP C C T TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr17:7578403C>T ENST00000420246.2 - 5 659 c.527G>A c.(526-528)tGc>tAc p.C176Y TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 176 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; 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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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) ATGGTGGGGGCAGCGCCTCAC 0.652000 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) 16 61 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215960035 215960035 + Missense_Mutation SNP C C T TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr1:215960035C>T ENST00000366943.2 - 52 10750 c.10364G>A c.(10363-10365)aGt>aAt p.S3455N USH2A_ENST00000307340.3_Missense_Mutation_p.S3455N O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3455 Fibronectin type-III 19. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CGTGTTTACACTCCCTGTATG 0.433000 HNSCC(13;0.011) 13 89 0 0 1 0 0 ANXA3 306 broad.mit.edu 37 4 79512710 79512710 + Missense_Mutation SNP G G T TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr4:79512710G>T ENST00000264908.6 + 7 795 c.416G>T c.(415-417)aGt>aTt p.S139I ANXA3_ENST00000503570.2_Missense_Mutation_p.S100I|ANXA3_ENST00000512884.1_Missense_Mutation_p.S100I NM_005139.2 NP_005130.1 P12429 ANXA3_HUMAN annexin A3 139 defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity phagocytic vesicle membrane|plasma membrane|specific granule calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 TACAAGAAGAGTCTTGGAGAT 0.338000 5 117 2.7689e-08 3.32268e-08 1 1 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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 12 52 0 0 1 0 0 C11orf30 56946 broad.mit.edu 37 11 76255366 76255366 + Missense_Mutation SNP G G A TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr11:76255366G>A ENST00000529032.1 + 18 2773 c.2773G>A c.(2773-2775)Gtt>Att p.V925I C11orf30_ENST00000334736.3_Missense_Mutation_p.V925I|C11orf30_ENST00000524490.1_Missense_Mutation_p.V827I|C11orf30_ENST00000343878.3_Missense_Mutation_p.V925I|C11orf30_ENST00000524767.1_Missense_Mutation_p.V940I|C11orf30_ENST00000525919.1_Missense_Mutation_p.V926I|C11orf30_ENST00000525038.1_Missense_Mutation_p.V926I|C11orf30_ENST00000533248.1_Missense_Mutation_p.V834I Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 925 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 GGAGGGCGAGGTTGAAGAGAT 0.463000 4 86 0 0 1 0 0 NKX2-1 7080 broad.mit.edu 37 14 36988289 36988289 + Missense_Mutation SNP C C A TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr14:36988289C>A ENST00000518149.1 - 2 879 c.274G>T c.(274-276)Ggc>Tgc p.G92C NKX2-1_ENST00000522719.2_Missense_Mutation_p.G92C|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_Missense_Mutation_p.G92C|NKX2-1_ENST00000354822.5_Missense_Mutation_p.G122C P43699 NKX21_HUMAN NK2 homeobox 1 92 epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development protein binding|transcription regulatory region DNA binding large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 7 all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165) Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132) GBM - Glioblastoma multiforme(112;0.0171) CTCATGTTGCCCAGGTTGCCG 0.721000 A NSCLC 5 23 0.184627 0.190994 1 1 0 RNPEPL1 57140 broad.mit.edu 37 2 241513688 241513688 + Missense_Mutation SNP A A G TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr2:241513688A>G ENST00000270357.3 + 5 997 c.404A>G c.(403-405)aAc>aGc p.N135S NM_018226.4 NP_060696.4 Q9HAU8 RNPL1_HUMAN arginyl aminopeptidase (aminopeptidase B)-like 1 135 leukotriene biosynthetic process|proteolysis aminopeptidase activity|metallopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 13 all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238) Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322) GCTGTCACCAACGCCACGTGG 0.632000 22 69 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730997 21730997 + Missense_Mutation SNP A A G TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr17:21730997A>G ENST00000584755.1 + 2 696 c.299A>G c.