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 NEO1 4756 broad.mit.edu 37 15 73536774 73536774 + Missense_Mutation SNP T T C TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr15:73536774T>C ENST00000339362.5 + 10 1988 c.1541T>C c.(1540-1542)aTg>aCg p.M514T NEO1_ENST00000558964.1_Missense_Mutation_p.M514T|NEO1_ENST00000560262.1_Missense_Mutation_p.M514T|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000261908.6_Missense_Mutation_p.M514T Q92859 NEO1_HUMAN neogenin 1 514 Fibronectin type-III 1. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 TTTAGAGTTATGGCTCAAAAT 0.473000 19 58 0 0 1 0 0 FAM167B 84734 broad.mit.edu 37 1 32713141 32713141 + Missense_Mutation SNP G G A TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr1:32713141G>A ENST00000373582.3 + 1 308 c.119G>A c.(118-120)cGg>cAg p.R40Q NM_032648.2 NP_116037.2 Q9BTA0 F167B_HUMAN family with sequence similarity 167, member B 40 endometrium(1)|large_intestine(1)|lung(1)|ovary(2) 5 CAGACTCGGCGGCCCTCATAT 0.627000 3 44 0 0 1 0 0 PIM2 11040 broad.mit.edu 37 X 48772535 48772535 + Silent SNP A A T TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chrX:48772535A>T ENST00000376509.4 - 4 546 c.357T>A c.(355-357)ccT>ccA p.P119P NM_006875.3 NP_006866.2 Q9P1W9 PIM2_HUMAN pim-2 oncogene 119 Protein kinase. anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus ATP binding|protein serine/threonine kinase activity lung(3)|stomach(1) 4 GGGCGGGCAAAGGCCGCTCGA 0.597000 12 30 0 0 1 0 0 ITPRIP 85450 broad.mit.edu 37 10 106075684 106075684 + Missense_Mutation SNP C C G TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr10:106075684C>G ENST00000278071.2 - 3 578 c.126G>C c.(124-126)caG>caC p.Q42H ITPRIP_ENST00000337478.1_Missense_Mutation_p.Q42H|ITPRIP_ENST00000358187.2_Missense_Mutation_p.Q42H NM_033397.2 NP_203755.1 Q8IWB1 IPRI_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein 42 plasma membrane breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1) 20 CCTGGTGCGCCTGCATCTTGC 0.657000 39 52 0 0 1 0 0 NSL1 25936 broad.mit.edu 37 1 212957773 212957773 + Missense_Mutation SNP G G A TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr1:212957773G>A ENST00000366977.3 - 3 394 c.376C>T c.(376-378)Cgt>Tgt p.R126C NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000366976.1_Missense_Mutation_p.R126C|NSL1_ENST00000422588.2_Missense_Mutation_p.R126C|NSL1_ENST00000366975.6_Missense_Mutation_p.R126C|NSL1_ENST00000366978.1_Missense_Mutation_p.R23C NM_015471.3 NP_056286.3 Q96IY1 NSL1_HUMAN NSL1, MIS12 kinetochore complex component 126 cell division|chromosome segregation|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102) TACTGCTTACGTTTTGTGGCT 0.303000 26 86 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 3937135 3937135 + Missense_Mutation SNP G G A TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr9:3937135G>A ENST00000324333.10 - 4 1493 c.1300C>T c.(1300-1302)Cgg>Tgg p.R434W GLIS3_ENST00000381971.3_Missense_Mutation_p.R589W|GLIS3_ENST00000461870.1_5'UTR NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 434 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) GTGTGGCTCCGCAAGTGGATC 0.498000 4 109 0 0 1 0 0 RHAG 6005 broad.mit.edu 37 6 49583444 49583444 + Missense_Mutation SNP C C T TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr6:49583444C>T ENST00000371175.4 - 4 559 c.533G>A c.(532-534)gGg>gAg p.G178E RHAG_ENST00000229810.7_Missense_Mutation_p.G178E NM_000324.2 NP_000315.2 Q02094 RHAG_HUMAN Rh-associated glycoprotein 178 carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) AAAGTAGGCCCCAAAGGCATG 0.468000 5 69 0 0 1 0 0 RPS2 6187 broad.mit.edu 37 16 2012755 2012755 + Silent SNP G G A TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr16:2012755G>A ENST00000529806.1 - 3 627 c.441C>T c.(439-441)ccC>ccT p.P147P RPS2_ENST00000343262.4_Silent_p.P177P|RPS2_ENST00000526522.1_Intron|RPS2_ENST00000530225.1_Silent_p.P177P P15880 RS2_HUMAN ribosomal protein S2 177 S5 DRBM. endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleoplasm fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 GGACAGTGTGGGGCTTGCCGA 0.672000 8 12 0 0 1 0 0 CPA2 1358 broad.mit.edu 37 7 129906767 129906767 + Missense_Mutation SNP A A G TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr7:129906767A>G ENST00000222481.4 + 1 101 c.46A>G c.