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 CCDC110 256309 broad.mit.edu 37 4 186392098 186392098 + Splice_Site SNP C C G TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr4:186392098C>G ENST00000307588.3 - 2 191 c.e2+1 CCDC110_ENST00000510617.1_Splice_Site|CCDC110_ENST00000507501.1_Splice_Site|CCDC110_ENST00000393540.3_Splice_Site NM_152775.3 NP_689988.1 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9) 30 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) GGCGATTTTACCTGTGTCACT 0.552000 35 123 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77672530 77672530 + Missense_Mutation SNP G G C TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr13:77672530G>C ENST00000407578.2 - 56 9025 c.8759C>G c.(8758-8760)tCt>tGt p.S2920C MYCBP2_ENST00000357337.6_Missense_Mutation_p.S2882C|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000360084.5_Missense_Mutation_p.S405C|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S2882C NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 2882 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CACATGGGGAGAGGGAGCTCT 0.473000 9 74 0 0 1 0 0 XRN1 54464 broad.mit.edu 37 3 142151666 142151666 + Missense_Mutation SNP C C T TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr3:142151666C>T ENST00000264951.4 - 2 262 c.145G>A c.(145-147)Gat>Aat p.D49N XRN1_ENST00000544157.1_5'UTR|XRN1_ENST00000392981.2_Missense_Mutation_p.D49N|XRN1_ENST00000463916.1_Missense_Mutation_p.D49N NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 49 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 TGAACATCATCATCATTAGGA 0.333000 5 58 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75884866 75884866 + Silent SNP G G A TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr6:75884866G>A ENST00000322507.8 - 13 2907 c.2598C>T c.(2596-2598)acC>acT p.T866T COL12A1_ENST00000416123.2_Silent_p.T866T|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Silent_p.T866T NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 866 Fibronectin type-III 5. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GCACCGTATTGGTTGTATCTC 0.527000 18 118 0 0 1 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 4 40 0 0 1 0 0 CD63 0 broad.mit.edu 37 12 56120995 56120995 + Silent SNP G G A TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr12:56120995G>A ENST00000549117.1 - 3 631 c.195C>T c.(193-195)ttC>ttT p.F65F CD63_ENST00000420846.3_Silent_p.F65F|CD63_ENST00000257857.4_Silent_p.F65F|CD63_ENST00000550776.1_5'UTR|CD63_ENST00000546939.1_5'UTR|CD63_ENST00000552692.1_Silent_p.F65F|CD63_ENST00000552754.1_Silent_p.F42F NM_001257389.1 NP_001244318.1 P08962 CD63_HUMAN CD63 molecule 65 platelet activation|platelet degranulation integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane kidney(1)|large_intestine(3)|lung(2)|ovary(1) 7 AAGCCACCAGGAAGAGGAAGA 0.592000 7 43 0 0 1 0 0 TSGA10 80705 broad.mit.edu 37 2 99681428 99681428 + Missense_Mutation SNP C C A TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr2:99681428C>A ENST00000393483.3 - 16 2222 c.1378G>T c.(1378-1380)Gat>Tat p.D460Y TSGA10_ENST00000539964.1_Missense_Mutation_p.D460Y|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000355053.4_Missense_Mutation_p.D460Y|TSGA10_ENST00000410001.1_Missense_Mutation_p.D460Y NM_025244.2 NP_079520.1 Q9BZW7 TSG10_HUMAN testis specific, 10 460 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 TTGAGGGAATCTACTTTTTCT 0.373000 7 52 0.00448238 0.00461045 1 1 0 SPANXD 64648 broad.mit.edu 37 X 140785702 140785702 + Missense_Mutation SNP C C T TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chrX:140785702C>T ENST00000370515.3 - 2 547 c.214G>A c.(214-216)Gcc>Acc p.A72T NM_032417.2|NM_145665.1 NP_115793.1|NP_663698.1 SPANX family, member D breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Acute lymphoblastic leukemia(192;7.65e-05) TTCTTTCGGGCGTGGTCATTC 0.433000 5 160 0 0 1 0 0 MYSM1 114803 broad.mit.edu 37 1 59126842 59126842 + Splice_Site SNP T T G TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr1:59126842T>G ENST00000472487.1 - 19 2367 c.2328_splice c.e19+1 p.K776_splice MYSM1_ENST00000493821.1_5'UTR NM_001085487.2 NP_001078956.1 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 776 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(7;9.36e-06) GACAGCTTACTTTCTGCAAAC 0.378000 5 27 0 0 1 0 0 CDC42EP3 10602 broad.mit.edu 37 2 37873410 37873410 + Missense_Mutation SNP G G C TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr2:37873410G>C ENST00000295324.3 - 2 1321 c.321C>G c.