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 MCM10 55388 broad.mit.edu 37 10 13222503 13222503 + Missense_Mutation SNP C C G TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr10:13222503C>G ENST00000378694.1 + 6 901 c.826C>G c.(826-828)Ctg>Gtg p.L276V MCM10_ENST00000378714.3_Missense_Mutation_p.L276V|MCM10_ENST00000484800.2_Missense_Mutation_p.L277V Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 277 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 ACTGATCAGACTGTCTCAGAT 0.433000 30 105 0 0 1 0 0 PIEZO2 63895 broad.mit.edu 37 18 10681658 10681658 + Splice_Site SNP G G A TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr18:10681658G>A ENST00000302079.6 - 46 7250 c.7251_splice c.e46+1 p.T2417_splice PIEZO2_ENST00000285141.4_Splice_Site_p.T272_splice|PIEZO2_ENST00000538948.1_Splice_Site_p.T437_splice|PIEZO2_ENST00000503781.3_Splice_Site_p.T2480_splice|PIEZO2_ENST00000580640.1_Splice_Site_p.T2505_splice Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2480 integral to membrane ion channel activity p.T2480T(1)|p.T272T(1) ATTTACTTACGGTGTCCCTAG 0.413000 9 118 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30701411 30701411 + Missense_Mutation SNP C C T TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr8:30701411C>T ENST00000256246.2 - 1 5197 c.5123G>A c.(5122-5124)aGg>aAg p.R1708K NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1708 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTCTAAGTGCCTTTTTTTGTT 0.373000 8 117 0 0 1 0 0 IGHV7-81 0 broad.mit.edu 37 14 107283098 107283098 + RNA SNP T T A TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr14:107283098T>A ENST00000390639.2 - 0 100 AGTAGGTACCTGTGGAGAGGA 0.592000 25 94 0 0 1 0 0 KLK6 5653 broad.mit.edu 37 19 51462421 51462421 + Nonstop_Mutation SNP C C A TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr19:51462421C>A ENST00000376851.3 - 6 1173 c.734G>T c.(733-735)tGa>tTa p.*245L KLK6_ENST00000594641.1_Nonstop_Mutation_p.*245L|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000310157.2_Nonstop_Mutation_p.*245L|KLK6_ENST00000391808.1_Nonstop_Mutation_p.*138L|KLK6_ENST00000456750.2_Nonstop_Mutation_p.*138L|KLK6_ENST00000376853.4_Missense_Mutation_p.D117Y NM_001012964.1 NP_001012982.1 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 0 amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) ATGTCAGGGTCACTTGGCCTG 0.547000 5 160 5.9392e-07 6.33515e-07 1 1 0 SULT1A1 6817 broad.mit.edu 37 16 28617448 28617448 + Missense_Mutation SNP T T G rs35728980 TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr16:28617448T>G ENST00000395609.1 - 9 1462 c.704A>C c.(703-705)aAc>aCc p.N235T SULT1A1_ENST00000395607.1_Missense_Mutation_p.N235T|SULT1A1_ENST00000314752.7_Missense_Mutation_p.N235T|SULT1A1_ENST00000350842.4_Missense_Mutation_p.N157T|SULT1A1_ENST00000569554.1_Missense_Mutation_p.N235T P50225 ST1A1_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 235 N -> T (in dbSNP:rs35728980). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2) 16 GGTCATAGGGTTCTTCTTCAT 0.572000 6 285 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81142879 81142879 + RNA SNP T T C TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr16:81142879T>C ENST00000525539.1 - 0 7004 PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000534142.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GAACGGAGTTTCCAACCAAAT 0.522000 6 20 0 0 1 0 0 REEP1 65055 broad.mit.edu 37 2 86509292 86509292 + Splice_Site SNP C C T TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr2:86509292C>T ENST00000165698.5 - 2 249 c.e2+1 REEP1_ENST00000541910.1_Splice_Site|REEP1_ENST00000538924.1_Splice_Site|REEP1_ENST00000535845.1_Intron|REEP1_ENST00000540790.1_Splice_Site|REEP1_ENST00000473407.1_Splice_Site NM_022912.2 NP_075063.1 Q9H902 REEP1_HUMAN receptor accessory protein 1 cell death|protein insertion into membrane integral to membrane|mitochondrial membrane olfactory receptor binding breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 13 GTGCTACTTACATATTCCTTA 0.463000 86 169 0 0 1 0 0 CHRNA6 8973 broad.mit.edu 37 8 42612159 42612159 + Missense_Mutation SNP G G A TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr8:42612159G>A ENST00000276410.2 - 4 641 c.286C>T c.