(46-48)Atc>Gtc p.I16V NM_001869.2 NP_001860.2 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) 16 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Melanoma(18;0.0435) TTTTGGGCATATCTACTGTCT 0.403000 20 160 0 0 1 0 0 CCBE1 147372 broad.mit.edu 37 18 57136753 57136753 + Nonsense_Mutation SNP G G A TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr18:57136753G>A ENST00000439986.4 - 4 389 c.352C>T c.(352-354)Cga>Tga p.R118* CCBE1_ENST00000398179.2_5'UTR NM_133459.3 NP_597716.1 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 118 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) CGGTCATATCGGTATCCCGGA 0.517000 54 92 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578395 7578395 + Missense_Mutation SNP G G C TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr17:7578395G>C ENST00000420246.2 - 5 667 c.535C>G c.(535-537)Cat>Gat p.H179D TP53_ENST00000269305.4_Missense_Mutation_p.H179D|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H179D|TP53_ENST00000359597.4_Missense_Mutation_p.H179D|TP53_ENST00000413465.2_Missense_Mutation_p.H179D|TP53_ENST00000455263.2_Missense_Mutation_p.H179D NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 179 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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) CAGCGCTCATGGTGGGGGCAG 0.642000 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) 29 45 0 0 1 0 0 NLRP6 171389 broad.mit.edu 37 11 284541 284541 + Silent SNP C C T TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr11:284541C>T ENST00000534750.1 + 7 2641 c.2436C>T c.(2434-2436)gcC>gcT p.A812A NLRP6_ENST00000312165.5_Silent_p.A813A NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 813 cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) AGAGCCCTGCCCTGACCACCC 0.672000 5 18 0 0 1 0 0 GAR1 54433 broad.mit.edu 37 4 110739221 110739221 + Missense_Mutation SNP A A C TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr4:110739221A>C ENST00000226796.6 + 3 608 c.344A>C c.(343-345)gAa>gCa p.E115A GAR1_ENST00000394631.3_Missense_Mutation_p.E115A NM_018983.3 NP_061856.1 Q9NY12 GAR1_HUMAN GAR1 ribonucleoprotein 115 rRNA processing|snRNA pseudouridine synthesis box H/ACA snoRNP complex|Cajal body cation channel activity|pseudouridine synthase activity|snoRNA binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 9 AAAGTGGATGAAATATTTGGA 0.333000 31 51 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150790022 150790022 + Missense_Mutation SNP G G A TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chrX:150790022G>A ENST00000370357.4 + 6 621 c.376G>A c.(376-378)Gaa>Aaa p.E126K NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 126 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) TTCTGCTTACGAAAACGTGAA 0.303000 15 32 0 0 1 0 0 OR51F2 119694 broad.mit.edu 37 11 4843026 4843026 + Missense_Mutation SNP T T G TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr11:4843026T>G ENST00000322110.5 + 1 476 c.411T>G c.(409-411)ttT>ttG p.F137L MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TTGATCGTTTTGTGGCCATCT 0.453000 63 124 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 41961363 41961363 + Nonsense_Mutation SNP C C T TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr15:41961363C>T ENST00000219905.7 + 2 452 c.271C>T c.(271-273)Cga>Tga p.R91* MGA_ENST00000566586.1_Nonsense_Mutation_p.R91*|MGA_ENST00000545763.1_Nonsense_Mutation_p.R91*|MGA_ENST00000570161.1_Nonsense_Mutation_p.R91*|MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Nonsense_Mutation_p.R91* NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 91 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GTTCTATCATCGAAGCACAGA 0.383000 5 88 0 0 1 0 0 LPPR4 0 broad.mit.edu 37 1 99753613 99753613 + Silent SNP C C T TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr1:99753613C>T ENST00000370185.3 + 2 812 c.315C>T c.