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 PPP1R16A 84988 broad.mit.edu 37 8 145726591 145726591 + Nonsense_Mutation SNP C C T TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr8:145726591C>T ENST00000292539.4 + 10 2034 c.1117C>T c.(1117-1119)Caa>Taa p.Q373* PPP1R16A_ENST00000435887.1_Nonsense_Mutation_p.Q373* Q96I34 PP16A_HUMAN protein phosphatase 1, regulatory subunit 16A 373 plasma membrane protein binding NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1) 8 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CATCGTGTGGCAACAGCCGCC 0.716000 3 10 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85402608 85402608 + Nonsense_Mutation SNP G G T rs142686791 TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr15:85402608G>T ENST00000258888.5 + 7 4725 c.4558G>T c.(4558-4560)Gag>Tag p.E1520* NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1520 Ig-like 2. heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) CCCAGTGGGCGAGGTGGGCAG 0.552000 8 34 2.62144e-13 2.70336e-13 1 1 0 FANCF 2188 broad.mit.edu 37 11 22647295 22647295 + Missense_Mutation SNP G G C TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr11:22647295G>C ENST00000327470.3 - 1 92 c.62C>G c.(61-63)aCc>aGc p.T21S AC103801.2_ENST00000428556.2_3'UTR NM_022725.3 NP_073562.1 Q9NPI8 FANCF_HUMAN Fanconi anemia, complementation group F 21 DNA repair nucleoplasm protein binding kidney(3)|large_intestine(3)|lung(6)|skin(1) 13 GCTGACGTAGGTAGTGCTTGA 0.637000 """N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 8 15 0 0 1 0 0 PAMR1 25891 broad.mit.edu 37 11 35456159 35456159 + Silent SNP C C G TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr11:35456159C>G ENST00000378880.2 - 10 1972 c.1527G>C c.(1525-1527)ctG>ctC p.L509L PAMR1_ENST00000278360.3_Silent_p.L526L|PAMR1_ENST00000532848.1_Silent_p.L469L|PAMR1_ENST00000378878.3_Silent_p.L398L NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 509 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 TGACCTTCCCCAGGTCAGTAA 0.557000 15 48 0 0 1 0 0 FER 2241 broad.mit.edu 37 5 108382846 108382846 + Missense_Mutation SNP T T C TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr5:108382846T>C ENST00000281092.4 + 16 2255 c.1871T>C c.(1870-1872)aTa>aCa p.I624T FER_ENST00000438717.2_Missense_Mutation_p.I449T NM_005246.2 NP_005237.2 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 624 Protein kinase. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) GTCAAACTTATAGGAGTTTGC 0.313000 5 43 0 0 1 0 0 FAM181B 220382 broad.mit.edu 37 11 82443541 82443541 + Missense_Mutation SNP C C T TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr11:82443541C>T ENST00000329203.3 - 1 1365 c.1231G>A c.(1231-1233)Gac>Aac p.D411N NM_175885.3 NP_787081.2 A6NEQ2 F181B_HUMAN family with sequence similarity 181, member B 411 large_intestine(1)|lung(2)|prostate(1) 4 CAAACCCCGTCGGATCTCCAA 0.692000 3 14 0 0 1 0 0 OR7A10 390892 broad.mit.edu 37 19 14952014 14952014 + Missense_Mutation SNP G G A TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr19:14952014G>A ENST00000248058.1 - 1 675 c.676C>T c.(676-678)Cgt>Tgt p.R226C NM_001005190.1 NP_001005190.1 O76100 OR7AA_HUMAN olfactory receptor, family 7, subfamily A, member 10 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1) 19 Ovarian(108;0.203) GAGATTGCACGTATGGAGGAA 0.458000 8 31 0 0 1 0 0 GAS2L3 283431 broad.mit.edu 37 12 101018420 101018420 + Silent SNP C C T TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr12:101018420C>T ENST00000537247.1 + 10 2479 c.1525C>T c.(1525-1527)Ctg>Ttg p.L509L GAS2L3_ENST00000266754.5_Silent_p.L613L|GAS2L3_ENST00000539410.1_Silent_p.L613L|GAS2L3_ENST00000547754.1_Silent_p.L613L Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 613 cell cycle arrest endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 CCGTACCCCACTGTCCATCGT 0.488000 10 35 0 0 1 0 0 RNF40 9810 broad.mit.edu 37 16 30774767 30774767 + Missense_Mutation SNP G G T TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr16:30774767G>T ENST00000324685.6 + 4 764 c.329G>T c.(328-330)cGa>cTa p.R110L RNF40_ENST00000357890.5_Missense_Mutation_p.R110L|RNF40_ENST00000402121.3_Intron|RNF40_ENST00000563683.1_Missense_Mutation_p.R110L NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586.1 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 110 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) GCCCTTCTCCGATGCCATGAG 0.542000 13 32 2.62699e-14 2.79647e-14 1 1 0 CRNN 49860 broad.mit.edu 37 1 152383267 152383267 + Silent SNP G G A TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr1:152383267G>A ENST00000271835.3 - 3 353 c.291C>T c.