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 SLC35F3 148641 broad.mit.edu 37 1 234444947 234444947 + Missense_Mutation SNP T T G TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr1:234444947T>G ENST00000366618.3 + 4 854 c.709T>G c.(709-711)Tac>Gac p.Y237D SLC35F3_ENST00000366617.3_Missense_Mutation_p.Y168D NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 168 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) AAACTACCTGTACTTACATGC 0.423 8 118 --- --- --- --- ACY1 95 broad.mit.edu 37 3 52012035 52012035 + Missense_Mutation SNP G G T TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr3:52012035G>T ENST00000458031.2 + 2 304 c.73G>T c.(73-75)Gtc>Ttc p.V25F ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.G73V|ABHD14B_ENST00000483233.1_Intron|ABHD14A_ENST00000491470.1_Missense_Mutation_p.G73V|ABHD14A_ENST00000273596.3_Missense_Mutation_p.G73V Q03154 ACY1_HUMAN aminoacylase 1 0 cellular amino acid metabolic process|proteolysis cytosol aminoacylase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) L-Aspartic Acid(DB00128) GTCCTGGCTGGTCTCACCCCT 0.612 11 38 --- --- --- --- FAM86EP 348926 broad.mit.edu 37 4 3948505 3948505 + RNA SNP G G A TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr4:3948505G>A ENST00000281228.8 - 0 880 FAM86EP_ENST00000313946.8_RNA CTAGCTCAGTGGTGAACAGCT 0.657 9 69 --- --- --- --- ZBTB12 221527 broad.mit.edu 37 6 31868519 31868519 + Silent SNP T T C TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr6:31868519T>C ENST00000375527.2 - 2 739 c.564A>G c.(562-564)gaA>gaG p.E188E C2_ENST00000469372.1_Intron NM_181842.2 NP_862825.1 Q9Y330 ZBT12_HUMAN zinc finger and BTB domain containing 12 188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1) 10 GCTCCAAGTCTTCATCCAGTG 0.622 3 46 --- --- --- --- COX7A2 1347 broad.mit.edu 37 6 75950898 75950898 + Silent SNP C C T TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr6:75950898C>T ENST00000370081.2 - 3 508 c.198G>A c.(196-198)ctG>ctA p.L66L COX7A2_ENST00000472311.2_Silent_p.L34L|COX7A2_ENST00000370089.2_Silent_p.L66L|COX7A2_ENST00000460985.1_Intron|COX7A2_ENST00000509698.1_Silent_p.L34L|COX7A2_ENST00000230459.4_Silent_p.L34L P14406 CX7A2_HUMAN cytochrome c oxidase subunit VIIa polypeptide 2 (liver) 34 mitochondrial respiratory chain cytochrome-c oxidase activity|electron carrier activity kidney(2)|lung(1) 3 GTACCTGGAACAGTTTTTGCT 0.348 15 130 --- --- --- --- TBX18 9096 broad.mit.edu 37 6 85446895 85446895 + Silent SNP C C T TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr6:85446895C>T ENST00000369663.5 - 8 1669 c.1332G>A c.(1330-1332)caG>caA p.Q444Q TBX18_ENST00000606784.1_Intron NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 444 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) TCTCACCAGCCTGGTTGGTGA 0.607 12 60 --- --- --- --- DGKI 9162 broad.mit.edu 37 7 137237167 137237167 + Missense_Mutation SNP C C T TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr7:137237167C>T ENST00000453654.2 - 20 1734 c.1195G>A c.(1195-1197)Gcc>Acc p.A399T DGKI_ENST00000424189.2_Missense_Mutation_p.A699T|DGKI_ENST00000446122.1_Missense_Mutation_p.A699T|DGKI_ENST00000288490.5_Missense_Mutation_p.A699T O75912 DGKI_HUMAN diacylglycerol kinase, iota DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 ACCATGTTGGCCTGATTCCTC 0.493 26 93 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151873585 151873585 + Nonsense_Mutation SNP G G A TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr7:151873585G>A ENST00000355193.2 - 38 9171 c.8953C>T c.