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 COL6A1 1291 broad.mit.edu 37 21 47417371 47417371 + Missense_Mutation SNP G G A TCGA-DU-A7TG-01A-21D-A34J-08 TCGA-DU-A7TG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926f2cf8-a060-403b-9fc4-cbe215eadef2 5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1 g.chr21:47417371G>A ENST00000361866.3 + 21 1549 c.1435G>A c.(1435-1437)Ggc>Agc p.G479S NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 479 Triple-helical region. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) AGGCTACCGAGGCGATGAGGG 0.662000 8 42 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62022892 62022892 + Missense_Mutation SNP G G A TCGA-DU-A7TG-01A-21D-A34J-08 TCGA-DU-A7TG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926f2cf8-a060-403b-9fc4-cbe215eadef2 5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1 g.chr17:62022892G>A ENST00000578147.1 - 19 3624 c.3548C>T c.(3547-3549)gCc>gTc p.A1183V SCN4A_ENST00000435607.1_Missense_Mutation_p.A1183V P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1183 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.A1183V(1) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GAACTTGCCGGCAAACAGGTT 0.542000 5 273 0 0 1 0 0 DNHD1 144132 broad.mit.edu 37 11 6519690 6519690 + Missense_Mutation SNP G G A TCGA-DU-A7TG-01A-21D-A34J-08 TCGA-DU-A7TG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926f2cf8-a060-403b-9fc4-cbe215eadef2 5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1 g.chr11:6519690G>A ENST00000254579.6 + 3 809 c.245G>A c.(244-246)cGc>cAc p.R82H DNHD1_ENST00000354685.3_Missense_Mutation_p.R82H|DNHD1_ENST00000477562.1_3'UTR|DNHD1_ENST00000527990.2_Missense_Mutation_p.R82H NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 82 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GCAGCTTGGCGCTATCTTCAT 0.557000 18 105 0 0 1 0 0 TEKT1 83659 broad.mit.edu 37 17 6704170 6704170 + Silent SNP C C T TCGA-DU-A7TG-01A-21D-A34J-08 TCGA-DU-A7TG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926f2cf8-a060-403b-9fc4-cbe215eadef2 5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1 g.chr17:6704170C>T ENST00000338694.2 - 7 1074 c.945G>A c.(943-945)acG>acA p.T315T TEKT1_ENST00000535086.1_Silent_p.T169T NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 315 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) TCTCCAAGCGCGTATGAGCCA 0.502000 OREG0024124 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 160 0 0 1 0 0 ZNF280D 54816 broad.mit.edu 37 15 56924126 56924126 + Missense_Mutation SNP T T C TCGA-DU-A7TG-01A-21D-A34J-08 TCGA-DU-A7TG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926f2cf8-a060-403b-9fc4-cbe215eadef2 5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1 g.chr15:56924126T>C ENST00000559237.1 - 21 3154 c.2471A>G c.(2470-2472)gAa>gGa p.E824G ZNF280D_ENST00000267807.7_Missense_Mutation_p.E837G NM_001002843.1 NP_001002843.1 Q6N043 Z280D_HUMAN zinc finger protein 280D 837 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 30 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) TTTTTTCTTTTCCACTTTATC 0.353000 40 166 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32632685 32632685 + Missense_Mutation SNP A A G TCGA-DU-A7TG-01A-21D-A34J-08 TCGA-DU-A7TG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926f2cf8-a060-403b-9fc4-cbe215eadef2 5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1 g.chr9:32632685A>G ENST00000242310.4 - 1 2982 c.2893T>C c.(2893-2895)Tgt>Cgt p.C965R NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 965 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCTAGGAGACACTTGCCCTTC 0.468000 26 109 0 0 1 0 0 ELK4 2005 broad.mit.edu 37 1 205585723 205585723 + Missense_Mutation SNP T T C TCGA-DU-A7TG-01A-21D-A34J-08 TCGA-DU-A7TG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926f2cf8-a060-403b-9fc4-cbe215eadef2 5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1 g.chr1:205585723T>C ENST00000357992.4 - 5 1586 c.1247A>G c.