(313-315)gaC>gaT p.D105D LPPR4_ENST00000457765.1_Silent_p.D105D NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 105 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) GCTGCTATGACCGGAGTCTTA 0.458000 4 137 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 3 35 0 0 1 0 0 TMEM214 54867 broad.mit.edu 37 2 27256953 27256953 + Missense_Mutation SNP G G A TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr2:27256953G>A ENST00000238788.9 + 2 232 c.170G>A c.(169-171)aGc>aAc p.S57N TMEM214_ENST00000404032.3_Missense_Mutation_p.S57N NM_017727.4 NP_060197.4 Q6NUQ4 TM214_HUMAN transmembrane protein 214 57 integral to membrane protein binding kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 CAGACCACAAGCACCCTTTAT 0.542000 8 116 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152706891 152706891 + Missense_Mutation SNP T T C TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr6:152706891T>C ENST00000367255.5 - 55 9171 c.8570A>G c.(8569-8571)cAt>cGt p.H2857R SYNE1_ENST00000448038.1_Missense_Mutation_p.H2864R|SYNE1_ENST00000423061.1_Missense_Mutation_p.H2864R|SYNE1_ENST00000341594.5_Missense_Mutation_p.H2896R|SYNE1_ENST00000265368.4_Missense_Mutation_p.H2857R NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2857 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTTTGCTGAATGGAGCCAATC 0.388000 HNSCC(10;0.0054) 34 113 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr22:18844766G>A ENST00000412938.1 + 0 3016 CAGCCTCTGAGGGCAGCAGTG 0.557000 6 14 0 0 1 0 0 NOL12 79159 broad.mit.edu 37 22 38084873 38084873 + Silent SNP G G C TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr22:38084873G>C ENST00000359114.4 + 4 325 c.255G>C c.(253-255)ctG>ctC p.L85L NOL12_ENST00000493862.1_3'UTR|RP1-37E16.12_ENST00000455236.1_RNA NM_024313.2 NP_077289.1 Q9UGY1 NOL12_HUMAN nucleolar protein 12 85 nucleolus rRNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1) 8 Melanoma(58;0.0574) CAGATGAGCTGGACCGGTTGG 0.637000 4 95 0 0 1 0 0 LBR 3930 broad.mit.edu 37 1 225591028 225591028 + Missense_Mutation SNP G G A TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr1:225591028G>A ENST00000338179.2 - 14 1950 c.1825C>T c.(1825-1827)Cgt>Tgt p.R609C LBR_ENST00000272163.4_Missense_Mutation_p.R609C NM_194442.2 NP_919424.1 Q14739 LBR_HUMAN lamin B receptor 609 cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) GGAAATATACGGTAGGGCACA 0.438000 23 61 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 3 8 0 0 1 0 0 ALG12 79087 broad.mit.edu 37 22 50297602 50297602 + Missense_Mutation SNP G G T TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr22:50297602G>T ENST00000330817.5 - 10 1624 c.1351C>A c.(1351-1353)Ctg>Atg p.L451M NM_024105.3 NP_077010.1 Q9BV10 ALG12_HUMAN ALG12, alpha-1,6-mannosyltransferase 451 dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3) 12 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247) ACGCTGGCCAGGACCCGGTGT 0.637000 3 38 0.115264 0.115264 1 1 0 UNC45B 146862 broad.mit.edu 37 17 33498419 33498419 + Missense_Mutation SNP A A G TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr17:33498419A>G ENST00000268876.5 + 13 1871 c.1774A>G c.(1774-1776)Atc>Gtc p.I592V UNC45B_ENST00000591048.1_Missense_Mutation_p.I511V|UNC45B_ENST00000433649.1_Missense_Mutation_p.I590V|UNC45B_ENST00000394570.2_Missense_Mutation_p.I590V|UNC45B_ENST00000378449.1_Missense_Mutation_p.I511V NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 592 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) CAAGGAGGTCATCCCAGAGCT 0.607000 OREG0024327 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 63 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca 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 27 57 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 4 8 0.00024832 0.000260335 1 1 0 TWSG1 57045 broad.mit.edu 37 18 9359985 9359985 + Missense_Mutation SNP C C T TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr18:9359985C>T ENST00000262120.5 + 3 330 c.139C>T c.