(319-321)atC>atG p.I107M AC006369.2_ENST00000419425.1_RNA NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.3 NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2 Q9UKI2 BORG2_HUMAN CDC42 effector protein (Rho GTPase binding) 3 107 regulation of cell shape|signal transduction actin cytoskeleton|cytoplasm|endomembrane system|membrane cytoskeletal regulatory protein binding endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 11 all_hematologic(82;0.172) TCGGGAGGGAGATGGCATTTT 0.547000 6 53 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228486309 228486309 + Silent SNP G G A TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr1:228486309G>A ENST00000570156.2 + 49 13175 c.13101G>A c.(13099-13101)caG>caA p.Q4367Q RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Silent_p.Q1057Q|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3410 Ig-like 45. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCCTGAAGCAGGATGGGACGA 0.582000 5 58 0 0 1 0 0 PCDHA7 0 broad.mit.edu 37 5 140215957 140215957 + Silent SNP C C T TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr5:140215957C>T ENST00000525929.1 + 1 1989 c.1989C>T c.(1987-1989)gcC>gcT p.A663A PCDHA7_ENST00000378125.3_Silent_p.A663A|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGCCACAGCCACCGTGCTGG 0.652000 9 49 0 0 1 0 0 TNNI2 7136 broad.mit.edu 37 11 1860932 1860932 + Silent SNP A A G TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr11:1860932A>G ENST00000381906.1 + 2 75 c.6A>G c.(4-6)ggA>ggG p.G2G TNNI2_ENST00000252898.7_Silent_p.G2G|TNNI2_ENST00000381911.1_Silent_p.G2G NM_001145829.1 NP_001139301.1 P48788 TNNI2_HUMAN troponin I type 2 (skeletal, fast) 2 Involved in binding TNC. muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction cytosol|nucleus|troponin complex actin binding|troponin T binding lung(8)|prostate(1)|urinary_tract(1) 10 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) TCAGGATGGGAGAGTAAGTGG 0.632000 3 21 0 0 1 0 0 NME1 4830 broad.mit.edu 37 17 49239114 49239114 + Missense_Mutation SNP G G A TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr17:49239114G>A ENST00000336097.3 + 6 678 c.442G>A c.(442-444)Gtg>Atg p.V148M NME2_ENST00000376392.6_Intron|NME1_ENST00000393196.3_Missense_Mutation_p.V123M|NME1_ENST00000511355.1_3'UTR|NME2_ENST00000555572.1_Intron|NME1_ENST00000013034.3_Missense_Mutation_p.V148M|NME2_ENST00000393193.2_Intron NM_198175.1 NP_937818.1 NME/NM23 nucleoside diphosphate kinase 1 endometrium(1)|large_intestine(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) CAGTGATTCTGTGGAGAGTGC 0.478000 9 26 0 0 1 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303216 151303216 + Missense_Mutation SNP G G A rs149591320 byFrequency TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chrX:151303216G>A ENST00000370323.4 - 4 1193 c.877C>T c.(877-879)Cgg>Tgg p.R293W MAGEA10_ENST00000244096.3_Missense_Mutation_p.R293W|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 293 MAGE. p.R293R(1) endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) AACTCATACCGTGCAGGATCA 0.517000 13 45 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7240690 7240690 + Nonsense_Mutation SNP T T A TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr6:7240690T>A ENST00000379938.2 + 11 4365 c.3828T>A c.(3826-3828)tgT>tgA p.C1276* RREB1_ENST00000349384.6_Intron|RREB1_ENST00000379933.3_Intron|RREB1_ENST00000334984.6_Nonsense_Mutation_p.C1276* NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 1272 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CCTTCCCTTGTCAAAAATGCG 0.413000 16 77 0 0 1 0 0 TTI1 9675 broad.mit.edu 37 20 36640365 36640365 + Silent SNP G G A TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr20:36640365G>A ENST00000373448.2 - 3 2092 c.1854C>T c.(1852-1854)tgC>tgT p.C618C TTI1_ENST00000449821.1_Silent_p.C618C|TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000373447.3_Silent_p.C618C NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 618 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 TGTTCATGGAGCAAATAGTGG 0.458000 4 96 0 0 1 0 0 CHRM2 1129 broad.mit.edu 37 7 136700393 136700393 + Missense_Mutation SNP C C G TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr7:136700393C>G ENST00000445907.2 + 3 1309 c.781C>G c.(781-783)Cag>Gag p.Q261E AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.Q261E|CHRM2_ENST00000397608.3_Missense_Mutation_p.Q261E|CHRM2_ENST00000320658.5_Missense_Mutation_p.Q261E|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.Q261E|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.Q261E NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 261 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CAACAAAATCCAGAATGGCAA 0.517000 3 20 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 30 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr6:29910607G>C ENST00000396634.1 + 4 488 c.147G>C c.