(1246-1248)gAt>gGt p.D416G NM_001973.3 NP_001964.2 ELK4, ETS-domain protein (SRF accessory protein 1) SLC45A3/ELK4(18) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 12 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) GGAAGGTCCATCCAGCCCAGA 0.453000 T SLC45A3 prostate 6 56 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161994 90161994 + RNA SNP G G A rs28608881 TCGA-DU-A7TG-01A-21D-A34J-08 TCGA-DU-A7TG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926f2cf8-a060-403b-9fc4-cbe215eadef2 5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1 g.chr16:90161994G>A ENST00000567960.1 + 0 730 TUBB8P7_ENST00000564451.1_RNA TGCGCTTCCCGGGCCAGCTGA 0.592000 4 26 0 0 1 0 0 WDR27 253769 broad.mit.edu 37 6 170070679 170070679 + Missense_Mutation SNP T T A TCGA-DU-A7TG-01A-21D-A34J-08 TCGA-DU-A7TG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926f2cf8-a060-403b-9fc4-cbe215eadef2 5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1 g.chr6:170070679T>A ENST00000333572.6 - 4 961 c.442A>T c.(442-444)Atg>Ttg p.M148L WDR27_ENST00000420344.2_Missense_Mutation_p.M148L|WDR27_ENST00000448612.1_Missense_Mutation_p.M148L|WDR27_ENST00000423258.1_Intron A2RRH5 WDR27_HUMAN WD repeat domain 27 148 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) ATATCCAGCATGAATATTTTG 0.493000 12 52 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23897871 23897871 + Silent SNP G G A TCGA-DU-A7TG-01A-21D-A34J-08 TCGA-DU-A7TG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926f2cf8-a060-403b-9fc4-cbe215eadef2 5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1 g.chr14:23897871G>A ENST00000355349.3 - 15 1578 c.1416C>T c.(1414-1416)agC>agT p.S472S NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 472 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GCTGCTCAAAGCTGTTGAACT 0.577000 4 61 0 0 1 0 0 METTL2A 339175 broad.mit.edu 37 17 60526028 60526028 + Missense_Mutation SNP A A G TCGA-DU-A7TG-01A-21D-A34J-08 TCGA-DU-A7TG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926f2cf8-a060-403b-9fc4-cbe215eadef2 5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1 g.chr17:60526028A>G ENST00000311506.5 + 9 1111 c.1075A>G c.(1075-1077)Aca>Gca p.T359A NM_181725.3 NP_859076.3 Q96IZ6 MTL2A_HUMAN methyltransferase like 2A 359 methyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2) 6 BRCA - Breast invasive adenocarcinoma(2;1.08e-10) AAAGCAACTGACAATGTACCG 0.532000 4 199 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151864270 151864270 + Silent SNP A A G TCGA-DU-A7TG-01A-21D-A34J-08 TCGA-DU-A7TG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926f2cf8-a060-403b-9fc4-cbe215eadef2 5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1 g.chr7:151864270A>G ENST00000355193.2 - 42 9929 c.9711T>C c.(9709-9711)gtT>gtC p.V3237V KMT2C_ENST00000262189.6_Silent_p.V3237V lysine (K)-specific methyltransferase 2C GCTGTTCAGTAACATGCTTGA 0.393000 20 112 0 0 1 0 0 OR5H6 79295 broad.mit.edu 37 3 97983325 97983325 + Missense_Mutation SNP G G T TCGA-DU-A7TG-01A-21D-A34J-08 TCGA-DU-A7TG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926f2cf8-a060-403b-9fc4-cbe215eadef2 5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1 g.chr3:97983325G>T ENST00000383696.2 + 1 238 c.197G>T c.