(139-141)Cgg>Tgg p.R47W TWSG1_ENST00000581641.1_Missense_Mutation_p.R47W NM_020648.5 NP_065699.1 Q9GZX9 TWSG1_HUMAN twisted gastrulation BMP signaling modulator 1 47 Cys-rich. breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2) 10 CTGCCAGTGCCGGCCGGGAGA 0.448000 4 39 0 0 1 0 0 NONO 4841 broad.mit.edu 37 X 70514290 70514290 + Missense_Mutation SNP T T C TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chrX:70514290T>C ENST00000535149.1 + 3 938 c.295T>C c.(295-297)Tca>Cca p.S99P NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373841.1_Missense_Mutation_p.S188P|NONO_ENST00000373856.3_Missense_Mutation_p.S188P|NONO_ENST00000276079.8_Missense_Mutation_p.S188P NM_001145410.1 NP_001138882.1 Q15233 NONO_HUMAN non-POU domain containing, octamer-binding 188 DBHS.|RRM 1. DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|identical protein binding|nucleotide binding|RNA binding NONO/TFE3(2) endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 19 Renal(35;0.156) AGGAAGGCCCTCAGGAAAAGG 0.522000 T TFE3 papillary renal cancer 17 41 0 0 1 0 0 PIM2 11040 broad.mit.edu 37 X 48772458 48772458 + Missense_Mutation SNP C C G TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chrX:48772458C>G ENST00000376509.4 - 4 623 c.434G>C c.(433-435)gGc>gCc p.G145A NM_006875.3 NP_006866.2 Q9P1W9 PIM2_HUMAN pim-2 oncogene 145 Protein kinase. anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus ATP binding|protein serine/threonine kinase activity lung(3)|stomach(1) 4 CACTACTTGGCCAAAGAAGCA 0.572000 18 48 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 6 35 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577102 7577102 + Missense_Mutation SNP C C T TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr17:7577102C>T ENST00000420246.2 - 8 968 c.836G>A c.(835-837)gGg>gAg p.G279E TP53_ENST00000269305.4_Missense_Mutation_p.G279E|TP53_ENST00000445888.2_Missense_Mutation_p.G279E|TP53_ENST00000359597.4_Missense_Mutation_p.G279E|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.G279E NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 279 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (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.G279E(32)|p.0?(8)|p.G279V(4)|p.?(2)|p.G279fs*65(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.G279fs*26(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) CCGGTCTCTCCCAGGACAGGC 0.547000 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 20 0 0 1 0 0 PELI3 246330 broad.mit.edu 37 11 66243444 66243444 + Silent SNP C C T TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr11:66243444C>T ENST00000349459.6 + 7 1428 c.1144C>T c.(1144-1146)Ctg>Ttg p.L382L PELI3_ENST00000320740.7_Silent_p.L406L|CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000531856.1_3'UTR NM_001098510.1 NP_001091980.1 Q8N2H9 PELI3_HUMAN pellino E3 ubiquitin protein ligase family member 3 406 cytosol protein binding breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1) 15 CGGCCTCTGCCTGGACCCTGG 0.692000 15 39 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24387782 24387782 + Missense_Mutation SNP C C T TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr1:24387782C>T ENST00000330966.7 - 34 4123 c.3961G>A c.(3961-3963)Gct>Act p.A1321T MYOM3_ENST00000374434.3_Missense_Mutation_p.A1318T|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.A211T Q5VTT5 MYOM3_HUMAN myomesin 3 1318 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TGGTGTTCAGCCATTGCATCC 0.512000 3 34 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55270224 55270224 + Silent SNP C C T TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr7:55270224C>T ENST00000275493.2 + 27 3354 c.3177C>T c.(3175-3177)ccC>ccT p.P1059P EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Silent_p.P1006P|EGFR_ENST00000455089.1_Silent_p.P1014P NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 1059 Ser-rich. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AAAGCTGTCCCATCAAGGAAG 0.547000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 5 13 0 0 1 0 0 CTR9 9646 broad.mit.edu 37 11 10785379 10785379 + Missense_Mutation SNP T T G TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr11:10785379T>G ENST00000361367.2 + 9 1573 c.1147T>G c.