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 LRP3 4037 broad.mit.edu 37 19 33687683 33687683 + Splice_Site SNP G G C TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr19:33687683G>C ENST00000253193.7 + 2 323 c.121_splice c.e2+1 p.A41_splice LRP3_ENST00000592484.1_3'UTR NM_002333.3 NP_002324.2 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 3 41 receptor-mediated endocytosis coated pit|integral to membrane receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2) 15 Esophageal squamous(110;0.137) TCCTGCCTTAGGTAAGTAAGC 0.552000 35 55 0 0 1 0 0 PAK4 0 broad.mit.edu 37 19 39660328 39660328 + Missense_Mutation SNP G G C TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr19:39660328G>C ENST00000599386.1 + 3 316 c.135G>C c.(133-135)gaG>gaC p.E45D PAK4_ENST00000360442.3_Missense_Mutation_p.E45D|PAK4_ENST00000358301.3_Missense_Mutation_p.E45D|PAK4_ENST00000321944.4_Missense_Mutation_p.E45D|PAK4_ENST00000593690.1_Missense_Mutation_p.E45D|PAK4_ENST00000599470.1_Missense_Mutation_p.E45D|PAK4_ENST00000435673.2_Missense_Mutation_p.E45D NM_001014835.1 NP_001014835.1 O96013 PAK4_HUMAN p21 protein (Cdc42/Rac)-activated kinase 4 45 Linker. cellular component movement|signal transduction Golgi apparatus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 13 all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454) Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113) TGATCGAGGAGTCGGCTCGCC 0.706000 28 9 0 0 1 0 0 KIAA1683 80726 broad.mit.edu 37 19 18376865 18376865 + Silent SNP G G C TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr19:18376865G>C ENST00000392413.3 - 3 1700 c.1485C>G c.(1483-1485)acC>acG p.T495T KIAA1683_ENST00000600328.2_Silent_p.T495T|KIAA1683_ENST00000600359.2_Silent_p.T449T NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 495 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CTGGCAGGCGGGTCTGGGGTG 0.572000 100 56 0 0 1 0 0 UBA1 7317 broad.mit.edu 37 X 47060923 47060923 + Missense_Mutation SNP T T C TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chrX:47060923T>C ENST00000335972.6 + 8 908 c.725T>C c.(724-726)tTt>tCt p.F242S UBA1_ENST00000377351.4_Missense_Mutation_p.F242S NM_003334.3 NP_003325.2 P22314 UBA1_HUMAN ubiquitin-like modifier activating enzyme 1 242 2 approximate repeats. cell death|protein modification process ATP binding|ligase activity|protein binding|small protein activating enzyme activity breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CGACACGGGTTTGAGAGCGGG 0.547000 11 31 0 0 1 0 0 CREB5 9586 broad.mit.edu 37 7 28610154 28610154 + Splice_Site SNP G G C TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr7:28610154G>C ENST00000357727.2 + 5 853 c.464_splice c.e5+1 p.G155_splice CREB5_ENST00000409603.1_Splice_Site_p.G122_splice|CREB5_ENST00000396299.2_Splice_Site_p.G122_splice|CREB5_ENST00000396300.2_Splice_Site_p.G148_splice NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 155 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 CCGCCAGATCGGGTAAGGAGC 0.572000 40 22 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141756660 141756660 + Missense_Mutation SNP C C T TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr7:141756660C>T ENST00000475668.2 + 30 3665 c.3611C>T c.(3610-3612)aCa>aTa p.T1204I MGAM_ENST00000549489.2_Missense_Mutation_p.T1204I O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1204 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CCTGCCTTGACATACCGCACC 0.517000 9 28 0 0 1 0 0 TNRC6C 57690 broad.mit.edu 37 17 76045946 76045946 + Missense_Mutation SNP G G A TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr17:76045946G>A ENST00000335749.4 + 3 1372 c.803G>A c.(802-804)gGg>gAg p.G268E TNRC6C_ENST00000301624.4_Missense_Mutation_p.G268E|TNRC6C_ENST00000544502.1_Missense_Mutation_p.G268E|TNRC6C_ENST00000588061.1_Missense_Mutation_p.G268E|TNRC6C_ENST00000541771.1_Missense_Mutation_p.G268E|TNRC6C_ENST00000588847.1_Missense_Mutation_p.G268E NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 268 Gly-rich.|Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) TTCAGTCAGGGGAATGGAGAC 0.493000 30 115 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80660253 80660253 + Missense_Mutation SNP G G A TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr12:80660253G>A ENST00000458043.2 + 20 2226 c.2220G>A c.