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 BBOX1 8424 broad.mit.edu 37 11 27077073 27077073 + Silent SNP A A G TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chr11:27077073A>G ENST00000263182.3 + 3 464 c.96A>G c.(94-96)gtA>gtG p.V32V BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000529202.1_Silent_p.V32V|BBOX1_ENST00000528583.1_Silent_p.V32V|BBOX1_ENST00000525090.1_Silent_p.V32V|RP11-1L12.3_ENST00000526061.1_RNA NM_003986.2 NP_003977.1 O75936 BODG_HUMAN butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 32 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 23 Succinic acid(DB00139)|Vitamin C(DB00126) ACCCAGCTGTATGGTTGAGAG 0.468000 7 43 0 0 1 0 0 SGCZ 137868 broad.mit.edu 37 8 13959903 13959903 + Silent SNP C C T TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chr8:13959903C>T ENST00000382080.1 - 7 1441 c.726G>A c.(724-726)ctG>ctA p.L242L SGCZ_ENST00000421524.2_Silent_p.L195L NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 229 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) CTGTAGATTGCAGATGGAGCT 0.507000 3 47 0 0 1 0 0 FOXK2 3607 broad.mit.edu 37 17 80541951 80541951 + Missense_Mutation SNP C C G TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chr17:80541951C>G ENST00000335255.5 + 6 1340 c.1166C>G c.(1165-1167)aCc>aGc p.T389S NM_004514.3 NP_004505.2 Q01167 FOXK2_HUMAN forkhead box K2 389 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) GGCGCCCAGACCCCTGAGAGC 0.632000 3 29 0 0 1 0 0 CALML6 163688 broad.mit.edu 37 1 1848242 1848242 + Missense_Mutation SNP A A T TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chr1:1848242A>T ENST00000307786.3 + 4 759 c.305A>T c.(304-306)cAt>cTt p.H102L CALML6_ENST00000462293.1_3'UTR NM_138705.2 NP_619650.2 Q8TD86 CALL6_HUMAN calmodulin-like 6 102 EF-hand 2. cytoplasm|nucleus calcium ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2) 7 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) GGAGTTTACCATGAGAAGGCC 0.562000 9 107 0 0 1 0 0 GLUD1P2 0 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 3 21 0 0 1 0 0 DACH2 117154 broad.mit.edu 37 X 85906101 85906101 + Missense_Mutation SNP A A G TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chrX:85906101A>G ENST00000373131.1 + 3 827 c.664A>G c.(664-666)Aac>Gac p.N222D DACH2_ENST00000510272.1_Missense_Mutation_p.N16D|DACH2_ENST00000373125.4_Missense_Mutation_p.N235D|DACH2_ENST00000508860.1_Missense_Mutation_p.N68D NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 235 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 TATGGCTATGAACACTCTTCA 0.408000 9 16 0 0 1 0 0 ZBTB9 221504 broad.mit.edu 37 6 33423522 33423522 + Silent SNP G G A TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chr6:33423522G>A ENST00000395064.2 + 2 913 c.645G>A c.(643-645)gaG>gaA p.E215E NM_152735.3 NP_689948.1 Q96C00 ZBTB9_HUMAN zinc finger and BTB domain containing 9 215 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2) 11 aagaagaagaggaggaggagg 0.552000 3 57 0 0 1 0 0 ACOT9 23597 broad.mit.edu 37 X 23723894 23723894 + Silent SNP G G A TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chrX:23723894G>A ENST00000379303.5 - 12 1052 c.924C>T c.(922-924)tgC>tgT p.C308C ACOT9_ENST00000336430.7_Silent_p.C299C|ACOT9_ENST00000379295.1_Silent_p.C239C NM_001037171.1 NP_001032248.1 Q9Y305 ACOT9_HUMAN acyl-CoA thioesterase 9 299 acyl-CoA metabolic process mitochondrion acetyl-CoA hydrolase activity|carboxylesterase activity breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1) 15 CCTGAGGGTGGCAAATTTCCA 0.373000 5 236 0 0 1 0 0 LST3 0 broad.mit.edu 37 12 21176193 21176193 + Missense_Mutation SNP G G A TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chr12:21176193G>A ENST00000381541.3 + 6 764 c.699G>A c.(697-699)atG>atA p.M233I SLCO1B7_ENST00000554957.1_Missense_Mutation_p.M233I|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.M186I TTGCTAAAATGTATGTGGATA 0.373000 3 18 0 0 1 0 0 AMER1 139285 broad.mit.edu 37 X 63411230 63411230 + Missense_Mutation SNP C C T rs147754688 byFrequency TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chrX:63411230C>T ENST00000330258.3 - 2 2209 c.1937G>A c.