(1147-1149)Tct>Gct p.S383A NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component 383 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) AATTCTCGGCTCTCTCTATGC 0.353000 25 87 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 3 9 0.004672 0.00482032 1 1 0 ZNF347 84671 broad.mit.edu 37 19 53644840 53644840 + Nonsense_Mutation SNP G G T TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr19:53644840G>T ENST00000452676.2 - 5 1670 c.1244C>A c.(1243-1245)tCa>tAa p.S415* ZNF347_ENST00000601469.2_Nonsense_Mutation_p.S415*|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Nonsense_Mutation_p.S414* NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 414 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) TGTAAGGTGTGAATTTTGAGT 0.428000 10 181 1.58986e-06 1.69412e-06 1 1 0 SSSCA1 10534 broad.mit.edu 37 11 65337966 65337966 + Missense_Mutation SNP G G A rs139666819 TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr11:65337966G>A ENST00000526877.1 + 1 9 c.4G>A c.(4-6)Gcc>Acc p.A2T SSSCA1_ENST00000531405.1_5'UTR|SSSCA1_ENST00000309328.3_Missense_Mutation_p.A2T|SSSCA1_ENST00000527920.1_5'UTR O60232 SSA27_HUMAN Sjogren syndrome/scleroderma autoantigen 1 2 cell division|mitosis protein binding kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 8 CGGCAACATGGCCCTGAACGG 0.677000 5 61 0 0 1 0 0 PSMB10 5699 broad.mit.edu 37 16 67970346 67970346 + Silent SNP A A T TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr16:67970346A>T ENST00000358514.4 - 2 436 c.99T>A c.(97-99)ccT>ccA p.P33P NM_002801.3 NP_002792.1 P40306 PSB10_HUMAN proteasome (prosome, macropain) subunit, beta type, 10 33 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119) TGCGTGCGTGAGGGACCTTGA 0.637000 6 24 0 0 1 0 0 CELP 0 broad.mit.edu 37 9 135962226 135962226 + RNA SNP C C T TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr9:135962226C>T ENST00000411440.2 + 0 733 NR_001275.2 CCCTACACTACGGAAAACAGC 0.607000 9 15 0 0 1 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28296628 28296628 + Missense_Mutation SNP C C T TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr21:28296628C>T ENST00000284987.5 - 8 2658 c.2537G>A c.(2536-2538)cGt>cAt p.R846H AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 846 Spacer. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 AAAGCTATAACGGACATCTAA 0.468000 8 110 0 0 1 0 0 RELT 84957 broad.mit.edu 37 11 73103387 73103387 + Missense_Mutation SNP G G A TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr11:73103387G>A ENST00000064780.2 + 6 760 c.499G>A c.(499-501)Gcc>Acc p.A167T RELT_ENST00000393580.2_Missense_Mutation_p.A167T NM_152222.1 NP_689408.1 Q969Z4 TR19L_HUMAN RELT tumor necrosis factor receptor 167 cytoplasm|integral to membrane|plasma membrane binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 12 CGCGGTCATCGCCATCGTCCC 0.677000 4 30 0 0 1 0 0 FYCO1 79443 broad.mit.edu 37 3 46007981 46007981 + Missense_Mutation SNP G G A TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr3:46007981G>A ENST00000296137.2 - 8 3050 c.2845C>T c.(2845-2847)Cgc>Tgc p.R949C FYCO1_ENST00000535325.1_Missense_Mutation_p.R949C NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 949 transport integral to membrane metal ion binding|protein binding NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) GCTACTTGGCGCTCCAGGCCC 0.652000 4 93 0 0 1 0 0 COX7B 1349 broad.mit.edu 37 X 77160727 77160727 + Missense_Mutation SNP G G C TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chrX:77160727G>C ENST00000481445.1 + 3 328 c.212G>C c.(211-213)aGa>aCa p.R71T NM_001866.2 NP_001857.1 P24311 COX7B_HUMAN cytochrome c oxidase subunit VIIb 71 respiratory electron transport chain integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity endometrium(2) 2 CCTGTTGGCAGAGTTACCCCA 0.398000 4 119 0 0 1 0 0 LMBR1 64327 broad.mit.edu 37 7 156555850 156555850 + Missense_Mutation SNP G G A TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr7:156555850G>A ENST00000353442.4 - 7 807 c.571C>T c.