(2218-2220)atG>atA p.M740I OTOGL_ENST00000547103.1_Missense_Mutation_p.M740I NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 AGAAGGGCATGCTGTACCATC 0.483000 4 22 0 0 1 0 0 DNMT3B 1789 broad.mit.edu 37 20 31381340 31381340 + Splice_Site SNP A A G TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr20:31381340A>G ENST00000328111.2 + 10 1387 c.e10-1 DNMT3B_ENST00000344505.4_Intron|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000348286.2_Intron|DNMT3B_ENST00000201963.3_Intron|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000353855.2_Intron|DNMT3B_ENST00000443239.3_Intron NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 tcccctcaaaagtggttaata 0.388000 14 21 0 0 1 0 0 RS1 6247 broad.mit.edu 37 X 18660259 18660259 + Silent SNP C C T TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chrX:18660259C>T ENST00000379984.3 - 6 580 c.540G>A c.(538-540)tcG>tcA p.S180S CDKL5_ENST00000379996.3_Intron|CDKL5_ENST00000379989.3_Intron|RS1_ENST00000476595.1_5'UTR NM_000330.3 NP_000321.1 O15537 XLRS1_HUMAN retinoschisin 1 180 F5/8 type C. cell adhesion|multicellular organismal development|response to stimulus|visual perception extracellular space cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1) 15 Hepatocellular(33;0.183) AGGTGCGGTCCGAGTTGCCAT 0.587000 48 40 0 0 1 0 0 MT-ND5 4540 broad.mit.edu 37 MT 12769 12769 + Missense_Mutation SNP G G C TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chrM:12769G>C ENST00000361567.2 + 1 433 c.433G>C c.(433-435)Gag>Cag p.E145Q P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 145 E -> G (in MELAS). mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) TCATCGGCTGAGAGGGCGTAG 0.418000 36 111 0 0 1 0 0 BTN3A3 10384 broad.mit.edu 37 6 26448652 26448652 + Missense_Mutation SNP A A G TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr6:26448652A>G ENST00000244519.2 + 6 1135 c.892A>G c.(892-894)Aca>Gca p.T298A BTN3A3_ENST00000339789.4_Missense_Mutation_p.T256A|BTN3A3_ENST00000361232.3_Missense_Mutation_p.T256A NM_006994.4 NP_008925.1 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 298 integral to membrane cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 ATACGCTGCAACAGAGCAAGA 0.498000 23 39 0 0 1 0 0 AC092850.1 0 broad.mit.edu 37 12 131781266 131781266 + Missense_Mutation SNP A A G TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr12:131781266A>G ENST00000598023.1 + 1 1200 c.326A>G c.(325-327)aAg>aGg p.K109R RP11-495K9.3_ENST00000508505.2_lincRNA AGCTGTGGGAAGGGGAAGCAT 0.662000 3 5 0 0 1 0 0 LIG4 3981 broad.mit.edu 37 13 108861426 108861426 + Missense_Mutation SNP T T C TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr13:108861426T>C ENST00000356922.4 - 2 2463 c.2191A>G c.(2191-2193)Aag>Gag p.K731E LIG4_ENST00000405925.1_Missense_Mutation_p.K731E|LIG4_ENST00000442234.1_Missense_Mutation_p.K731E NM_002312.3|NM_206937.1 NP_002303.2|NP_996820.1 P49917 DNLI4_HUMAN ligase IV, DNA, ATP-dependent 731 BRCT 1. cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) CTTTTGGTCTTAAAACATTCT 0.383000 Non-homologous end-joining 26 45 0 0 1 0 0 CREBRF 153222 broad.mit.edu 37 5 172513552 172513552 + Missense_Mutation SNP C C G TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr5:172513552C>G ENST00000540014.1 + 3 377 c.58C>G c.(58-60)Cac>Gac p.H20D CREBRF_ENST00000520420.1_Missense_Mutation_p.H20D|CREBRF_ENST00000296953.2_Missense_Mutation_p.H20D|CREBRF_ENST00000522692.1_Missense_Mutation_p.H20D Q8IUR6 CE041_HUMAN CREB3 regulatory factor 20 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity CTTTCGAAGCCACACCTTTTC 0.408000 50 27 0 0 1 0 0 NPM1 4869 broad.mit.edu 37 5 170819814 170819814 + Silent SNP T T A TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr5:170819814T>A ENST00000296930.5 + 5 754 c.453T>A c.(451-453)gtT>gtA p.V151V NPM1_ENST00000393820.2_Silent_p.V151V|NPM1_ENST00000351986.6_Silent_p.V151V|NPM1_ENST00000517671.1_Silent_p.V151V NM_002520.6 NP_002511.1 P06748 NPM_HUMAN nucleophosmin (nucleolar phosphoprotein B23, numatrin) 151 Required for interaction with SENP3. anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding NPM1/ALK(632) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 4269 Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GTAGCAAGGTTCCACAGGTAG 0.408000 """T, F """ """ALK, RARA, MLF1""" """NHL, APL, AML""" 37 64 0 0 1 0 0 TBXAS1 6916 broad.mit.edu 37 7 139715631 139715631 + Nonsense_Mutation SNP G G A TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr7:139715631G>A ENST00000263552.6 + 15 1876 c.1338G>A c.