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 OPHN1 4983 broad.mit.edu 37 X 67413796 67413796 + Splice_Site SNP T T C TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chrX:67413796T>C ENST00000355520.5 - 14 1780 c.e14-2 OPHN1_ENST00000540071.1_Splice_Site NM_002547.2 NP_002538.1 O60890 OPHN1_HUMAN oligophrenin 1 axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2) 31 TTAGCTCCACTGTTTCAAGCA 0.408000 14 32 0 0 1 0 0 SCAPER 49855 broad.mit.edu 37 15 77087752 77087752 + Missense_Mutation SNP C C T TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr15:77087752C>T ENST00000563290.1 - 8 736 c.641G>A c.(640-642)cGt>cAt p.R214H SCAPER_ENST00000538941.2_5'UTR|SCAPER_ENST00000324767.7_Missense_Mutation_p.R214H|SCAPER_ENST00000562890.1_5'UTR Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 213 endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 GGGAGCCAGACGAGGAGCTGG 0.418000 4 58 0 0 1 0 0 PCDHGA1 0 broad.mit.edu 37 5 140711256 140711256 + Silent SNP C C A TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr5:140711256C>A ENST00000517417.1 + 1 1005 c.1005C>A c.(1003-1005)atC>atA p.I335I PCDHGA1_ENST00000378105.3_Silent_p.I335I NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTACTGATCAAAGTTTTGG 0.418000 34 58 3.86903e-22 4.2873e-22 1 1 0 LONRF3 79836 broad.mit.edu 37 X 118123490 118123490 + Missense_Mutation SNP C C A TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chrX:118123490C>A ENST00000365713.2 + 3 1219 c.1056C>A c.(1054-1056)gaC>gaA p.D352E LONRF3_ENST00000304778.7_Missense_Mutation_p.D352E|LONRF3_ENST00000371628.3_Missense_Mutation_p.D393E|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Missense_Mutation_p.D137E Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 3 393 proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 36 ACATGAAAGACCAGGAAGAAG 0.507000 4 51 0.150653 0.150653 1 1 0 RGPD3 653489 broad.mit.edu 37 2 107029596 107029596 + Missense_Mutation SNP T T C TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr2:107029596T>C ENST00000409886.3 - 22 5297 c.5210A>G c.(5209-5211)aAt>aGt p.N1737S RGPD3_ENST00000304514.7_Missense_Mutation_p.N1737S NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1737 GRIP. intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CAACATCGTATTTATAACAGG 0.438000 84 9 0 0 1 0 0 NUDT10 170685 broad.mit.edu 37 X 51076024 51076024 + Silent SNP G G A rs143435240 byFrequency TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chrX:51076024G>A ENST00000376006.3 + 2 427 c.207G>A c.(205-207)gaG>gaA p.E69E NUDT10_ENST00000356450.2_Silent_p.E69E NM_153183.2 NP_694853.1 Q8NFP7 NUD10_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 10 69 Nudix hydrolase. cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.E69E(8) cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 16 Ovarian(276;0.236) TGTACGAAGAGGCGGGAGTCA 0.657000 3 46 0 0 1 0 0 CHST13 166012 broad.mit.edu 37 3 126261320 126261320 + Missense_Mutation SNP C C T TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr3:126261320C>T ENST00000319340.2 + 3 975 c.925C>T c.(925-927)Cgg>Tgg p.R309W NM_152889.2 NP_690849.1 Q8NET6 CHSTD_HUMAN carbohydrate (chondroitin 4) sulfotransferase 13 309 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(114;0.151) GCGCCTCTTCCGGGACATCAG 0.692000 4 13 0 0 1 0 0 CCDC105 126402 broad.mit.edu 37 19 15133702 15133702 + Missense_Mutation SNP G G T TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr19:15133702G>T ENST00000292574.3 + 7 1353 c.1271G>T c.(1270-1272)tGc>tTc p.C424F NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 424 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 AAGCTGCAGTGCCACATCACG 0.617000 9 14 3.09899e-07 3.25791e-07 1 1 0 ABCA7 10347 broad.mit.edu 37 19 1056970 1056970 + Missense_Mutation SNP G G A TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr19:1056970G>A ENST00000263094.6 + 34 4882 c.4651G>A c.