(571-573)Ccc>Tcc p.P191S LMBR1_ENST00000540390.1_Missense_Mutation_p.P170S|LMBR1_ENST00000359422.4_Missense_Mutation_p.P39S|LMBR1_ENST00000354505.4_Missense_Mutation_p.P191S NM_022458.3 NP_071903.2 Q8WVP7 LMBR1_HUMAN limb development membrane protein 1 191 integral to membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 18 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.208) TATAAATAGGGTAGATAGAAC 0.279000 4 48 0 0 1 0 0 SNX20 124460 broad.mit.edu 37 16 50707378 50707378 + Missense_Mutation SNP C C T TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr16:50707378C>T ENST00000330943.4 - 4 1061 c.890G>A c.(889-891)cGg>cAg p.R297Q SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron NM_182854.2 NP_878274.1 Q7Z614 SNX20_HUMAN sorting nexin 20 297 cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1) 15 CGTGGGCCTCCGGAGCTGGCT 0.667000 30 79 0 0 1 0 0 EXTL2 2135 broad.mit.edu 37 1 101343193 101343193 + Missense_Mutation SNP T T C TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr1:101343193T>C ENST00000370114.3 - 3 1708 c.272A>G c.(271-273)aAt>aGt p.N91S EXTL2_ENST00000535414.1_Missense_Mutation_p.N78S|EXTL2_ENST00000370113.3_Missense_Mutation_p.N91S NM_001033025.2|NM_001261440.1 NP_001028197.1|NP_001248369.1 Q9UBQ6 EXTL2_HUMAN exostosin-like glycosyltransferase 2 91 N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 14 all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195) TTTGTGCAGATTTGGTACAGC 0.418000 4 136 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142281245 142281245 + Silent SNP C C T TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr3:142281245C>T ENST00000350721.4 - 4 1120 c.999G>A c.(997-999)gtG>gtA p.V333V ATR_ENST00000383101.3_Silent_p.V333V NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 333 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GCCGCATGAGCACACCGTCTT 0.388000 Other conserved DNA damage response genes 4 93 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10921985 10921985 + Silent SNP T T C TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr21:10921985T>C ENST00000298232.7 - 17 1351 c.984A>G c.(982-984)ggA>ggG p.G328G TPTE_ENST00000361285.4_Silent_p.G346G|TPTE_ENST00000342420.5_Silent_p.G308G|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 346 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAACCATAGTTCCTGTTCTAT 0.328000 7 84 0 0 1 0 0 ERAS 3266 broad.mit.edu 37 X 48687675 48687675 + Missense_Mutation SNP G G A TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chrX:48687675G>A ENST00000338270.1 + 1 393 c.142G>A c.(142-144)Ggc>Agc p.G48S NM_181532.2 NP_853510.1 Q7Z444 RASE_HUMAN ES cell expressed Ras 48 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 14 TGTGGTGGTGGGCGCCAGTGG 0.642000 6 27 0 0 1 0 0 POLD1 5424 broad.mit.edu 37 19 50910398 50910398 + Silent SNP G G A TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr19:50910398G>A ENST00000440232.2 + 13 1706 c.1653G>A c.(1651-1653)caG>caA p.Q551Q POLD1_ENST00000599857.1_Silent_p.Q551Q|POLD1_ENST00000595904.1_Silent_p.Q551Q NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 551 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) GTCGTGGCCAGCAGGTCAAGG 0.662000 DNA polymerases (catalytic subunits) 11 45 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155176790 155176790 + Silent SNP G G A TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr4:155176790G>A ENST00000357232.3 - 21 5456 c.5457C>T c.(5455-5457)aaC>aaT p.N1819N NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1819 Cadherin 16. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CAATCAGGCCGTTCAAACCAC 0.408000 4 53 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283076 152283076 + Missense_Mutation SNP C C T TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr1:152283076C>T ENST00000368799.1 - 3 4321 c.4286G>A c.(4285-4287)gGc>gAc p.G1429D FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1429 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) CCCTGACTGGCCACGTGCGGA 0.557000 Ichthyosis 5 298 0 0 1 0 0 TPD52L2 7165 broad.mit.edu 37 20 62500710 62500710 + Silent SNP C C T TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr20:62500710C>T ENST00000217121.5 + 2 153 c.81C>T c.