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 POFUT2 23275 broad.mit.edu 37 21 46689817 46689817 + Missense_Mutation SNP G G A TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr21:46689817G>A ENST00000331343.7 - 7 975 c.949C>T c.(949-951)Cgc>Tgc p.R317C POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000349485.5_Missense_Mutation_p.R317C NM_015227.4 NP_056042.1 Q9Y2G5 OFUT2_HUMAN protein O-fucosyltransferase 2 317 fucose metabolic process endoplasmic reticulum peptide-O-fucosyltransferase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(79;0.243) ATGAGGCTGCGGATCTTCCTC 0.542000 9 55 0 0 1 0 0 PCDH12 51294 broad.mit.edu 37 5 141329142 141329142 + Silent SNP T T C TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr5:141329142T>C ENST00000231484.3 - 3 4195 c.2985A>G c.(2983-2985)gcA>gcG p.A995A NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 995 neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCTGGGATTGCACTCCTGC 0.493000 16 77 0 0 1 0 0 SH2D3A 10045 broad.mit.edu 37 19 6754188 6754188 + Missense_Mutation SNP T T C rs2305807 by1000genomes TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr19:6754188T>C ENST00000437152.3 - 6 1112 c.980A>G c.(979-981)gAt>gGt p.D327G SH2D3A_ENST00000245908.6_Intron Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 425 JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1) 24 GGAGAAGAGATCTGAGCACGC 0.657000 3 18 0 0 1 0 0 TERT 0 broad.mit.edu 37 5 1280291 1280291 + Silent SNP C C T rs148582238 TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr5:1280291C>T ENST00000310581.5 - 4 1989 c.1932G>A c.(1930-1932)acG>acA p.T644T TERT_ENST00000296820.5_Silent_p.T644T|TERT_ENST00000508104.2_Silent_p.T644T|TERT_ENST00000334602.6_Silent_p.T644T NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 644 Reverse transcriptase. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CTCTGCGGAACGTTCTGGCTC 0.552000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 6 99 0 0 1 0 0 ADAM21 8747 broad.mit.edu 37 14 70924812 70924812 + Missense_Mutation SNP C C T TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr14:70924812C>T ENST00000603540.1 + 2 854 c.596C>T c.(595-597)tCt>tTt p.S199F ADAM21_ENST00000267499.3_Missense_Mutation_p.S199F|RP11-486O13.4_ENST00000556646.1_lincRNA NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 199 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GAACCAAAATCTGCTGGTGAC 0.448000 5 88 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55946325 55946325 + Missense_Mutation SNP A A G TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr4:55946325A>G ENST00000263923.4 - 30 4149 c.3854T>C c.(3853-3855)aTg>aCg p.M1285T RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1285 angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GCTGGGCACCATTCCACTGCA 0.507000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 8 37 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155504495 155504495 + Silent SNP G G C rs145603552 byFrequency TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr6:155504495G>C ENST00000461783.3 + 16 4198 c.2925G>C c.(2923-2925)ccG>ccC p.P975P TIAM2_ENST00000456877.2_Silent_p.P287P|TIAM2_ENST00000318981.5_Silent_p.P975P|TIAM2_ENST00000456144.1_Silent_p.P975P|TIAM2_ENST00000529824.2_Silent_p.P975P|TIAM2_ENST00000528391.2_Silent_p.P311P|TIAM2_ENST00000367174.2_Silent_p.P351P|TIAM2_ENST00000360366.4_Silent_p.P999P Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 975 PDZ. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CCCGGCCTCCGGACACAAAAG 0.547000 4 53 0 0 1 0 0 RP11-204M4.2 0 broad.mit.edu 37 9 41962602 41962602 + RNA SNP G G T TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr9:41962602G>T ENST00000454645.1 - 0 902 NR_003670.1 TTCTTTCTTTGTTTTTTTTCC 0.373000 4 37 1 1 1 1 0 RP11-69H14.6 0 broad.mit.edu 37 15 22332432 22332432 + RNA SNP C C T TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr15:22332432C>T ENST00000558896.1 + 0 239 AAGATTCTAACGTGACAGAAC 0.343000 10 43 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 7 50 0 0 1 0 0 SYN2 6854 broad.mit.edu 37 3 12183431 12183431 + RNA SNP G G A TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr3:12183431G>A ENST00000432424.2 + 0 634 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 TCAACCTGGTGGCCCATGCAG 0.478000 7 38 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713944 142713944 + RNA SNP C C T TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr1:142713944C>T ENST00000369381.2 - 0 661 TGATTACCTCCGAAGTTAAAG 0.308000 3 22 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 7 49 0 0 1 0 0 OR8K5 219453 broad.mit.edu 37 11 55927697 55927697 + Missense_Mutation SNP C C T TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr11:55927697C>T ENST00000313447.1 - 1 96 c.97G>A c.