(298-300)gAa>gGa p.E100G UBBP4_ENST00000583708.1_Missense_Mutation_p.K24E|UBBP4_ENST00000584398.1_Missense_Mutation_p.K24E|UBBP4_ENST00000578713.1_Missense_Mutation_p.E100G endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GACACCATCGAAAATGTGAAG 0.557000 9 70 0 0 1 0 0 GRB7 2886 broad.mit.edu 37 17 37902199 37902199 + Missense_Mutation SNP G G A rs149195822 TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr17:37902199G>A ENST00000309156.4 + 13 1561 c.1304G>A c.(1303-1305)cGc>cAc p.R435H GRB7_ENST00000394204.1_Intron|GRB7_ENST00000394209.2_Missense_Mutation_p.R435H|GRB7_ENST00000445327.2_Missense_Mutation_p.R458H|GRB7_ENST00000394211.3_Missense_Mutation_p.R435H|GRB7_ENST00000309185.3_Intron NM_005310.3 NP_005301.2 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 435 SH2. blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity p.R435H(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TTCCACGGGCGCATTTCCCGT 0.622000 5 291 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276588 186276588 + Silent SNP T T C TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr1:186276588T>C ENST00000445192.2 + 7 1782 c.1737T>C c.(1735-1737)acT>acC p.T579T PRG4_ENST00000367485.4_Silent_p.T486T|PRG4_ENST00000367486.3_Silent_p.T536T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T538T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 579 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T579T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTGCCCCAACTACCCCCAAGG 0.647000 21 133 0 0 1 0 0 PLCXD3 345557 broad.mit.edu 37 5 41313757 41313757 + Missense_Mutation SNP G G T TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr5:41313757G>T ENST00000377801.3 - 3 1002 c.928C>A c.(928-930)Ctc>Atc p.L310I PLCXD3_ENST00000328457.3_Missense_Mutation_p.L310I Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 310 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 ACATAGTTGAGCTTTATGACA 0.433000 4 73 2.56e-06 2.95385e-06 1 1 0 WDR33 55339 broad.mit.edu 37 2 128471489 128471489 + Silent SNP A A C TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr2:128471489A>C ENST00000322313.4 - 18 3134 c.2976T>G c.(2974-2976)ggT>ggG p.G992G NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 992 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) AGTCCTGGCCACCCCGGAAAG 0.662000 29 143 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 41990504 41990504 + Missense_Mutation SNP C C T TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr1:41990504C>T ENST00000372584.1 - 5 6299 c.5285G>A c.(5284-5286)cGc>cAc p.R1762H HIVEP3_ENST00000372583.1_Missense_Mutation_p.R1762H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1762H|HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1762H NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1762 ZAS2. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CTTCTTGCAGCGAATTCCACA 0.493000 19 94 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98744704 98744704 + Silent SNP T T C TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr2:98744704T>C ENST00000477737.1 + 6 909 c.705T>C c.(703-705)atT>atC p.I235I VWA3B_ENST00000435344.1_Silent_p.I235I|VWA3B_ENST00000451075.2_Silent_p.I85I NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 235 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TTTTGCAGATTGAATCCATTT 0.468000 5 162 0 0 1 0 0 GGTLC1 92086 broad.mit.edu 37 20 23967157 23967157 + Missense_Mutation SNP A A G TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr20:23967157A>G ENST00000335694.4 - 2 296 c.92T>C c.(91-93)aTg>aCg p.M31T GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T NM_178311.2 NP_842563.1 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 31 gamma-glutamyltransferase activity p.M31T(6) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 GTCATCCGGCATGTAGAACTC 0.622000 5 98 0 0 1 0 0 SMARCA1 6594 broad.mit.edu 37 X 128633716 128633716 + Nonsense_Mutation SNP G G A TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chrX:128633716G>A ENST00000371122.4 - 10 1399 c.1270C>T c.(1270-1272)Cga>Tga p.R424* SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.R424*|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.R424* NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 424 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 CACCATTCTCGTTGCATCTTA 0.318000 31 94 0 0 1 0 0 PTPRG 5793 broad.mit.edu 37 3 62248553 62248553 + Nonsense_Mutation SNP C C G TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr3:62248553C>G ENST00000474889.1 + 17 3017 c.2640C>G c.