(4651-4653)Gcc>Acc p.A1551T ABCA7_ENST00000435683.2_Missense_Mutation_p.A1413T|ABCA7_ENST00000433129.1_Missense_Mutation_p.A1551T NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1551 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTTTGTCCCGGCCAGCTTCAC 0.592000 4 144 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 3 44 0 0 1 0 0 LRRC32 2615 broad.mit.edu 37 11 76371010 76371010 + Silent SNP G G A TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr11:76371010G>A ENST00000407242.2 - 3 1869 c.1627C>T c.(1627-1629)Ctg>Ttg p.L543L LRRC32_ENST00000260061.5_Silent_p.L543L|LRRC32_ENST00000404995.1_Silent_p.L543L|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 543 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 TTGTTTCGCAGGTCCAGCACC 0.637000 14 66 0 0 1 0 0 GABRP 2568 broad.mit.edu 37 5 170236583 170236583 + Missense_Mutation SNP G G A TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr5:170236583G>A ENST00000518525.1 + 10 1308 c.844G>A c.(844-846)Gtg>Atg p.V282M GABRP_ENST00000519598.1_Missense_Mutation_p.V282M|GABRP_ENST00000519385.1_Intron|GABRP_ENST00000265294.4_Missense_Mutation_p.V282M O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 282 cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGTGACGACCGTGTTATCAAT 0.517000 OREG0017032 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 79 78 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45127212 45127212 + Missense_Mutation SNP T T C TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr3:45127212T>C ENST00000296129.1 - 9 2563 c.2429A>G c.(2428-2430)cAt>cGt p.H810R NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 810 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) ATTGTTGGGATGGGAGAAGGT 0.552000 12 140 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec 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 23 29 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr17:7577120C>T ENST00000420246.2 - 8 950 c.818G>A c.(817-819)cGt>cAt p.R273H TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GGCACAAACACGCACCTCAAA 0.542000 R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM) 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) 42 2 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058322 11058322 + RNA SNP C C T TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr21:11058322C>T ENST00000470054.1 - 0 325 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) AAATGCACATCGCTGAAAGGG 0.383000 8 144 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304770 102304770 + RNA SNP C C T rs62026988 by1000genomes TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr15:102304770C>T ENST00000561463.1 + 0 12816 GGCACAGCGGCGTGACGAGAC 0.592000 4 15 0 0 1 0 0 TMCC2 9911 broad.mit.edu 37 1 205210633 205210633 + Splice_Site SNP A A G TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr1:205210633A>G ENST00000358024.3 + 2 597 c.207_splice c.e2-1 p.K70_splice TMCC2_ENST00000545499.1_5'UTR|TMCC2_ENST00000495538.1_3'UTR NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 70 integral to membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1) 20 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) CCCCCTTAAGAAAATCCAGCA 0.557000 34 33 0 0 1 0 0 FOS 2353 broad.mit.edu 37 14 75747676 75747676 + Missense_Mutation SNP C C T TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr14:75747676C>T ENST00000303562.4 + 4 901 c.692C>T c.(691-693)gCc>gTc p.A231V FOS_ENST00000555347.1_Missense_Mutation_p.A83V|FOS_ENST00000555686.1_Missense_Mutation_p.A117V|FOS_ENST00000535987.1_Missense_Mutation_p.A195V NM_005252.3 NP_005243.1 P01100 FOS_HUMAN FBJ murine osteosarcoma viral oncogene homolog 231 cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|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|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112) BRCA - Breast invasive adenocarcinoma(234;0.0117) CCAGAGGTTGCCACCCCGGAG 0.607000 4 153 0 0 1 0 0 MRPS12 6183 broad.mit.edu 37 19 39423018 39423018 + Missense_Mutation SNP C C T TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr19:39423018C>T ENST00000407800.2 + 2 436 c.95C>T c.