(97-99)Gtc>Atc p.V33I NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) AGGTAGATGACGAGGAAGACT 0.433000 19 72 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61761114 61761114 + Missense_Mutation SNP G G T TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr16:61761114G>T ENST00000577390.1 - 9 2374 c.1420C>A c.(1420-1422)Cac>Aac p.H474N CDH8_ENST00000299345.6_Missense_Mutation_p.H474N|CDH8_ENST00000584337.1_Missense_Mutation_p.H474N|CDH8_ENST00000577730.1_Missense_Mutation_p.H474N NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 474 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) ATCTGACTGTGGTTCCCTATG 0.398000 14 117 6.31663e-08 6.52718e-08 1 1 0 FBXO3 26273 broad.mit.edu 37 11 33777500 33777500 + Silent SNP C C T TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr11:33777500C>T ENST00000530401.1 - 5 500 c.480G>A c.(478-480)ctG>ctA p.L160L FBXO3_ENST00000534136.1_Silent_p.L165L|FBXO3_ENST00000526785.1_Silent_p.L52L|FBXO3_ENST00000448981.2_Silent_p.L165L|FBXO3_ENST00000265651.3_Silent_p.L165L Q9UK99 FBX3_HUMAN F-box protein 3 165 proteolysis nucleus ubiquitin-protein ligase activity NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1) 13 Lung NSC(402;0.0804) BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008) AGTGATTAGACAGTGCCATGC 0.428000 3 24 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 4 54 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71909724 71909724 + Missense_Mutation SNP C C T TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr2:71909724C>T ENST00000258104.3 + 54 6398 c.6121C>T c.(6121-6123)Cgg>Tgg p.R2041W DYSF_ENST00000413539.2_Missense_Mutation_p.R2072W|DYSF_ENST00000409651.1_Missense_Mutation_p.R2073W|DYSF_ENST00000409582.3_Missense_Mutation_p.R2079W|DYSF_ENST00000429174.2_Missense_Mutation_p.R2062W|DYSF_ENST00000410041.1_Missense_Mutation_p.R2059W|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.R2063W|DYSF_ENST00000410020.3_Missense_Mutation_p.R2080W|DYSF_ENST00000394120.2_Missense_Mutation_p.R2042W|DYSF_ENST00000409762.1_Missense_Mutation_p.R2058W|DYSF_ENST00000409744.1_Missense_Mutation_p.R2049W NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 2041 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CATCCTGTGGCGGCGTTTCCG 0.582000 12 68 0 0 1 0 0 VWA2 340706 broad.mit.edu 37 10 116045953 116045953 + Missense_Mutation SNP G G C rs147199528 TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr10:116045953G>C ENST00000603594.1 + 11 1574 c.1253G>C c.(1252-1254)gGc>gCc p.G418A VWA2_ENST00000392982.3_Missense_Mutation_p.G418A NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 418 VWFA 2. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) TTCCGTGGTGGCCCCACCCTG 0.672000 14 49 0 0 1 0 0 TMSB15A 11013 broad.mit.edu 37 X 101770045 101770045 + Missense_Mutation SNP G G A TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chrX:101770045G>A ENST00000289373.4 - 2 182 c.47C>T c.(46-48)tCa>tTa p.S16L NM_021992.2 NP_068832.1 P0CG34 TB15A_HUMAN thymosin beta 15a 16 actin cytoskeleton organization|sequestering of actin monomers cytoplasm|cytoskeleton actin binding large_intestine(1)|lung(1) 2 CTTCAGTTTTGACCTGTCAAA 0.368000 9 79 0 0 1 0 0 IGKV2D-24 0 broad.mit.edu 37 2 90044429 90044429 + RNA SNP C C T TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr2:90044429C>T ENST00000462693.1 + 0 380 ACGCAAGCTACACAATTTCCT 0.522000 17 90 0 0 1 0 0 CSPG4P5 0 broad.mit.edu 37 15 84957480 84957499 + RNA DEL GGCCCCACATCCATTGAGAA GGCCCCACATCCATTGAGAA - TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA ENST00000558801.1 - 0 7230_7249 TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT 0.586 2 4 --- --- --- ---