(2638-2640)taC>taG p.Y880* PTPRG_ENST00000295874.10_Nonsense_Mutation_p.Y851*|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 880 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) AAAACAGATACATCAACATTT 0.393000 4 29 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123517776 123517776 + Silent SNP G G A TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chrX:123517776G>A ENST00000422452.2 - 30 7068 c.7005C>T c.(7003-7005)agC>agT p.S2335S TENM1_ENST00000371130.3_Silent_p.S2328S|STAG2_ENST00000469481.1_Intron NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GACCTCGGCTGCTGAACACAG 0.423000 8 129 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C rs121912666 TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr17:7578190T>C ENST00000420246.2 - 6 791 c.659A>G c.(658-660)tAt>tGt p.Y220C TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 220 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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) AGGCGGCTCATAGGGCACCAC 0.557000 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) 5 45 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron 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 89 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52406256 52406256 + Missense_Mutation SNP G G T TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr3:52406256G>T ENST00000420323.2 + 43 6941 c.6680G>T c.(6679-6681)gGg>gTg p.G2227V NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2227 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CTGTGCATTGGGCCAACAGGC 0.612000 3 45 1 1 1 1 0 SELENBP1 8991 broad.mit.edu 37 1 151338898 151338898 + Silent SNP G G A TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr1:151338898G>A ENST00000426705.2 - 7 966 c.822C>T c.(820-822)gaC>gaT p.D274D SELENBP1_ENST00000435071.1_Silent_p.D168D|SELENBP1_ENST00000447402.3_Silent_p.D170D|SELENBP1_ENST00000368868.5_Silent_p.D232D NM_001258289.1 NP_001245218.1 Q13228 SBP1_HUMAN selenium binding protein 1 232 protein transport cytosol|membrane|nucleolus protein binding|selenium binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GGCGCTGCCAGTCCCATACAT 0.572000 6 178 0 0 1 0 0 ZNF485 220992 broad.mit.edu 37 10 44112250 44112250 + Missense_Mutation SNP G G T TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr10:44112250G>T ENST00000361807.3 + 5 953 c.759G>T c.(757-759)caG>caT p.Q253H ZNF485_ENST00000374435.3_Missense_Mutation_p.Q253H|ZNF485_ENST00000374437.2_Missense_Mutation_p.Q162H NM_145312.3 NP_660355.2 Q8NCK3 ZN485_HUMAN zinc finger protein 485 253 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 CCTTCGCTCAGAATGCAGCTC 0.398000 4 79 0.000602214 0.000656961 1 1 0 KRTAP5-1 387264 broad.mit.edu 37 11 1606166 1606166 + Missense_Mutation SNP G G C TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr11:1606166G>C ENST00000382171.2 - 1 347 c.314C>G c.(313-315)tCc>tGc p.S105C KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 105 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCCCCCCTTGGAGCCCCCACA 0.672000 4 84 0 0 1 0 0 GPRC5D 55507 broad.mit.edu 37 12 13103216 13103216 + Missense_Mutation SNP C C T TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr12:13103216C>T ENST00000228887.1 - 1 102 c.103G>A c.(103-105)Gtg>Atg p.V35M RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000542078.1_RNA|GPRC5D_ENST00000396333.3_Missense_Mutation_p.V35M|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000545914.1_RNA NM_018654.1 NP_061124.1 Q9NZD1 GPC5D_HUMAN G protein-coupled receptor, family C, group 5, member D 35 integral to membrane|plasma membrane G-protein coupled receptor activity kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) ATTGTGACCACGATGCCAAGT 0.532000 22 114 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176668593 176668593 + Missense_Mutation SNP T T A TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr1:176668593T>A ENST00000367662.3 + 8 4268 c.3104T>A c.(3103-3105)cTc>cAc p.L1035H NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1035 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GATGCAGCACTCCTGACTTCT 0.557000 9 159 0 0 1 0 0 SLC2A14 144195 broad.mit.edu 37 12 7984329 7984329 + Missense_Mutation SNP G G A TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr12:7984329G>A ENST00000543909.1 - 9 971 c.212C>T c.