(196-198)tGg>tTg p.W66L RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 GTTCTCATCTGGAAAGACCCT 0.418000 9 304 3.09899e-07 3.09899e-07 1 1 0 DNM1P47 0 broad.mit.edu 37 15 102305092 102305092 + RNA SNP A A G TCGA-DU-A7TG-01A-21D-A34J-08 TCGA-DU-A7TG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926f2cf8-a060-403b-9fc4-cbe215eadef2 5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1 g.chr15:102305092A>G ENST00000561463.1 + 0 13138 CATGAACACCATCAGCACAGC 0.632000 3 23 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102305084 102305084 + RNA SNP T T C TCGA-DU-A7TG-01A-21D-A34J-08 TCGA-DU-A7TG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926f2cf8-a060-403b-9fc4-cbe215eadef2 5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1 g.chr15:102305084T>C ENST00000561463.1 + 0 13130 GACATCAACATGAACACCATC 0.632000 3 22 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713944 142713944 + RNA SNP C C T TCGA-DU-A7TG-01A-21D-A34J-08 TCGA-DU-A7TG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926f2cf8-a060-403b-9fc4-cbe215eadef2 5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1 g.chr1:142713944C>T ENST00000369381.2 - 0 661 TGATTACCTCCGAAGTTAAAG 0.308000 6 39 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95178176 95178176 + Silent SNP A A G TCGA-DU-A7TG-01A-21D-A34J-08 TCGA-DU-A7TG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926f2cf8-a060-403b-9fc4-cbe215eadef2 5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1 g.chr8:95178176A>G ENST00000027335.3 - 10 1219 c.1095T>C c.(1093-1095)caT>caC p.H365H CDH17_ENST00000441892.2_Silent_p.H151H|CDH17_ENST00000450165.2_Silent_p.H365H NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 365 Cadherin 4. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) CATCCCTGTCATGTGCAGTAA 0.408000 8 44 0 0 1 0 0 GPR115 221393 broad.mit.edu 37 6 47682296 47682296 + Missense_Mutation SNP C C T TCGA-DU-A7TG-01A-21D-A34J-08 TCGA-DU-A7TG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926f2cf8-a060-403b-9fc4-cbe215eadef2 5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1 g.chr6:47682296C>T ENST00000283303.2 + 6 1573 c.1315C>T c.(1315-1317)Cgt>Tgt p.R439C GPR115_ENST00000371220.1_Missense_Mutation_p.R496C|GPR115_ENST00000327753.3_Missense_Mutation_p.R439C NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 439 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.R439C(1) NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 ATCATACATGCGTCACGTGTG 0.483000 32 129 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-A7TG-01A-21D-A34J-08 TCGA-DU-A7TG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926f2cf8-a060-403b-9fc4-cbe215eadef2 5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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 9 85 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55659164 55659164 + Frame_Shift_Del DEL C C - TCGA-DU-A7TG-01A-21D-A34J-08 TCGA-DU-A7TG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926f2cf8-a060-403b-9fc4-cbe215eadef2 5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1 g.chr6:55659164delC ENST00000370830.3 - 3 1443 c.745delG c.(745-747)tcfs p.V249fs BMP5_ENST00000446683.2_Frame_Shift_Del_p.V249fs NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 249 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) ATATCAAAGACAAGCCAACCC 0.403 22 128 --- --- --- --- MESP2 145873 broad.mit.edu 37 15 90320121 90320144 + In_Frame_Del DEL AGGGGCAGGGGCAAGGGCAGGGGC AGGGGCAGGGGCAAGGGCAGGGGC - rs56192595 TCGA-DU-A7TG-01A-21D-A34J-08 TCGA-DU-A7TG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 926f2cf8-a060-403b-9fc4-cbe215eadef2 5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1 g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC ENST00000341735.3 + 1 533_556 c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC c.(532-558)gag>g p.EGQGQGQGQ178del MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 178 Notch signaling pathway nucleus DNA binding p.Q198_G205delQGQGQGQG(1) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg 0.777 6 11 --- --- --- ---