(79-81)gtC>gtT p.V27V TPD52L2_ENST00000348257.5_Silent_p.V27V|TPD52L2_ENST00000369927.4_Intron|TPD52L2_ENST00000346249.4_Silent_p.V27V|TPD52L2_ENST00000351424.4_Silent_p.V27V|TPD52L2_ENST00000352482.4_Silent_p.V27V|TPD52L2_ENST00000358548.4_Silent_p.V27V NM_199360.2 NP_955392.1 O43399 TPD54_HUMAN tumor protein D52-like 2 27 regulation of cell proliferation perinuclear region of cytoplasm protein binding|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09) ATGTTCCTGTCGACACAGGTG 0.532000 4 109 0 0 1 0 0 PCBP2 5094 broad.mit.edu 37 12 53849149 53849149 + Missense_Mutation SNP G G A TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr12:53849149G>A ENST00000603815.1 + 3 438 c.88G>A c.(88-90)Gga>Aga p.G30R PCBP2_ENST00000359282.5_Missense_Mutation_p.G30R|PCBP2_ENST00000437231.1_Missense_Mutation_p.G30R|PCBP2_ENST00000541275.1_Missense_Mutation_p.G30R|PCBP2_ENST00000552296.2_Missense_Mutation_p.G30R|PCBP2_ENST00000552819.1_Missense_Mutation_p.G30R|PCBP2_ENST00000548933.1_Missense_Mutation_p.G30R|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000455667.3_Missense_Mutation_p.G30R|PCBP2_ENST00000447282.1_Missense_Mutation_p.G30R|PCBP2_ENST00000439930.3_Missense_Mutation_p.G30R|PCBP2_ENST00000549863.1_Missense_Mutation_p.G30R|PCBP2_ENST00000359462.5_Missense_Mutation_p.G30R|PCBP2_ENST00000546463.1_Missense_Mutation_p.G30R NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4 NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1 Q15366 PCBP2_HUMAN poly(rC) binding protein 2 30 KH 1. innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 CAGTATCATCGGAAAGGTAAG 0.338000 18 37 0 0 1 0 0 EHMT1 79813 broad.mit.edu 37 9 140728828 140728828 + Missense_Mutation SNP C C T TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr9:140728828C>T ENST00000460843.1 + 26 3595 c.3568C>T c.(3568-3570)Cgg>Tgg p.R1190W NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 1190 SET. DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) CATCGACGCGCGGTTCTACGG 0.682000 12 64 0 0 1 0 0 CDX4 1046 broad.mit.edu 37 X 72667524 72667524 + Silent SNP G G A TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chrX:72667524G>A ENST00000373514.2 + 1 435 c.435G>A c.(433-435)aaG>aaA p.K145K NM_005193.1 NP_005184.1 O14627 CDX4_HUMAN caudal type homeobox 4 145 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1) 18 Renal(35;0.156) GCGCCGCCAAGGCCAGTTCCC 0.637000 9 28 0 0 1 0 0 AKAP8 10270 broad.mit.edu 37 19 15472604 15472604 + Missense_Mutation SNP A A C TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr19:15472604A>C ENST00000269701.2 - 11 1392 c.1332T>G c.(1330-1332)atT>atG p.I444M NM_005858.3 NP_005849.1 O43823 AKAP8_HUMAN A kinase (PRKA) anchor protein 8 444 signal transduction nuclear matrix breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2) 26 GCCGCTTCTCAATTTTCTTAT 0.448000 15 78 0 0 1 0 0 ZNF624 57547 broad.mit.edu 37 17 16537944 16537944 + Splice_Site SNP C C T TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr17:16537944C>T ENST00000311331.7 - 4 371 c.280_splice c.e4+1 p.G94_splice ZNF624_ENST00000579983.1_5'UTR NM_020787.3 NP_065838.2 Q9P2J8 ZN624_HUMAN zinc finger protein 624 94 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 26 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TTATCCTTACCCAGGGAGACC 0.433000 21 69 0 0 1 0 0 INPP4A 3631 broad.mit.edu 37 2 99137191 99137191 + Frame_Shift_Del DEL T T - TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr2:99137191delT ENST00000074304.5 + 4 541 c.148delT c.(148-150)tafs p.L50fs INPP4A_ENST00000409463.1_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000545415.1_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000409540.3_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000409016.3_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000523221.1_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000409851.3_Frame_Shift_Del_p.L50fs NM_001134224.1 NP_001127696.1 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type I, 107kDa 50 C2. signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4) 43 AGAATTTAGCTTAGGTAGGTA 0.303 2 4 --- --- --- --- PTMA 5757 broad.mit.edu 37 2 232574924 232574924 + Frame_Shift_Del DEL G G - TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr2:232574924delG ENST00000410064.1 + 1 434 c.36delG c.