(211-213)aCg>aTg p.T71M SLC2A14_ENST00000340749.5_Missense_Mutation_p.T48M|SLC2A14_ENST00000396589.2_Missense_Mutation_p.T71M|SLC2A14_ENST00000539924.1_Missense_Mutation_p.T86M|SLC2A14_ENST00000542546.1_Intron|SLC2A14_ENST00000535295.1_Intron|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.T48M Q8TDB8 GTR14_HUMAN solute carrier family 2 (facilitated glucose transporter), member 14 71 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) TGCCTTGTCCGTCAAAGTTTT 0.448000 OREG0021654 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 100 0 0 1 0 0 C16orf46 123775 broad.mit.edu 37 16 81095242 81095242 + Nonsense_Mutation SNP C C A TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr16:81095242C>A ENST00000378611.4 - 3 827 c.712G>T c.(712-714)Gag>Tag p.E238* RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000299578.5_Nonsense_Mutation_p.E238* NM_001100873.1 NP_001094343.1 Q6P387 CP046_HUMAN chromosome 16 open reading frame 46 238 NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1) 18 AGCACCTTCTCTTCTGACTGC 0.478000 5 276 0.014758 0.0155347 1 1 0 OR4C16 219428 broad.mit.edu 37 11 55339753 55339753 + Silent SNP C C T TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr11:55339753C>T ENST00000314634.3 + 1 150 c.150C>T c.(148-150)agC>agT p.S50S NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) TCAAGACCAGCCAGGCACTTA 0.388000 35 96 0 0 1 0 0 RP4-717I23.3 0 broad.mit.edu 37 1 93744310 93744310 + RNA DEL T T - TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr1:93744310delT ENST00000451302.2 - 0 1008 RP4-717I23.3_ENST00000413606.1_RNA|RP4-717I23.3_ENST00000424517.3_RNA|RP4-717I23.3_ENST00000427669.1_RNA|RP4-717I23.3_ENST00000447577.1_RNA|RP4-717I23.3_ENST00000455474.1_RNA|RP4-717I23.3_ENST00000429859.1_RNA|RP4-717I23.3_ENST00000446528.2_RNA|RP4-717I23.3_ENST00000457025.1_RNA|RP4-717I23.3_ENST00000415150.1_RNA|RP4-717I23.3_ENST00000414430.1_RNA|RP4-717I23.3_ENST00000442860.1_RNA GGAATGCaaattttttttttt 0.279 2 4 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140811064 140811069 + In_Frame_Del DEL TGCTGC TGCTGC - rs71855026 TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr4:140811064_140811069delTGCTGC ENST00000509479.2 - 2 2377_2382 c.1521_1526delGCAGCA c.(1519-1527)caa>ca p.QQQ507del MAML3_ENST00000398940.1_Splice_Site_p.37_splice|MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 506 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) TGAGtgctgttgctgctgctgctgct 0.515 13 136 --- --- --- --- TRERF1 55809 broad.mit.edu 37 6 42196333 42196333 + Frame_Shift_Del DEL T T - TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr6:42196333delT ENST00000541110.1 - 18 3981 c.3413delA c.(3412-3414)agfs p.K1138fs TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 1118 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTTCTGAGCCTTTTGCCTCTG 0.542 7 656 --- --- --- --- PMS2P3 0 broad.mit.edu 37 7 75142142 75142142 + RNA DEL A A - rs35519730 TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr7:75142142delA ENST00000418756.1 - 0 991 NR_028059.1 lung(1) 1 tctcaaaaagaaaaaaaaaaa 0.418 5 8 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr12:132547093_132547094insCAG ENST00000333577.4 + 48 8398_8399 c.8289_8290insCAG c.(8287-8292)caagca>caCAGagca p.2763_2763Q>HR EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagca 0.564 10 68 --- --- --- --- USP32P2 0 broad.mit.edu 37 17 18431578 18431579 + RNA INS - - T TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr17:18431578_18431579insT ENST00000425211.1 - 0 1497 TGACCTCGGGCTTTTTTTTTCT 0.441 2 4 --- --- --- --- GZMM 3004 broad.mit.edu 37 19 549133 549133 + Frame_Shift_Del DEL C C - TCGA-HT-7902-01A-12D-2395-08 TCGA-HT-7902-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97376c7c-f8e6-4dbf-8ba4-473c5d63c770 b902f262-ad73-455f-8fa4-4d3e4babcd7b g.chr19:549133delC ENST00000264553.3 + 4 598 c.560delC c.(559-561)tcfs p.S187fs NM_001258351.1|NM_005317.3 NP_001245280.1|NP_005308.1 P51124 GRAM_HUMAN granzyme M (lymphocyte met-ase 1) 187 Peptidase S1. apoptosis|cytolysis|innate immune response|proteolysis extracellular region serine-type endopeptidase activity endometrium(1)|large_intestine(1)|prostate(1) 3 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) GGCAGCCTCTCCCCCAGCATG 0.706 2 4 --- --- --- ---