(1336-1338)tgG>tgA p.W446* TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000416849.2_Nonsense_Mutation_p.W492*|TBXAS1_ENST00000425687.1_Nonsense_Mutation_p.W378*|TBXAS1_ENST00000458722.1_Nonsense_Mutation_p.W491*|TBXAS1_ENST00000448866.1_Nonsense_Mutation_p.W445*|TBXAS1_ENST00000336425.5_Nonsense_Mutation_p.W445*|TBXAS1_ENST00000414508.2_Nonsense_Mutation_p.W446*|TBXAS1_ENST00000411653.1_Nonsense_Mutation_p.W445*|TBXAS1_ENST00000436047.2_Nonsense_Mutation_p.W446* NM_001130966.2 NP_001124438.1 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 445 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) CTGAGCACTGGCCAAGCCCGG 0.597000 19 43 0 0 1 0 0 ROCK2 9475 broad.mit.edu 37 2 11426743 11426743 + Missense_Mutation SNP G G C TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr2:11426743G>C ENST00000315872.6 - 3 694 c.246C>G c.(244-246)atC>atG p.I82M ROCK2_ENST00000462366.1_5'UTR NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 82 axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) GTAGACCTCTGATTTTTTTCA 0.279000 42 196 0 0 1 0 0 DZIP3 9666 broad.mit.edu 37 3 108373036 108373036 + Missense_Mutation SNP C C A TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr3:108373036C>A ENST00000361582.3 + 19 2308 c.2078C>A c.(2077-2079)gCa>gAa p.A693E DZIP3_ENST00000463306.1_Missense_Mutation_p.A693E NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 693 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 AAAGAACAAGCAAATCCACAC 0.373000 36 59 6.05902e-23 7.2283e-23 1 1 0 LILRB5 0 broad.mit.edu 37 19 54760423 54760423 + Missense_Mutation SNP C C T TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr19:54760423C>T ENST00000450632.1 - 3 361 c.284G>A c.(283-285)cGa>cAa p.R95Q LILRB5_ENST00000449561.2_Missense_Mutation_p.R95Q|LILRB5_ENST00000316219.5_Missense_Mutation_p.R95Q|LILRB5_ENST00000345866.6_Missense_Mutation_p.R95Q O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 95 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GCAGCGGTATCGCCCTGCACT 0.627000 111 135 0 0 1 0 0 GPR45 11250 broad.mit.edu 37 2 105859066 105859066 + Missense_Mutation SNP C C T rs112504064 TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr2:105859066C>T ENST00000258456.1 + 1 867 c.751C>T c.(751-753)Cgg>Tgg p.R251W NM_007227.3 NP_009158.3 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 251 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 GCGCCTGCAGCGGCAGCAACA 0.652000 82 77 0 0 1 0 0 KCNH2 3757 broad.mit.edu 37 7 150648140 150648140 + Missense_Mutation SNP G G A TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr7:150648140G>A ENST00000392968.2 - 6 2846 c.1726C>T c.(1726-1728)Cgc>Tgc p.R576C KCNH2_ENST00000262186.5_Missense_Mutation_p.R672C|KCNH2_ENST00000330883.4_Missense_Mutation_p.R332C|KCNH2_ENST00000430723.3_Missense_Mutation_p.R672C Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 672 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GTGTGGTAGCGGGCTGTGCCC 0.652000 18 35 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12501523 12501523 + Silent SNP T T C TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr19:12501523T>C ENST00000419318.1 - 4 2342 c.1593A>G c.(1591-1593)caA>caG p.Q531Q CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Silent_p.Q563Q Q96GE5 ZN799_HUMAN zinc finger protein 799 563 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TACCACATTGTTGACACTCAT 0.413000 17 116 0 0 1 0 0 ADCK3 56997 broad.mit.edu 37 1 227174205 227174205 + Missense_Mutation SNP G G A TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr1:227174205G>A ENST00000366779.1 + 20 4482 c.1711G>A c.(1711-1713)Gcc>Acc p.A571T ADCK3_ENST00000366775.1_Missense_Mutation_p.A416T|ADCK3_ENST00000458507.2_Missense_Mutation_p.A292T|ADCK3_ENST00000433743.2_Missense_Mutation_p.A245T|ADCK3_ENST00000366777.3_Missense_Mutation_p.A571T|ADCK3_ENST00000366776.1_Missense_Mutation_p.A496T|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366778.1_Missense_Mutation_p.A519T Q8NI60 ADCK3_HUMAN aarF domain containing kinase 3 571 cell death mitochondrion ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 9 GGAGGCCTTCGCCTCTGATGA 0.592000 32 41 0 0 1 0 0 RNF113B 140432 broad.mit.edu 37 13 98829047 98829047 + Silent SNP C C T TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr13:98829047C>T ENST00000267291.6 - 1 472 c.444G>A c.