(289-291)tgC>tgT p.C97C RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 97 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTTGAGAGCCGCAGGCTCCCT 0.577000 27 136 0 0 1 0 0 ALG1L13P 0 broad.mit.edu 37 8 8095880 8095880 + RNA SNP C C T TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr8:8095880C>T ENST00000523017.1 - 0 608 GCCACATGGCCCCAGGCCCAA 0.617000 3 15 0 0 1 0 0 ACKR5 0 broad.mit.edu 37 3 46450522 46450522 + Missense_Mutation SNP C C T TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr3:46450522C>T ENST00000399036.3 + 2 1304 c.952C>T c.(952-954)Cgt>Tgt p.R318C ACKR5_ENST00000400882.2_Missense_Mutation_p.R318C|ACKR5_ENST00000357392.4_Missense_Mutation_p.R330C|ACKR5_ENST00000400880.3_Missense_Mutation_p.R318C NM_003965.4 NP_003956.2 TTTCCATCTGCGTAGTAACAC 0.512000 25 77 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57593708 57593708 + Missense_Mutation SNP G G A TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr12:57593708G>A ENST00000243077.3 + 62 10380 c.9914G>A c.(9913-9915)tGc>tAc p.C3305Y NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3305 EGF-like 13. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) AGCAACCTGTGCCTGCTGTCC 0.587000 9 48 0 0 1 0 0 SLC2A13 114134 broad.mit.edu 37 12 40158559 40158559 + Missense_Mutation SNP T T C TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr12:40158559T>C ENST00000280871.4 - 8 1597 c.1547A>G c.(1546-1548)tAt>tGt p.Y516C NM_052885.3 NP_443117.3 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose transporter), member 13 516 integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 29 Lung NSC(34;0.105)|all_lung(34;0.123) GAAGACAAGATATAAAATAAG 0.333000 HNSCC(50;0.14) 7 38 0 0 1 0 0 DEPDC7 91614 broad.mit.edu 37 11 33050184 33050184 + Missense_Mutation SNP C C T TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr11:33050184C>T ENST00000311388.3 + 4 977 c.601C>T c.(601-603)Cgt>Tgt p.R201C DEPDC7_ENST00000241051.3_Missense_Mutation_p.R210C NM_139160.2 NP_631899.2 Q96QD5 DEPD7_HUMAN DEP domain containing 7 210 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 17 AACAATTGGGCGTCTACTACA 0.383000 11 50 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr17:7577538C>T ENST00000420246.2 - 7 875 c.743G>A c.(742-744)cGg>cAg p.R248Q TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) GATGGGCCTCCGGTTCATGCC 0.572000 R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 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) 7 26 0 0 1 0 0 OR4D6 219983 broad.mit.edu 37 11 59225187 59225187 + Missense_Mutation SNP G G A rs147116622 byFrequency TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr11:59225187G>A ENST00000300127.2 + 1 777 c.754G>A c.(754-756)Gtg>Atg p.V252M NM_001004708.1 NP_001004708.1 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, member 6 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 TCTTCACTTCGTGCCTTGTGT 0.547000 5 55 0 0 1 0 0 COPB1 1315 broad.mit.edu 37 11 14480108 14480108 + Silent SNP G G A TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr11:14480108G>A ENST00000249923.3 - 21 3072 c.2772C>T c.(2770-2772)acC>acT p.T924T COPB1_ENST00000439561.2_Silent_p.T924T NM_016451.4 NP_057535.1 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 924 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 36 TTATATGGCCGGTAACAGCAG 0.433000 3 64 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 4 62 0 0 1 0 0 CDK7 1022 broad.mit.edu 37 5 68555730 68555730 + Missense_Mutation SNP C C G TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr5:68555730C>G ENST00000502604.1 + 6 705 c.215C>G c.(214-216)cCc>cGc p.P72R CDK7_ENST00000513629.1_Intron|CDK7_ENST00000256443.3_Missense_Mutation_p.P165R|CDK7_ENST00000514676.1_Missense_Mutation_p.P128R P50613 CDK7_HUMAN cyclin-dependent kinase 7 165 Protein kinase. androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex|mitochondrion androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity endometrium(1)|lung(2) 3 Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185) TTTGGGAGCCCCAATAGAGCT 0.413000 Nucleotide excision repair (NER) 10 36 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152280684 152280684 + Silent SNP G G C TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr1:152280684G>C ENST00000368799.1 - 3 6713 c.6678C>G c.