(286-288)Cgc>Tgc p.R96C CHRNA6_ENST00000534622.1_Missense_Mutation_p.R81C|CHRNA6_ENST00000530869.1_5'UTR NM_004198.3 NP_004189.1 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 (neuronal) 96 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1) 22 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) GGATCCCAGCGCAATTTATAA 0.403000 5 85 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 4 76 0 0 1 0 0 PCDHAC1 0 broad.mit.edu 37 5 140308830 140308830 + Missense_Mutation SNP A A T TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr5:140308830A>T ENST00000253807.2 + 1 2353 c.2353A>T c.(2353-2355)Act>Tct p.T785S PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.T785S NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAATCTTGCCACTGGGGTAGG 0.453000 7 141 0 0 1 0 0 DYRK3 8444 broad.mit.edu 37 1 206821946 206821946 + Missense_Mutation SNP G G A TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr1:206821946G>A ENST00000367106.1 + 4 1816 c.1343G>A c.(1342-1344)cGc>cAc p.R448H DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Missense_Mutation_p.R468H|DYRK3_ENST00000367108.3_Missense_Mutation_p.R448H O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 468 Protein kinase. erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2) 25 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) GTGGGGGGTCGCTCACGTAGG 0.522000 6 243 0 0 1 0 0 ABHD4 63874 broad.mit.edu 37 14 23072942 23072942 + Missense_Mutation SNP C C T TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr14:23072942C>T ENST00000428304.2 + 4 668 c.598C>T c.(598-600)Cgt>Tgt p.R200C ABHD4_ENST00000544562.1_3'UTR NM_022060.2 NP_071343.2 Q8TB40 ABHD4_HUMAN abhydrolase domain containing 4 200 lipid catabolic process hydrolase activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1) 14 all_cancers(95;5.49e-05) GBM - Glioblastoma multiforme(265;0.0153) TGTCCTAGGACGTTCCAATCC 0.567000 8 104 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12969474 12969474 + Silent SNP C C T TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr19:12969474C>T ENST00000251472.4 + 12 1326 c.1287C>T c.(1285-1287)gcC>gcT p.A429A MAST1_ENST00000591495.1_Silent_p.A425A NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 429 Protein kinase. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 TCACCTTCGCCGAGAACCCGT 0.572000 16 37 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4944525 4944525 + Missense_Mutation SNP G G A TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr16:4944525G>A ENST00000345988.2 - 12 1426 c.1337C>T c.(1336-1338)cCg>cTg p.P446L PPL_ENST00000590782.2_Missense_Mutation_p.P444L NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 446 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 ACACACGGCCGGAGCAATCAG 0.632000 4 73 0 0 1 0 0 PCDHGA12 0 broad.mit.edu 37 5 140810561 140810561 + Missense_Mutation SNP C C T TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr5:140810561C>T ENST00000252085.3 + 1 377 c.235C>T c.(235-237)Ccg>Tcg p.P79S PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCCTGAATCCGCGCAGCGG 0.627000 16 157 0 0 1 0 0 RP11-178C3.2 0 broad.mit.edu 37 17 58066651 58066651 + RNA SNP C C T rs144367363 by1000genomes TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr17:58066651C>T ENST00000586209.1 + 0 158 ACTGGTAAAGCTGTTTAAGAG 0.333000 3 22 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A rs121912651 TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr17:7577539G>A ENST00000420246.2 - 7 874 c.742C>T c.(742-744)Cgg>Tgg p.R248W TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGGGCCTCCGGTTCATGCCG 0.577000 R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE) 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) 40 34 0 0 1 0 0 FAM114A1 92689 broad.mit.edu 37 4 38907402 38907402 + Missense_Mutation SNP C C T TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr4:38907402C>T ENST00000358869.2 + 6 753 c.577C>T c.(577-579)Cct>Tct p.P193S FAM114A1_ENST00000515037.1_5'UTR NM_138389.2 NP_612398.2 Q8IWE2 NXP20_HUMAN family with sequence similarity 114, member A1 193 cytoplasm haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 20 AGATCAGGGCCCTGCAGAAAG 0.488000 6 95 0 0 1 0 0 HEATR5B 54497 broad.mit.edu 37 2 37229591 37229591 + Silent SNP C C T TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr2:37229591C>T ENST00000233099.5 - 32 5270 c.5175G>A c.(5173-5175)cgG>cgA p.R1725R HEATR5B_ENST00000354531.2_Intron NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1725 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) GTGGCATATGCCGTACTAAAA 0.478000 4 112 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144895057 144895057 + Silent SNP G G T TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr8:144895057G>T ENST00000356994.2 - 8 723 c.717C>A c.