(442-444)cgG>cgA p.R148R FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron NM_178861.4 NP_849192.1 Q8IZP6 R113B_HUMAN ring finger protein 113B 148 nucleic acid binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) TGTGGATTCCCCGGTAGATGT 0.647000 11 51 0 0 1 0 0 PNMA5 114824 broad.mit.edu 37 X 152159976 152159976 + Missense_Mutation SNP A A T TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chrX:152159976A>T ENST00000439251.1 - 2 605 c.167T>A c.(166-168)tTc>tAc p.F56Y PNMA5_ENST00000361887.5_Missense_Mutation_p.F56Y|PNMA5_ENST00000452693.1_Missense_Mutation_p.F56Y|PNMA5_ENST00000535214.1_Missense_Mutation_p.F56Y NM_001103150.1 NP_001096620.1 Q96PV4 PNMA5_HUMAN paraneoplastic Ma antigen family member 5 56 apoptosis breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) ttccctcctgaacattctccc 0.522000 56 99 0 0 1 0 0 UNC13B 10497 broad.mit.edu 37 9 35381192 35381192 + Nonsense_Mutation SNP C C T TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr9:35381192C>T ENST00000378495.3 + 18 2446 c.2224C>T c.(2224-2226)Cag>Tag p.Q742* UNC13B_ENST00000396787.1_Nonsense_Mutation_p.Q754*|UNC13B_ENST00000378496.4_Nonsense_Mutation_p.Q742* NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 742 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) ATACCACGTGCAGTATACATG 0.537000 18 31 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285416 16285416 + Silent SNP G G T rs146449749 TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr17:16285416G>T ENST00000302182.3 + 2 587 c.195G>T c.(193-195)tcG>tcT p.S65S UBB_ENST00000578649.1_Intron|UBB_ENST00000395837.1_Silent_p.S65S|UBB_ENST00000535788.1_Silent_p.S65S|UBB_ENST00000395839.1_Silent_p.S65S NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 65 Ubiquitin-like 1. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AGAAGGAGTCGACCCTGCACC 0.562000 4 125 0.014758 0.0149783 1 1 0 TTC27 55622 broad.mit.edu 37 2 33036105 33036105 + Silent SNP A A T TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr2:33036105A>T ENST00000317907.4 + 17 2244 c.2013A>T c.(2011-2013)ctA>ctT p.L671L NM_001193509.1|NM_017735.4 NP_001180438.1|NP_060205.3 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 671 protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 TTAAAATTCTAGTCAGGGCAG 0.403000 34 80 0 0 1 0 0 ZKSCAN3 80317 broad.mit.edu 37 6 28333707 28333707 + Missense_Mutation SNP C C A TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr6:28333707C>A ENST00000377255.3 + 7 1559 c.1262C>A c.(1261-1263)aCt>aAt p.T421N ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.T273N|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.T421N NM_001242894.1 NP_001229823.1 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 421 positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1) 21 AGAATCCACACTGGGGAGAAG 0.502000 34 21 8.16721e-17 9.41305e-17 1 1 0 HTRA4 203100 broad.mit.edu 37 8 38834215 38834215 + Missense_Mutation SNP T T C TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr8:38834215T>C ENST00000302495.4 + 3 828 c.728T>C c.(727-729)aTt>aCt p.I243T NM_153692.3 NP_710159.1 P83105 HTRA4_HUMAN HtrA serine peptidase 4 243 Serine protease. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 11 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) GTCAAGGATATTGACCTTAAA 0.433000 21 25 0 0 1 0 0 ZNF284 342909 broad.mit.edu 37 19 44591382 44591382 + Missense_Mutation SNP T T G TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr19:44591382T>G ENST00000421176.3 + 5 1967 c.1751T>G c.(1750-1752)aTg>aGg p.M584R ZNF223_ENST00000591793.1_3'UTR NM_001037813.2 NP_001032902.1 Q2VY69 ZN284_HUMAN zinc finger protein 284 584 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0435) AATCTAGATATGATTTTATCA 0.338000 17 18 0 0 1 0 0 PHRF1 57661 broad.mit.edu 37 11 587405 587405 + Missense_Mutation SNP G G C TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr11:587405G>C ENST00000264555.5 + 4 489 c.361G>C c.(361-363)Ggg>Cgg p.G121R PHRF1_ENST00000416188.2_Missense_Mutation_p.G121R|PHRF1_ENST00000533464.1_Missense_Mutation_p.G117R|PHRF1_ENST00000413872.2_Missense_Mutation_p.G120R NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 121 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 CCAGGCCGTGGGGACGCCGGA 0.552000 16 54 0 0 1 0 0 OR13C8 138802 broad.mit.edu 37 9 107331463 107331463 + Silent SNP C C T TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr9:107331463C>T ENST00000335040.1 + 1 15 c.15C>T c.