(34-36)gtfs p.V12fs PTMA_ENST00000466801.1_Intron|PTMA_ENST00000409683.1_Intron|PTMA_ENST00000409321.1_Intron|PTMA_ENST00000409115.3_Intron|PTMA_ENST00000341369.7_Intron P06454 PTMA_HUMAN prothymosin, alpha 0 transcription, DNA-dependent nucleus lung(3)|ovary(1)|prostate(1)|skin(1) 6 Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142) Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) TGGCGGCAGTGGGGCGTCGAG 0.721 2 4 --- --- --- --- SEMA3B 7869 broad.mit.edu 37 3 50308562 50308563 + RNA INS - - G TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr3:50308562_50308563insG ENST00000418948.1 + 0 728_729 Q13214 SEM3B_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B axon guidance|cell-cell signaling endoplasmic reticulum|extracellular region|membrane receptor activity central_nervous_system(2)|kidney(1)|lung(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GAGGATGGCAAGGGGAAGAGTC 0.604 2 4 --- --- --- --- TRBV29-1 0 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 4 8 --- --- --- --- KCNMA1 3778 broad.mit.edu 37 10 78729785 78729786 + Frame_Shift_Ins INS - - T TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr10:78729785_78729786insT ENST00000286627.5 - 19 3084_3085 c.2132_2133insA c.(2131-2133)acafs p.T711fs KCNMA1_ENST00000372440.1_Frame_Shift_Ins_p.T711fs|KCNMA1_ENST00000286628.8_Frame_Shift_Ins_p.T769fs|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000404771.3_Frame_Shift_Ins_p.T769fs|KCNMA1_ENST00000354353.5_Frame_Shift_Ins_p.T772fs|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000406533.3_Frame_Shift_Ins_p.T773fs|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000404857.1_Frame_Shift_Ins_p.T711fs|KCNMA1_ENST00000372443.1_Frame_Shift_Ins_p.T711fs NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 706 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity p.K711fs*17(1) breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) CATTCCGTTGCTTTTTTTTTGG 0.505 7 124 --- --- --- --- KMT2A 4297 broad.mit.edu 37 11 118344185 118344186 + Frame_Shift_Ins INS - - C TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr11:118344185_118344186insC ENST00000534358.1 + 3 2334_2335 c.2311_2312insC c.(2311-2313)cccfs p.P771fs KMT2A_ENST00000389506.5_Frame_Shift_Ins_p.P771fs|KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.P771fs NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CTCACCTCTCACCCCCCCGTCT 0.450 7 194 --- --- --- --- SNORD3B-2 0 broad.mit.edu 37 17 18967234 18967234 + RNA DEL C C - TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr17:18967234delC ENST00000364880.1 - 0 215 GAAGGAAAAaccactcagacc 0.537 21 215 --- --- --- --- NKX2-2 4821 broad.mit.edu 37 20 21492758 21492759 + Frame_Shift_Del DEL CC CC - TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chr20:21492758_21492759delCC ENST00000377142.4 - 2 980_981 c.624_625delGG c.(622-627)tttcfs p.LV208fs NKX2-2-AS1_ENST00000549659.1_RNA NM_002509.3 NP_002500.1 O95096 NKX22_HUMAN NK2 homeobox 2 208 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 CCGTCCCTGACCAAGACGGGCA 0.668 11 35 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76909650 76909659 + Frame_Shift_Del DEL AGCTCCGCTG AGCTCCGCTG - TCGA-S9-A6WQ-01A-12D-A34A-08 TCGA-S9-A6WQ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793a2b14-18e7-4283-9c06-0119aa484ea8 95df5b40-cef6-4d01-a82b-12a206dc5eca g.chrX:76909650_76909659delAGCTCCGCTG ENST00000373344.5 - 14 4460_4469 c.4246_4255delCAGCGGAGCT c.(4246-4257)atfs p.QRSY1416fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.QRSY1378fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1416 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.R1417L(2)|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) TTCTGTTTATAGCTCCGCTGATTTTCTTCC 0.314 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 17 115 --- --- --- ---