(715-717)ctC>ctA p.L239L SCRIB_ENST00000320476.3_Silent_p.L239L|SCRIB_ENST00000377533.3_Silent_p.L158L NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 239 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CCAGCCCGCCGAGCTCAGCAG 0.687000 5 46 1.23904e-05 1.29291e-05 1 1 0 TBP 6908 broad.mit.edu 37 6 170871043 170871043 + Silent SNP G G A TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr6:170871043G>A ENST00000392092.2 + 3 498 c.219G>A c.(217-219)caG>caA p.Q73Q TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 73 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q73Q(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcaacagcaacagcagc 0.562000 4 51 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161578 90161578 + RNA SNP G G A rs13337896 by1000genomes TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr16:90161578G>A ENST00000564451.1 + 0 931 TUBB8P7_ENST00000567960.1_RNA p.R105H(3) GCCAAGGGACGCTACACCGAA 0.587000 4 46 0 0 1 0 0 EFEMP1 2202 broad.mit.edu 37 2 56103869 56103869 + Missense_Mutation SNP C C T TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr2:56103869C>T ENST00000394555.2 - 7 1204 c.769G>A c.(769-771)Gaa>Aaa p.E257K EFEMP1_ENST00000394554.1_Missense_Mutation_p.E257K|EFEMP1_ENST00000424836.2_Intron|EFEMP1_ENST00000355426.3_Missense_Mutation_p.E257K NM_001039348.2|NM_001039349.2 NP_001034437.1|NP_001034438.1 Q12805 FBLN3_HUMAN EGF containing fibulin-like extracellular matrix protein 1 257 EGF-like 4; calcium-binding (Potential). negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GCATCACATTCATTTATATCT 0.308000 33 53 0 0 1 0 0 CDA 978 broad.mit.edu 37 1 20940378 20940378 + Missense_Mutation SNP C C A TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr1:20940378C>A ENST00000375071.3 + 3 492 c.310C>A c.(310-312)Caa>Aaa p.Q104K CDA_ENST00000461985.1_Intron NM_001785.2 NP_001776.1 P32320 CDD_HUMAN cytidine deaminase 104 cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage cytosol|extracellular region cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 7 Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199) Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441) GGCCTGCAGGCAAGTCATGAG 0.498000 4 94 1 1 1 1 0 ZNF276 92822 broad.mit.edu 37 16 89799951 89799951 + Missense_Mutation SNP G G A TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr16:89799951G>A ENST00000289816.5 + 8 1429 c.1117G>A c.(1117-1119)Gct>Act p.A373T ZNF276_ENST00000446326.2_Missense_Mutation_p.A234T|ZNF276_ENST00000568064.1_Missense_Mutation_p.A356T|ZNF276_ENST00000443381.2_Missense_Mutation_p.A448T NM_152287.3 NP_689500.2 Q8N554 ZN276_HUMAN zinc finger protein 276 448 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) GTACCGAGGCGCTGACGGCAT 0.622000 24 52 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 5 23 0 0 1 0 0 CCDC73 493860 broad.mit.edu 37 11 32697529 32697529 + Missense_Mutation SNP G G T TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr11:32697529G>T ENST00000335185.5 - 8 511 c.468C>A c.(466-468)gaC>gaA p.D156E CCDC73_ENST00000534415.1_5'UTR NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 156 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) GCTTATGATAGTCTTCTTTAG 0.323000 5 194 0.00116845 0.00119331 1 1 0 PRSS3P2 0 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 3 32 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11141499 11141499 + Missense_Mutation SNP G G A TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr19:11141499G>A ENST00000358026.2 + 25 3760 c.3476G>A c.(3475-3477)gGg>gAg p.G1159E SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1159E|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1159E|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1159E|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1159E|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1159E|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1159E|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1159E|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1159E NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1159 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.L1161fs*3(1)|p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) ACCCGGGCTGGGGGGCTCGGC 0.617000 """F, N, Mis""" NSCLC 3 15 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3424149 3424149 + RNA SNP C C T rs112841660 TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr11:3424149C>T ENST00000529482.1 + 0 808 TCATAGAGGACGAAGACTTCT 0.562000 3 18 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871049 170871049 + Silent SNP G G A rs10592951 TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr6:170871049G>A ENST00000392092.2 + 3 504 c.225G>A c.