(6676-6678)ggC>ggG p.G2226G FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2226 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATTGTCCCTGGCCCACCAGTG 0.562000 Ichthyosis 24 121 0 0 1 0 0 SALL4 57167 broad.mit.edu 37 20 50407255 50407255 + Silent SNP G G A TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr20:50407255G>A ENST00000217086.4 - 2 1878 c.1767C>T c.(1765-1767)acC>acT p.T589T SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 589 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GTCTCTCCCCGGTGTGGGTGC 0.507000 13 32 0 0 1 0 0 TCTA 6988 broad.mit.edu 37 3 49449962 49449962 + Missense_Mutation SNP C C T TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr3:49449962C>T ENST00000273590.3 + 1 324 c.103C>T c.(103-105)Cgc>Tgc p.R35C TCTA_ENST00000493381.1_3'UTR|RHOA_ENST00000265538.3_5'UTR NM_022171.2 NP_071503.1 P57738 TCTA_HUMAN T-cell leukemia translocation altered 35 integral to membrane large_intestine(4)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCAGGACATGCGCGTGACCCT 0.652000 3 52 0 0 1 0 0 DPPA2 151871 broad.mit.edu 37 3 109031399 109031399 + Silent SNP G G A TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr3:109031399G>A ENST00000478945.1 - 3 420 c.174C>T c.(172-174)taC>taT p.Y58Y NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 58 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TACCTGGATTGTATTTCTTAG 0.413000 12 78 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627100 43627100 + Silent SNP T T C TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr9:43627100T>C ENST00000332857.6 - 4 1615 c.1587A>G c.(1585-1587)caA>caG p.Q529Q NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 GGGAGAGAGCTTGCACTTTAT 0.483000 50 169 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 134042179 134042179 + Missense_Mutation SNP G G A TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr8:134042179G>A ENST00000220616.4 + 41 7190 c.7150G>A c.(7150-7152)Gca>Aca p.A2384T TG_ENST00000542445.1_Missense_Mutation_p.A754T|TG_ENST00000519543.1_Missense_Mutation_p.A517T|TG_ENST00000377869.1_Missense_Mutation_p.A2327T NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2384 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GTCCCTGGCAGCAGACCGTGG 0.652000 3 40 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716215 13716215 + Silent SNP C C T rs141730031 TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr12:13716215C>T ENST00000279593.3 - 13 4166 c.3957G>A c.(3955-3957)ccG>ccA p.P1319P NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1319 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTACGCTGCGCGGGGCCAGGG 0.582000 7 37 0 0 1 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369528 20369528 + RNA SNP C C T TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr19:20369528C>T ENST00000593655.1 - 0 199 CTGGAGATGGCGTGACTCACA 0.443000 9 63 0 0 1 0 0 GARNL3 84253 broad.mit.edu 37 9 130098420 130098420 + Missense_Mutation SNP G G A TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr9:130098420G>A ENST00000373387.4 + 11 1239 c.887G>A c.(886-888)cGc>cAc p.R296H GARNL3_ENST00000435213.2_Missense_Mutation_p.R274H|GARNL3_ENST00000314904.5_Missense_Mutation_p.R296H NM_032293.4 NP_115669.3 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 296 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 GAAAGGAAACGCCACATTGGA 0.413000 7 29 0 0 1 0 0 SEMA3F 6405 broad.mit.edu 37 3 50225399 50225399 + Frame_Shift_Del DEL C C - TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr3:50225399delC ENST00000002829.3 + 19 2693 c.2209delC c.(2209-2211)cafs p.P737fs SEMA3F_ENST00000413852.1_Frame_Shift_Del_p.P638fs|SEMA3F_ENST00000434342.1_Frame_Shift_Del_p.P706fs NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 737 axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) GCTGGCCCAGCCAGAAGTGGG 0.697 2 4 --- --- --- --- LINC00502 0 broad.mit.edu 37 10 92813180 92813180 + RNA DEL A A - rs111380766 TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr10:92813180delA ENST00000423621.1 + 0 264 TGGGCCTGATAAAAAAAAAGC 0.343 2 4 --- --- --- ---