(145-147)gtG>gtC p.V49V HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 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.V49V(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 TCATCGCCGTGGGCTACGTGG 0.692000 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) 4 23 0 0 1 0 0 SEPT11 55752 broad.mit.edu 37 4 77941726 77941726 + Nonsense_Mutation SNP C C T TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr4:77941726C>T ENST00000264893.6 + 7 1057 c.856C>T c.(856-858)Cga>Tga p.R286* SEPT11_ENST00000502584.1_Nonsense_Mutation_p.R286*|SEPT11_ENST00000505788.1_Nonsense_Mutation_p.R286*|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000510515.1_Nonsense_Mutation_p.R296*|SEPT11_ENST00000541121.1_Nonsense_Mutation_p.R296* NM_018243.2 NP_060713.1 Q9NVA2 SEP11_HUMAN septin 11 286 cell cycle|cell division|protein heterooligomerization axon|cell junction|dendritic spine|septin complex|stress fiber|synapse GTP binding|protein binding endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1) 11 GGAGGACTTGCGAGAGCAGAC 0.493000 4 15 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8156424 8156424 + Missense_Mutation SNP T T C TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr19:8156424T>C ENST00000600128.1 - 48 6370 c.5956A>G c.(5956-5958)Acc>Gcc p.T1986A FBN3_ENST00000601739.1_Missense_Mutation_p.T1986A|FBN3_ENST00000270509.2_Missense_Mutation_p.T1986A Q75N90 FBN3_HUMAN fibrillin 3 1986 EGF-like 32; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GGGCTGTTGGTACAGGTGCCA 0.587000 3 39 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223178296 223178296 + Missense_Mutation SNP A A T TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr1:223178296A>T ENST00000284476.6 + 8 3721 c.3557A>T c.(3556-3558)gAa>gTa p.E1186V NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 1186 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) CCAAAATCTGAACTGGAGCAT 0.458000 5 59 0 0 1 0 0 MICALL2 79778 broad.mit.edu 37 7 1477839 1477839 + Silent SNP G G A TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr7:1477839G>A ENST00000297508.7 - 12 2380 c.2205C>T c.(2203-2205)ctC>ctT p.L735L MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Silent_p.L523L NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 735 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) CCTCCGGGGAGAGGTAGTCGG 0.711000 3 6 0 0 1 0 0 GZF1 64412 broad.mit.edu 37 20 23347711 23347711 + Missense_Mutation SNP T T A TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr20:23347711T>A ENST00000338121.5 + 3 1513 c.1436T>A c.(1435-1437)aTt>aAt p.I479N GZF1_ENST00000544236.1_Missense_Mutation_p.I3N|GZF1_ENST00000461789.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.I479N|GZF1_ENST00000542987.1_Intron Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 479 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) CACATGCTGATTTATCATAAA 0.353000 4 33 0 0 1 0 0 CIRH1A 84916 broad.mit.edu 37 16 69194305 69194305 + Silent SNP T T C TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr16:69194305T>C ENST00000563094.1 + 13 1525 c.1491T>C c.(1489-1491)aaT>aaC p.N497N CIRH1A_ENST00000352319.4_Silent_p.N382N|CIRH1A_ENST00000314423.7_Silent_p.N497N Q969X6 CIR1A_HUMAN cirrhosis, autosomal recessive 1A (cirhin) 497 nucleolus protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(108;0.125) CAGATGGGAATTGGCTAGCTG 0.473000 12 77 0 0 1 0 0 ZNF512 84450 broad.mit.edu 37 2 27838080 27838080 + Missense_Mutation SNP C C G TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr2:27838080C>G ENST00000355467.4 + 11 1260 c.1177C>G c.(1177-1179)Cta>Gta p.L393V ZNF512_ENST00000416005.2_Missense_Mutation_p.L364V|ZNF512_ENST00000413371.2_Missense_Mutation_p.L316V|ZNF512_ENST00000556601.1_Missense_Mutation_p.L262V|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Missense_Mutation_p.L392V Q96ME7 ZN512_HUMAN zinc finger protein 512 393 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155) CCAGGAAGTACTACATAAATG 0.358000 3 62 0 0 1 0 0 FNTA 2339 broad.mit.edu 37 8 42932435 42932435 + Nonsense_Mutation SNP G G A TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr8:42932435G>A ENST00000529687.1 + 6 1145 c.257G>A c.(256-258)tGg>tAg p.W86* RP11-598P20.5_ENST00000534420.1_Nonsense_Mutation_p.194_194ins*|FNTA_ENST00000302279.3_Nonsense_Mutation_p.W237*|FNTA_ENST00000342116.4_Nonsense_Mutation_p.W170* P49354 FNTA_HUMAN farnesyltransferase, CAAX box, alpha 237 cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway cytosol|microtubule associated complex alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 16 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) AACTCTGTCTGGAACCAAAGA 0.378000 3 50 0 0 1 0 0 RBM12 10137 broad.mit.edu 37 20 34242229 34242229 + Missense_Mutation SNP A A G TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr20:34242229A>G ENST00000374114.3 - 3 1279 c.1016T>C c.