(8953-8955)Cag>Tag p.Q2985* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q2985* lysine (K)-specific methyltransferase 2C TGCACACCCTGAGAAAAAACA 0.473 7 44 --- --- --- --- TRPA1 8989 broad.mit.edu 37 8 72936047 72936047 + Splice_Site SNP A A G TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr8:72936047A>G ENST00000262209.4 - 26 3357 c.e26+1 RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) AAAAATACATACCGGTATTTC 0.244 11 51 --- --- --- --- APBA1 320 broad.mit.edu 37 9 72131101 72131101 + Silent SNP C C T TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr9:72131101C>T ENST00000265381.4 - 2 1248 c.1026G>A c.(1024-1026)aaG>aaA p.K342K NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 342 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 TGGCATCGCGCTTCTCCTTGC 0.711 14 56 --- --- --- --- PFKM 5213 broad.mit.edu 37 12 48539011 48539011 + Missense_Mutation SNP C C T TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr12:48539011C>T ENST00000340802.6 + 24 2548 c.2324C>T c.(2323-2325)aCt>aTt p.T775I PFKM_ENST00000395233.2_Missense_Mutation_p.T673I|PFKM_ENST00000551804.1_Missense_Mutation_p.T673I|PFKM_ENST00000359794.5_Missense_Mutation_p.T704I|PFKM_ENST00000312352.7_Missense_Mutation_p.T704I|PFKM_ENST00000547587.1_Missense_Mutation_p.T704I NM_001166686.1 NP_001160158.1 P08237 K6PF_HUMAN phosphofructokinase, muscle 704 fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 TTTGCCAATACTCCAGATTCG 0.542 14 79 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93524122 93524122 + Missense_Mutation SNP G G C TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr15:93524122G>C ENST00000394196.4 + 23 4022 c.2954G>C c.(2953-2955)gGg>gCg p.G985A CHD2_ENST00000557381.1_Missense_Mutation_p.G985A NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 985 Glu-rich. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) GAACTGGAAGGGGAGGAATCA 0.363 5 49 --- --- --- --- DLG4 1742 broad.mit.edu 37 17 7100327 7100327 + Missense_Mutation SNP G G T TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr17:7100327G>T ENST00000399510.2 - 11 1813 c.961C>A c.(961-963)Ctg>Atg p.L321M DLG4_ENST00000399506.2_Missense_Mutation_p.L278M|DLG4_ENST00000302955.6_Missense_Mutation_p.L275M NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 278 PDZ 3. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 TCGGTGCCCAGGTAGCTGCTG 0.607 3 19 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578443 7578443 + Missense_Mutation SNP A A G TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr17:7578443A>G ENST00000420246.2 - 5 619 c.487T>C c.(487-489)Tac>Cac p.Y163H TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000445888.2_Missense_Mutation_p.Y163H|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H|TP53_ENST00000269305.4_Missense_Mutation_p.Y163H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 163 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(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) GACTGCTTGTAGATGGCCATG 0.622 111 """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) 5 54 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11047546 11047546 + RNA SNP C C A TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr21:11047546C>A ENST00000470054.1 - 0 708 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTATGATACCCTTTGTCACAC 0.338 5 475 --- --- --- --- EIF3L 51386 broad.mit.edu 37 22 38254723 38254723 + Nonsense_Mutation SNP C C G TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr22:38254723C>G ENST00000412331.2 + 5 993 c.411C>G c.(409-411)taC>taG p.Y137* EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000406934.1_Nonsense_Mutation_p.Y39*|EIF3L_ENST00000381683.6_Nonsense_Mutation_p.Y137* NM_016091.3 NP_057175.1 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3, subunit L 137 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 AATTATACTACAGGCACATAT 0.368 35 167 --- --- --- ---