(94-96)aCc>aTc p.T32I MRPS12_ENST00000402029.3_Missense_Mutation_p.T32I|CTC-360G5.8_ENST00000599996.1_Intron|MRPS12_ENST00000308018.4_Missense_Mutation_p.T32I|SARS2_ENST00000448145.2_Intron NM_021107.1 NP_066930.1 O15235 RT12_HUMAN mitochondrial ribosomal protein S12 32 translation mitochondrial ribosome|small ribosomal subunit protein binding|structural constituent of ribosome endometrium(1)|large_intestine(1) 2 all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) TCCATGGCTACCCTGAACCAG 0.652000 6 193 0 0 1 0 0 FBXL6 26233 broad.mit.edu 37 8 145580132 145580132 + Silent SNP G G A TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr8:145580132G>A ENST00000331890.5 - 7 1117 c.1053C>T c.(1051-1053)ccC>ccT p.P351P FBXL6_ENST00000526524.1_5'UTR|FBXL6_ENST00000455319.2_Silent_p.P345P NM_012162.2 NP_036294.1 Q8N531 FBXL6_HUMAN F-box and leucine-rich repeat protein 6 351 proteolysis ubiquitin-protein ligase activity endometrium(1)|lung(3)|ovary(1) 5 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) AGCCTGGTCCGGGAGCCACCC 0.652000 59 58 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 26 0 0 1 0 0 KRI1 65095 broad.mit.edu 37 19 10668901 10668901 + Silent SNP G G A TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr19:10668901G>A ENST00000312962.6 - 13 1246 c.1227C>T c.(1225-1227)gaC>gaT p.D409D KRI1_ENST00000361821.5_Silent_p.D405D NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 409 Glu-rich. NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) CGTAGTACTCGTCCCCAAAGC 0.602000 20 66 0 0 1 0 0 ABCB7 22 broad.mit.edu 37 X 74291461 74291461 + Nonsense_Mutation SNP C C A TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chrX:74291461C>A ENST00000253577.3 - 9 1117 c.1093G>T c.(1093-1095)Gag>Tag p.E365* ABCB7_ENST00000339447.4_Nonsense_Mutation_p.E324*|ABCB7_ENST00000373394.3_Nonsense_Mutation_p.E364*|ABCB7_ENST00000534570.1_5'UTR NM_001271696.1|NM_004299.3 NP_001258625.1|NP_004290.2 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 7 364 ABC transmembrane type-1. cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1) 20 GAAGCAGTCTCATACGTCTTC 0.333000 23 38 1.50039e-11 1.61884e-11 1 1 0 PABPC1L 80336 broad.mit.edu 37 20 43559296 43559296 + Missense_Mutation SNP C C T TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr20:43559296C>T ENST00000255136.3 + 8 1250 c.1168C>T c.(1168-1170)Cgg>Tgg p.R390W PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000217073.2_Missense_Mutation_p.R390W|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000217074.4_3'UTR NM_001124756.1 NP_001118228.1 Q4VXU2 PAP1L_HUMAN poly(A) binding protein, cytoplasmic 1-like 390 nucleotide binding|RNA binding breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 CTCCACCATGCGGACCCTGAG 0.647000 8 389 0 0 1 0 0 CYP39A1 51302 broad.mit.edu 37 6 46518143 46518143 + Missense_Mutation SNP G G A TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr6:46518143G>A ENST00000275016.2 - 12 1573 c.1370C>T c.(1369-1371)cCg>cTg p.P457L NM_016593.3 NP_057677.2 Q9NYL5 CP39A_HUMAN cytochrome P450, family 39, subfamily A, polypeptide 1 457 bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity EIF3K/CYP39A1(2) NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2) 21 TTGCCCTTCCGGCTGGGGGAC 0.458000 18 38 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43625420 43625420 + Silent SNP A A G TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr9:43625420A>G ENST00000332857.6 - 4 3295 c.3267T>C c.