(1015-1017)gTa>gCa p.V339A RBM12_ENST00000374104.3_Missense_Mutation_p.V339A|RBM12_ENST00000359646.1_Missense_Mutation_p.V339A|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000352393.4_Intron NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 339 RRM 1. nucleus nucleotide binding|protein binding|RNA binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) ATTTCGACCTACATGATCTTT 0.403000 4 83 0 0 1 0 0 KBTBD4 55709 broad.mit.edu 37 11 47599133 47599133 + Missense_Mutation SNP C C T TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr11:47599133C>T ENST00000533290.1 - 1 1208 c.494G>A c.(493-495)cGc>cAc p.R165H KBTBD4_ENST00000526005.1_Missense_Mutation_p.R140H|KBTBD4_ENST00000430070.2_Missense_Mutation_p.R156H|KBTBD4_ENST00000525720.1_Missense_Mutation_p.R189H|KBTBD4_ENST00000395288.2_Missense_Mutation_p.R140H|NDUFS3_ENST00000533507.1_Intron Q9NVX7 KBTB4_HUMAN kelch repeat and BTB (POZ) domain containing 4 140 BACK. p.R140H(2) NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 24 TTGCACTGTGCGGGCCAAAAA 0.517000 4 111 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235933474 235933482 + In_Frame_Del DEL AAGTCAGTA AAGTCAGTA - TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr1:235933474_235933482delAAGTCAGTA ENST00000389794.3 - 20 6074_6082 c.5900_5908delTACTGACTT c.(5899-5910)cgt>c p.LLTC1967del LYST_ENST00000389793.2_In_Frame_Del_p.LLTC1967del|LYST_ENST00000536965.1_3'UTR Q99698 LYST_HUMAN lysosomal trafficking regulator 1967 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding p.L1968L(1) NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AAAACCTGACAAGTCAGTAGAAAGTGATG 0.354 7 108 --- --- --- --- RP11-93K22.13 0 broad.mit.edu 37 3 129811873 129811875 + RNA DEL AAA AAA - rs71158104 TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr3:129811873_129811875delAAA ENST00000514010.1 - 0 157 ALG1L2_ENST00000507643.1_RNA agtctgtcagaaaaaaaaaaaaa 0.384 3 5 --- --- --- --- CAPN11 11131 broad.mit.edu 37 6 44151656 44151656 + Frame_Shift_Del DEL C C - TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr6:44151656delC ENST00000542245.1 + 23 2245 c.2207delC c.(2206-2208)acfs p.T736fs CAPN11_ENST00000398776.1_Frame_Shift_Del_p.T736fs Q9UMQ6 CAN11_HUMAN calpain 11 736 Domain IV. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 36 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CTGCAGATGACCATGTGGGGA 0.637 2 4 --- --- --- --- SP8 221833 broad.mit.edu 37 7 20824941 20824943 + In_Frame_Del DEL GCC GCC - TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr7:20824941_20824943delGCC ENST00000361443.4 - 3 676_678 c.439_441delGGC c.(439-441)del p.G147del SP8_ENST00000418710.2_In_Frame_Del_p.G165del NM_198956.2 NP_945194.1 Q8IXZ3 SP8_HUMAN Sp8 transcription factor 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G165delG(1)|p.G147delG(1) NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 8 GCGCGGAGGAgccgccgccgccg 0.729 3 3 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23299147 23299147 + RNA DEL A A - TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr15:23299147delA ENST00000560464.1 - 0 4510 ACATTCAAAGAAAAAAAAAAA 0.313 2 4 --- --- --- --- ACTR5 79913 broad.mit.edu 37 20 37400246 37400246 + Frame_Shift_Del DEL T T - TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chr20:37400246delT ENST00000243903.4 + 9 1648 c.1611delT c.(1609-1611)gcfs p.A537fs NM_024855.3 NP_079131.3 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog (yeast) 537 DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2) 12 Myeloproliferative disorder(115;0.00878) GGTACGGTGCTCGTGACTGGG 0.507 10 90 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44918544 44918545 + Frame_Shift_Ins INS - - G TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6df7e9e-c584-4526-afb2-fa4b5199b174 814a1d39-a0af-491b-bb21-8afa1dd84729 g.chrX:44918544_44918545insG ENST00000377967.4 + 12 1068_1069 c.1027_1028insG c.(1027-1029)tgcfs p.C343fs KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.C343fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.C343fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.C343fs NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 343 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.0(2) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 GGCCTATATTTGTGCTGTACAA 0.436 """D, N, F, S""" """renal, oesophageal SCC, MM""" 8 16 --- --- --- ---