(223-225)caG>caA p.Q75Q TBP_ENST00000540980.1_Silent_p.Q55Q|TBP_ENST00000230354.6_Silent_p.Q75Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 75 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q75Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) aacagcaacagcagcagcagc 0.567000 5 49 0 0 1 0 0 LMBRD2 92255 broad.mit.edu 37 5 36141229 36141229 + Nonsense_Mutation SNP C C T TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr5:36141229C>T ENST00000296603.4 - 4 810 c.348G>A c.(346-348)tgG>tgA p.W116* NM_001007527.1 NP_001007528.1 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 116 integral to membrane breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATTGTGACGTCCAATACACTA 0.313000 6 103 0 0 1 0 0 LCK 3932 broad.mit.edu 37 1 32740031 32740031 + Missense_Mutation SNP G G A TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr1:32740031G>A ENST00000333070.4 + 2 201 c.101G>A c.(100-102)gGc>gAc p.G34D LCK_ENST00000373564.3_Missense_Mutation_p.G34D|LCK_ENST00000336890.5_Missense_Mutation_p.G34D NM_001042771.1 NP_001036236.1 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 34 Interactions with CD4 and CD8 (By similarity). activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) GATGGCAAGGGCACGGTAAGA 0.532000 T TRB@ T-ALL 20 44 0 0 1 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105924248 105924248 + Missense_Mutation SNP G G C TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr2:105924248G>C ENST00000393359.2 - 2 937 c.511C>G c.(511-513)Ctc>Gtc p.L171V TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.L171V Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 171 CNH. regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 GCCACAGCGAGGGGCTGCTCG 0.557000 45 100 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126682516 126682516 + Silent SNP G G A TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr10:126682516G>A ENST00000309035.6 - 6 2569 c.2439C>T c.(2437-2439)ggC>ggT p.G813G CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000337195.5_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 273 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CCACCAGGCCGCCACGGGCTG 0.582000 4 172 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 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 36 52 0 0 1 0 0 SLC1A4 6509 broad.mit.edu 37 2 65245298 65245298 + Silent SNP C C T TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr2:65245298C>T ENST00000234256.3 + 6 1371 c.1128C>T c.(1126-1128)acC>acT p.T376T SLC1A4_ENST00000531327.1_Silent_p.T78T NM_003038.4 NP_003029.2 P43007 SATT_HUMAN solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 376 cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic intermediate filament|melanosome chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1) 13 L-Alanine(DB00160) TCGGGGCCACCGTGAACATGG 0.517000 39 42 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C 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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(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) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 7 25 0 0 1 0 0 SLC35F5 80255 broad.mit.edu 37 2 114513952 114513953 + Translation_Start_Site INS - - A TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr2:114513952_114513953insA ENST00000409342.1 - 0 244_245 SLC35F5_ENST00000245680.2_Frame_Shift_Ins_p.A12fs Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 transport integral to membrane endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1) 20 CCTACCTGGCCTTCCTGCCCCG 0.733 2 4 --- --- --- --- NYAP2 57624 broad.mit.edu 37 2 226516154 226516157 + Frame_Shift_Del DEL AAGT AAGT - rs151101366 by1000genomes TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr2:226516154_226516157delAAGT ENST00000272907.6 + 6 2248_2251 c.1835_1838delAAGT c.(1834-1839)aafs p.KV612fs NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 612 CCAGAGCCTAAAGTAAGCTGCAAA 0.475 9 191 --- --- --- --- ZBTB20 26137 broad.mit.edu 37 3 114070470 114070478 + In_Frame_Del DEL TGCACTGAC TGCACTGAC - TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr3:114070470_114070478delTGCACTGAC ENST00000462705.1 - 11 1049_1057 c.228_236delGTCAGTGCA c.