(13-15)aaC>aaT p.N5N NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 5 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 AAAGGACCAACGATTCCACGT 0.408000 50 5 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23886383 23886383 + Missense_Mutation SNP G G A rs45544633 TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr14:23886383G>A ENST00000355349.3 - 32 4660 c.4498C>T c.(4498-4500)Cgg>Tgg p.R1500W NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1500 R -> P (in MPD1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.R1500W(1) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TTGTTCTCCCGCTTGAAGGTC 0.597000 90 8 0 0 1 0 0 PGAM4 441531 broad.mit.edu 37 X 77224931 77224931 + Missense_Mutation SNP T T A TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chrX:77224931T>A ENST00000458128.1 - 1 204 c.205A>T c.(205-207)Aca>Tca p.T69S ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron NM_001029891.2 NP_001025062.1 Q8N0Y7 PGAM4_HUMAN phosphoglycerate mutase family member 4 69 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity endometrium(2)|lung(4) 6 TCTAGCACTGTCCAGAGGGTC 0.577000 90 112 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578479 7578479 + Missense_Mutation SNP G G A rs28934874 TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr17:7578479G>A ENST00000420246.2 - 5 583 c.451C>T c.(451-453)Ccc>Tcc p.P151S TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S|TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000269305.4_Missense_Mutation_p.P151S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 151 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (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.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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) CCGGGCGGGGGTGTGGAATCA 0.612000 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) 25 4 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197071386 197071386 + Missense_Mutation SNP C C A TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr1:197071386C>A ENST00000367409.4 - 18 7251 c.6995G>T c.(6994-6996)cGa>cTa p.R2332L ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 2332 IQ 22. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 GTGCATCTCTCGCATCCTTTT 0.403000 40 44 5.43694e-19 6.37434e-19 1 1 0 SLC15A3 51296 broad.mit.edu 37 11 60707095 60707095 + Missense_Mutation SNP T T A TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr11:60707095T>A ENST00000227880.3 - 6 1525 c.1292A>T c.(1291-1293)gAg>gTg p.E431V NM_016582.2 NP_057666.1 Q8IY34 S15A3_HUMAN solute carrier family 15 (oligopeptide transporter), member 3 431 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2) 17 GTGTAAGCGCTCCATCTCCAG 0.592000 14 30 0 0 1 0 0 SNRPC 6631 broad.mit.edu 37 6 34725706 34725706 + Missense_Mutation SNP G G A TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr6:34725706G>A ENST00000374017.3 + 1 376 c.89G>A c.(88-90)tGc>tAc p.C30Y SNRPC_ENST00000244520.5_Missense_Mutation_p.C9Y|SNRPC_ENST00000374018.1_Intron|SNRPC_ENST00000474635.1_3'UTR P09234 RU1C_HUMAN small nuclear ribonucleoprotein polypeptide C 9 spliceosomal snRNP assembly Cajal body|U1 snRNP protein homodimerization activity|single-stranded RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1) 6 TGTGACTACTGCGATACATAC 0.368000 20 40 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125082754 125082754 + Nonsense_Mutation SNP G G A TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr8:125082754G>A ENST00000522917.1 + 30 4087 c.3881G>A c.(3880-3882)tGg>tAg p.W1294* FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Nonsense_Mutation_p.W1294* NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1294 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TTTGAAGACTGGGTGAAAACT 0.418000 16 88 0 0 1 0 0 THAP8 199745 broad.mit.edu 37 19 36526381 36526381 + Silent SNP G G T TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr19:36526381G>T ENST00000292894.1 - 4 1330 c.786C>A c.(784-786)gcC>gcA p.A262A AC002116.7_ENST00000586962.1_RNA|THAP8_ENST00000538849.1_Silent_p.A117A NM_152658.2 NP_689871.1 Q8NA92 THAP8_HUMAN THAP domain containing 8 262 DNA binding|metal ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 8 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GCTCCGGCTTGGCATCCACTG 0.537000 16 69 3.45872e-05 3.79343e-05 1 1 0 MT-ND5 4540 broad.mit.edu 37 MT 12698 12698 + Missense_Mutation SNP T T C TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chrM:12698T>C ENST00000361567.2 + 1 362 c.362T>C c.