(3265-3267)tgT>tgC p.C1089C NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 ATGAGCCTTGACAGTTTGGGT 0.507000 143 185 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126776527 126776527 + Missense_Mutation SNP G G A TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr5:126776527G>A ENST00000274473.6 + 19 2597 c.2330G>A c.(2329-2331)cGc>cAc p.R777H MEGF10_ENST00000503335.2_Missense_Mutation_p.R777H NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 777 EGF-like 14.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) TGTACTTGCCGCACTGGATTC 0.468000 4 122 0 0 1 0 0 OR2B11 127623 broad.mit.edu 37 1 247614765 247614765 + Missense_Mutation SNP C C T TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr1:247614765C>T ENST00000318749.6 - 1 543 c.520G>A c.(520-522)Ggg>Agg p.G174R NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G174R(1) endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) ACCTGCCGCCCGCAGAATGGC 0.597000 4 52 0 0 1 0 0 LDHAL6B 92483 broad.mit.edu 37 15 59499792 59499792 + Missense_Mutation SNP G G A TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr15:59499792G>A ENST00000307144.4 + 1 751 c.653G>A c.(652-654)cGt>cAt p.R218H MYO1E_ENST00000288235.4_Intron NM_033195.2 NP_149972.1 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 218 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1) 10 NADH(DB00157) GATACTGCTCGTTTTCGTTTC 0.438000 5 124 0 0 1 0 0 LINC00202-1 0 broad.mit.edu 37 10 27223577 27223579 + RNA DEL AAT AAT - rs71673553 TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr10:27223577_27223579delAAT ENST00000431296.1 - 0 3159 NR_026795.1 TCTTACaaaaaataaataaataa 0.305 2 4 --- --- --- --- TNFSF9 8744 broad.mit.edu 37 19 6531149 6531151 + In_Frame_Del DEL GCT GCT - TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr19:6531149_6531151delGCT ENST00000245817.3 + 1 140_142 c.102_104delGCT c.(100-105)ggg>gg p.GL34del NM_003811.3 NP_003802.1 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, member 9 34 apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 5 TGGTCGCGGGgctgctgctgctg 0.768 7 104 --- --- --- --- CD3EAP 10849 broad.mit.edu 37 19 45911859 45911861 + In_Frame_Del DEL GAA GAA - TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr19:45911859_45911861delGAA ENST00000309424.3 + 3 1121_1123 c.633_635delGAA c.(631-636)cgg>cg p.RK211del ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 211 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) TGGATGTGCGGAAGAAGAAGAAG 0.581 7 200 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38119882 38119884 + In_Frame_Del DEL CCT CCT - TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chr22:38119882_38119884delCCT ENST00000406386.3 + 7 1574_1576 c.1319_1321delCCT c.(1318-1323)gcc>g p.AS440del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 440 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATCCCAGAGCCTCCTCTCCCAG 0.601 8 196 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76939758 76939762 + Frame_Shift_Del DEL TTTCT TTTCT - TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chrX:76939758_76939762delTTTCT ENST00000373344.5 - 9 1200_1204 c.986_990delAGAAA c.(985-990)afs p.KK329fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KK291fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 329 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AATCATCTAATTTCTTTTCTTCTCC 0.341 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 23 38 --- --- --- --- MAGEA6 4105 broad.mit.edu 37 X 151870011 151870011 + Frame_Shift_Del DEL G G - TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0bca7013-0c0a-4de7-81a7-f120b1770c3f e665f8dc-e32d-4c92-b2e0-bd7c101df2ec g.chrX:151870011delG ENST00000329342.5 + 3 926 c.701delG c.(700-702)agfs p.R234fs NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 234 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TTTGAGGGGAGGGAAGACAGT 0.532 144 218 --- --- --- ---