(226-237)caa>ca p.QSVQ76del ZBTB20_ENST00000464560.1_In_Frame_Del_p.QSVQ76del|ZBTB20_ENST00000474710.1_In_Frame_Del_p.QSVQ149del|ZBTB20_ENST00000471418.1_In_Frame_Del_p.QSVQ76del|ZBTB20_ENST00000357258.3_In_Frame_Del_p.QSVQ76del|ZBTB20_ENST00000481632.1_In_Frame_Del_p.QSVQ76del|ZBTB20_ENST00000393785.2_In_Frame_Del_p.QSVQ76del NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 149 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V78G(1) breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) AATGAGCTTTTGCACTGACTGCACTGACA 0.598 9 55 --- --- --- --- CTD-2324F15.2 0 broad.mit.edu 37 5 6337066 6337067 + RNA DEL AC AC - TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr5:6337066_6337067delAC ENST00000507444.1 - 0 143 NR_028351.1 acacatacatacacacacacac 0.475 2 4 --- --- --- --- RP11-3P22.2 0 broad.mit.edu 37 7 68876843 68876843 + RNA DEL A A - TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr7:68876843delA ENST00000435148.1 - 0 156 CGCTCAGTTTATGCAGCAGCC 0.498 2 4 --- --- --- --- TNPO3 23534 broad.mit.edu 37 7 128655167 128655169 + In_Frame_Del DEL AAG AAG - TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr7:128655167_128655169delAAG ENST00000393245.1 - 4 789_791 c.416_418delCTT c.(415-420)ttg>t p.SL139del TNPO3_ENST00000482320.1_In_Frame_Del_p.SL73del|TNPO3_ENST00000265388.5_In_Frame_Del_p.SL139del|TNPO3_ENST00000471166.1_In_Frame_Del_p.SL139del|TNPO3_ENST00000471234.1_In_Frame_Del_p.SL139del NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 139 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 AAAAAAGGCAAAGAAGTCACATC 0.365 8 71 --- --- --- --- FAM66D 0 broad.mit.edu 37 8 11994626 11994627 + RNA DEL GT GT - rs138516564 by1000genomes TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr8:11994626_11994627delGT ENST00000434078.2 + 0 608 NR_027425.1 gtatttgtgcgtgtgtgtgtgt 0.510 8 121 --- --- --- --- ADAM28 10863 broad.mit.edu 37 8 24167482 24167485 + Splice_Site DEL AAGT AAGT - TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr8:24167482_24167485delAAGT ENST00000265769.4 + 3 336_337 c.227_splice c.e3+1 p.76_splice ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Splice_Site_p.76_splice|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 76 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) GAAAAAAAACAAGTAAGTATCTTT 0.348 8 146 --- --- --- --- RP11-123M6.2 0 broad.mit.edu 37 14 101311732 101311734 + RNA DEL CCT CCT - rs61149909 TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr14:101311732_101311734delCCT ENST00000554041.1 - 0 143 CCTCATCCGCCCTCCTCCTCCTC 0.606 3 3 --- --- --- --- PPM1E 22843 broad.mit.edu 37 17 56833644 56833646 + In_Frame_Del DEL GAG GAG - TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr17:56833644_56833646delGAG ENST00000308249.2 + 1 415_417 c.286_288delGAG c.(286-288)del p.E100del NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 100 Glu-rich.|Pro-rich. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) ggttgagggtgaggaggaggagg 0.783 2 4 --- --- --- --- SMC1B 27127 broad.mit.edu 37 22 45804658 45804660 + In_Frame_Del DEL AGA AGA - TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chr22:45804658_45804660delAGA ENST00000357450.4 - 2 228_230 c.229_231delTCT c.(229-231)del p.S77del SMC1B_ENST00000404354.3_In_Frame_Del_p.S77del NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 77 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TTACACTTGCAGAAGAAGAAATA 0.291 7 110 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76938182 76938183 + Frame_Shift_Del DEL TG TG - TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chrX:76938182_76938183delTG ENST00000373344.5 - 9 2779_2780 c.2565_2566delCA c.(2563-2568)cagcfs p.HS855fs ATRX_ENST00000395603.3_Frame_Shift_Del_p.HS817fs|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 855 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) CCTTTTTTGCTGTGTTTCTCAT 0.356 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 48 56 --- --- --- --- ZNF711 7552 broad.mit.edu 37 X 84526116 84526117 + Frame_Shift_Del DEL AT AT - TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33b54500-b50b-4368-8406-71015c43b929 c08e86a2-b582-4880-b58b-ee7ac9193ec1 g.chrX:84526116_84526117delAT ENST00000360700.4 + 10 2592_2593 c.1706_1707delAT c.(1705-1707)cfs p.H569fs ZNF711_ENST00000276123.3_Frame_Shift_Del_p.H523fs|ZNF711_ENST00000542798.1_Frame_Shift_Del_p.H365fs|ZNF711_ENST00000395402.1_Frame_Shift_Del_p.H531fs|ZNF711_ENST00000373165.3_Frame_Shift_Del_p.H523fs Q9Y462 ZN711_HUMAN zinc finger protein 711 523 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 CTCAAGAAACATATGAGAACCC 0.396 7 36 --- --- --- ---