(361-363)cTa>cCa p.L121P P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 121 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) CTTCAAATATCTACTCATTTT 0.363000 72 28 0 0 1 0 0 RP11-262H14.1 0 broad.mit.edu 37 9 66458013 66458013 + RNA SNP G G T rs149927749 by1000genomes TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr9:66458013G>T ENST00000424345.1 + 0 67 CGGTGCTGCAGTGGCGGATCT 0.716000 3 15 0.115264 0.115264 1 1 0 SORCS3 22986 broad.mit.edu 37 10 107015549 107015549 + Silent SNP G G A TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr10:107015549G>A ENST00000369701.3 + 24 3554 c.3327G>A c.(3325-3327)caG>caA p.Q1109Q NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 1109 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) ATGTCACACAGCTGACGTTAG 0.443000 27 34 0 0 1 0 0 FHOD3 80206 broad.mit.edu 37 18 34297864 34297864 + Missense_Mutation SNP G G A TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr18:34297864G>A ENST00000257209.4 + 16 2200 c.2078G>A c.(2077-2079)cGg>cAg p.R693Q FHOD3_ENST00000445677.1_Missense_Mutation_p.R655Q|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000359247.4_Missense_Mutation_p.R676Q|FHOD3_ENST00000590592.1_Missense_Mutation_p.R868Q NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 676 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) ACCAACAAACGGTTCATGCTT 0.542000 49 59 0 0 1 0 0 GPRASP1 9737 broad.mit.edu 37 X 101912152 101912152 + Missense_Mutation SNP C C T TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chrX:101912152C>T ENST00000537097.1 + 6 4124 c.3311C>T c.(3310-3312)cCt>cTt p.P1104L RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.P1104L|GPRASP1_ENST00000415986.1_Missense_Mutation_p.P1104L|GPRASP1_ENST00000361600.5_Missense_Mutation_p.P1104L NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 1104 OPRD1-binding. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TTGCTTCAGCCTGATCAGCCT 0.488000 101 93 0 0 1 0 0 DROSHA 29102 broad.mit.edu 37 5 31464365 31464365 + Missense_Mutation SNP C C A TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr5:31464365C>A ENST00000511367.2 - 19 2796 c.2552G>T c.(2551-2553)gGc>gTc p.G851V DROSHA_ENST00000442743.1_Missense_Mutation_p.G814V|DROSHA_ENST00000344624.3_Missense_Mutation_p.G851V|DROSHA_ENST00000513349.1_Missense_Mutation_p.G814V NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 851 Necessary for interaction with DGCR8 and pri-miRNA processing activity. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 AGAACGGATGCCAGTTTTCCA 0.428000 13 27 3.45872e-05 3.79343e-05 1 1 0 USP1 7398 broad.mit.edu 37 1 62908931 62908931 + Missense_Mutation SNP T T A TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr1:62908931T>A ENST00000339950.4 + 5 1313 c.498T>A c.(496-498)aaT>aaA p.N166K USP1_ENST00000371146.1_Missense_Mutation_p.N166K NM_003368.4 NP_003359.3 O94782 UBP1_HUMAN ubiquitin specific peptidase 1 166 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 19 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) TTCTCTTAAATCCAGAGAAAT 0.368000 30 37 0 0 1 0 0 ZNF358 140467 broad.mit.edu 37 19 7585559 7585559 + Silent SNP A A G TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr19:7585559A>G ENST00000597229.1 + 2 1601 c.1431A>G c.(1429-1431)aaA>aaG p.K477K ZNF358_ENST00000394341.2_Silent_p.K477K NM_018083.4 NP_060553.4 Q9NW07 ZN358_HUMAN zinc finger protein 358 477 embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2) 8 ccagctccaaacccctccccg 0.682000 12 27 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 4 76 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178916930 178916930 + Missense_Mutation SNP G G T TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr3:178916930G>T ENST00000263967.3 + 2 474 c.317G>T c.(316-318)gGc>gTc p.G106V NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 106 PI3K-ABD. G -> V (in cancer; shows an increase in lipid kinase activity). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.G106V(6)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.G106A(1)|p.E103_G106>D(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GAACCAGTAGGCAACCGTGAA 0.348000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 102 38 3.37413e-40 4.09715e-40 1 1 0 USP1 7398 broad.mit.edu 37 1 62910418 62910418 + Frame_Shift_Del DEL C C - TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr1:62910418delC ENST00000339950.4 + 6 1382 c.567delC c.(565-567)aafs p.N189fs USP1_ENST00000371146.1_Frame_Shift_Del_p.N189fs NM_003368.4 NP_003359.3 O94782 UBP1_HUMAN ubiquitin specific peptidase 1 189 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 19 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) GGGAACTCAACCCTATGTATG 0.303 27 39 --- --- --- --- RP11-417J8.6 0 broad.mit.edu 37 1 142637066 142637068 + RNA DEL AAG AAG - rs71220658 TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr1:142637066_142637068delAAG ENST00000369381.2 - 0 2507 RP11-417J8.3_ENST00000426408.1_lincRNA GACAAAAAACAAGAAGAACATTG 0.335 3 4 --- --- --- --- C1orf106 55765 broad.mit.edu 37 1 200881172 200881172 + Frame_Shift_Del DEL C C - rs296521 by1000genomes TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr1:200881172delC ENST00000367342.4 + 9 2006 c.1806delC c.(1804-1806)cgfs p.R602fs C1orf106_ENST00000413687.2_Frame_Shift_Del_p.R517fs|C1orf106_ENST00000465162.1_3'UTR NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 602 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 GGAGCACCCGCCCCCACTCAC 0.716 2 4 --- --- --- --- OR2T7 81458 broad.mit.edu 37 1 248604559 248604560 + Frame_Shift_Ins INS - - TC rs58223479 by1000genomes TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr1:248604559_248604560insTC ENST00000460972.3 + 1 52_53 c.52_53insTC c.(52-54)cttfs p.L18fs olfactory receptor, family 2, subfamily T, member 7 TTCCCCTGGCTTCTTTGCCCTC 0.515 2 4 --- --- --- --- MYT1L 23040 broad.mit.edu 37 2 1946857 1946859 + In_Frame_Del DEL CTC CTC - TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr2:1946857_1946859delCTC ENST00000399161.2 - 9 1147_1149 c.400_402delGAG c.(400-402)del p.E134del MYT1L_ENST00000428368.2_In_Frame_Del_p.E134del NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 134 Asp/Glu-rich. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) cctcctcgatctcctcctcctcc 0.576 4 4 --- --- --- --- AC018730.3 0 broad.mit.edu 37 2 105488532 105488533 + RNA DEL AC AC - TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr2:105488532_105488533delAC ENST00000433433.1 - 0 207 RP11-13J10.1_ENST00000598623.1_RNA|AC018730.3_ENST00000434764.1_RNA acacacacagacacacacacac 0.614 3 5 --- --- --- --- EIF4G1 1981 broad.mit.edu 37 3 184039744 184039746 + In_Frame_Del DEL GAA GAA - TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr3:184039744_184039746delGAA ENST00000342981.4 + 9 1786_1788 c.1372_1374delGAA c.(1372-1374)del p.E465del EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF2B5_ENST00000444495.1_Intron NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 465 Poly-Glu. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGAGGAAATGgaagaagaagaag 0.562 7 226 --- --- --- --- AF146191.4 0 broad.mit.edu 37 4 190821799 190821800 + RNA INS - - T rs140638219 by1000genomes TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr4:190821799_190821800insT ENST00000511785.1 - 0 231 TTTTTTGTTTGTTTTTTACTTA 0.317 2 4 --- --- --- --- CTD-2143L24.1 0 broad.mit.edu 37 5 9827711 9827712 + RNA DEL CA CA - rs148705567 TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr5:9827711_9827712delCA ENST00000511616.1 - 0 521 NR_027112.2 tggtggcatgcacacacacaca 0.510 2 4 --- --- --- --- RP11-1023L17.1 0 broad.mit.edu 37 5 34188323 34188324 + RNA INS - - AA rs142623845 by1000genomes TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr5:34188323_34188324insAA ENST00000514048.1 - 0 43 gaaatccaggcaagtttgctgt 0.525 2 4 --- --- --- --- C7orf43 55262 broad.mit.edu 37 7 99755809 99755809 + Frame_Shift_Del DEL G G - TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr7:99755809delG ENST00000316937.3 - 1 499 c.314delC c.(313-315)cafs p.P105fs NM_018275.3 NP_060745.3 Q8WVR3 CG043_HUMAN chromosome 7 open reading frame 43 105 Gly-rich. breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1) 10 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCCTCCCCCTGGGGGCTCCGA 0.756 2 4 --- --- --- --- RP11-238K6.1 0 broad.mit.edu 37 8 138879742 138879742 + RNA DEL T T - rs74726943 TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr8:138879742delT ENST00000518973.1 - 0 514 RP11-238K6.2_ENST00000519652.1_lincRNA ggaaaatgtcttaagggcatg 0.453 5 1 --- --- --- --- TPM2 7169 broad.mit.edu 37 9 35682764 35682765 + Frame_Shift_Ins INS - - G rs138163723 by1000genomes TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr9:35682764_35682765insG ENST00000378300.5 - 9 994_995 c.909_910insC c.(907-912)ccggctfs p.A304fs TPM2_ENST00000329305.2_Intron|TPM2_ENST00000378292.3_Intron P07951 TPM2_HUMAN tropomyosin 2 (beta) 0 muscle filament sliding|regulation of ATPase activity cytosol|muscle thin filament tropomyosin actin binding|structural constituent of muscle NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_epithelial(49;0.121) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AGCGACAGCCAGGGAGTGCCTG 0.609 6 2 --- --- --- --- RP11-764K9.1 0 broad.mit.edu 37 9 68406889 68406889 + RNA DEL G G - rs141841413 by1000genomes TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr9:68406889delG ENST00000417843.2 - 0 224 atccagggcagtcatagtggt 0.498 3 6 --- --- --- --- RP11-464F9.1 0 broad.mit.edu 37 10 75486922 75486923 + RNA INS - - A rs11387949 TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr10:75486922_75486923insA ENST00000399449.3 - 0 427 BMS1P4_ENST00000584747.1_RNA|RP11-574K11.28_ENST00000580790.1_RNA GCTAACTTAGTAAAGTATAAGA 0.386 6 11 --- --- --- --- C10orf137 26098 broad.mit.edu 37 10 127414264 127414266 + In_Frame_Del DEL GGA GGA - TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr10:127414264_127414266delGGA ENST00000337623.3 + 6 754_756 c.649_651delGGA c.(649-651)del p.G217del C10orf137_ENST00000356792.4_In_Frame_Del_p.G217del NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 217 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) CAATGGTGATGGAGCCGCTCAGC 0.448 21 31 --- --- --- --- RP11-313F23.4 0 broad.mit.edu 37 12 34358038 34358038 + RNA DEL T T - TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr12:34358038delT ENST00000545923.2 - 0 221 CAAGCTACCCTTTAGGGACAT 0.677 2 4 --- --- --- --- AE000661.37 0 broad.mit.edu 37 14 22933391 22933391 + RNA DEL C C - rs36090939 TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr14:22933391delC ENST00000514473.2 - 0 225 TRDC_ENST00000390477.2_RNA|AE000661.37_ENST00000556777.1_RNA TTAGAAATGGCTAAGAAACCA 0.408 6 0 --- --- --- --- LINC00644 0 broad.mit.edu 37 14 62604476 62604477 + RNA DEL TC TC - TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr14:62604476_62604477delTC ENST00000555156.1 - 0 65 caagaccctgtctcaaaaaaaa 0.465 2 4 --- --- --- --- USP10 9100 broad.mit.edu 37 16 84778803 84778803 + Frame_Shift_Del DEL C C - TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr16:84778803delC ENST00000219473.7 + 4 829 c.716delC c.(715-717)gafs p.A239fs USP10_ENST00000570191.1_Frame_Shift_Del_p.A243fs|USP10_ENST00000562743.1_3'UTR NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 239 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 ACCAGGACTGCAGGGCAGCCA 0.627 19 3 --- --- --- --- AFG3L1P 0 broad.mit.edu 37 16 90056104 90056104 + RNA DEL T T - rs36089706 TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr16:90056104delT ENST00000437774.1 + 0 831 NR_003226.1 CCTTTCAGAAttttttttttt 0.547 3 3 --- --- --- --- SAFB2 9667 broad.mit.edu 37 19 5594052 5594066 + In_Frame_Del DEL CGCTCCCGCTCCATG CGCTCCCGCTCCATG - TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr19:5594052_5594066delCGCTCCCGCTCCATG ENST00000252542.4 - 15 2307_2321 c.2043_2057delCATGGAGCGGGAGCG c.(2041-2058)cgg>cg p.RMERER681del NM_014649.2 NP_055464.1 Q14151 SAFB2_HUMAN scaffold attachment factor B2 681 Arg-rich.|Glu-rich.|Interacts with SAFB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) GCGCTCCAGCCGCTCCCGCTCCATGCGCTCCCGCT 0.716 14 11 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11051960 11051960 + RNA DEL T T - TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr21:11051960delT ENST00000470054.1 - 0 487 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gtaactgcagtttttgacatt 0.338 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11063160 11063161 + RNA INS - - A rs147852817 TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr21:11063160_11063161insA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) aaacgctatccaaaaaatgcag 0.282 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11068910 11068911 + RNA DEL AT AT - rs147061174 TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr21:11068910_11068911delAT ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ttctcttatcatatgtgtaatt 0.282 4 5 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11075075 11075077 + RNA DEL ACC ACC - rs4009967 TCGA-N7-A59B-01A-11D-A28R-08 TCGA-N7-A59B-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c136f0c7-c211-4ac9-a755-1ac6b32b1196 8cc077f9-7398-4135-b4c3-dc18247f0879 g.chr21:11075075_11075077delACC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ttgagaaactaccacttctcaag 0.325 2 4 --- --- --- ---