(1936-1938)cGg>cAg p.R646Q AMER1_ENST00000403336.1_Missense_Mutation_p.R646Q|AMER1_ENST00000374869.3_Missense_Mutation_p.R646Q NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) CTTCTCCTGCCGGGCCTGGGT 0.612000 13 23 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18845963 18845963 + RNA SNP C C T rs144351257 by1000genomes TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chr22:18845963C>T ENST00000412938.1 + 0 3321 GATCTCATCGCGGACACCACT 0.517000 4 35 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c 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 14 31 0 0 1 0 0 MLLT6 4302 broad.mit.edu 37 17 36871961 36871961 + Missense_Mutation SNP C C T TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chr17:36871961C>T ENST00000325718.7 + 9 1007 c.916C>T c.(916-918)Cat>Tat p.H306Y CTB-58E17.9_ENST00000579499.1_RNA NM_005937.3 NP_005928.2 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 306 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) GTCTTCCAGCCATAGCCTGAG 0.562000 T MLL AL 10 23 0 0 1 0 0 RIN2 54453 broad.mit.edu 37 20 19955639 19955639 + Missense_Mutation SNP C C T TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chr20:19955639C>T ENST00000255006.6 + 8 1266 c.1117C>T c.(1117-1119)Cgg>Tgg p.R373W RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 324 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 CACAAGCCCTCGGCTGGCCAG 0.602000 6 41 0 0 1 0 0 GAB2 9846 broad.mit.edu 37 11 77937662 77937662 + Silent SNP T T G TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chr11:77937662T>G ENST00000361507.4 - 4 1141 c.1056A>C c.(1054-1056)ccA>ccC p.P352P GAB2_ENST00000340149.2_Silent_p.P314P NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 352 osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) GGGGGCGGGGTGGGGGAGCTA 0.582000 6 53 0 0 1 0 0 EHD1 10938 broad.mit.edu 37 11 64622163 64622163 + Missense_Mutation SNP C C T TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chr11:64622163C>T ENST00000320631.3 - 5 1501 c.1247G>A c.(1246-1248)gGc>gAc p.G416D EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Missense_Mutation_p.G416D NM_006795.2 NP_006786.2 Q9H4M9 EHD1_HUMAN EH-domain containing 1 416 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 GTTCATGGTGCCGTCAAAGGC 0.672000 7 171 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142185447 142185447 + Silent SNP C C T TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chr8:142185447C>T ENST00000519811.1 + 14 2494 c.2424C>T c.(2422-2424)tcC>tcT p.S808S DENND3_ENST00000262585.2_Silent_p.S728S|DENND3_ENST00000424248.1_Silent_p.S676S A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 728 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) TGTCCAGCTCCGTCAAGACAA 0.547000 OREG0019025 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 38 0 0 1 0 0 TRIM27 5987 broad.mit.edu 37 6 28887928 28887928 + Missense_Mutation SNP C C T TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chr6:28887928C>T ENST00000377199.3 - 3 964 c.608G>A c.(607-609)cGc>cAc p.R203H TRIM27_ENST00000498117.1_5'UTR|TRIM27_ENST00000377194.3_Missense_Mutation_p.R203H NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 203 cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 CTCCTCAAGGCGGGCCAGGAG 0.517000 T RET papillary thyroid 18 115 0 0 1 0 0 MLTK 0 broad.mit.edu 37 2 174131122 174131122 + Missense_Mutation SNP C C T TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chr2:174131122C>T ENST00000375213.3 + 20 2125 c.2047C>T c.(2047-2049)Cgt>Tgt p.R683C MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.R683C|MLK7-AS1_ENST00000422703.1_RNA NM_016653.2 NP_057737.2 CAAATATGGACGTGGTAGTAT 0.458000 23 41 0 0 1 0 0 SLK 9748 broad.mit.edu 37 10 105762041 105762041 + Missense_Mutation SNP C C T rs140715399 TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chr10:105762041C>T ENST00000369755.3 + 9 1650 c.1105C>T c.(1105-1107)Cgt>Tgt p.R369C SLK_ENST00000335753.4_Missense_Mutation_p.R369C NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 369 Glu-rich. apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) AAAAACAGAACGTAGTAACTC 0.368000 14 134 0 0 1 0 0 TRMT2A 27037 broad.mit.edu 37 22 20104015 20104015 + Missense_Mutation SNP C C A TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chr22:20104015C>A ENST00000252136.7 - 2 533 c.145G>T c.(145-147)Gcg>Tcg p.A49S RANBP1_ENST00000430524.1_Intron|TRMT2A_ENST00000403707.3_Missense_Mutation_p.A49S|TRMT2A_ENST00000439169.2_Missense_Mutation_p.A49S|TRMT2A_ENST00000404751.3_Missense_Mutation_p.A49S NM_001257994.1|NM_022727.5|NM_182984.4 NP_001244923.1|NP_073564.3|NP_892029.2 Q8IZ69 TRM2A_HUMAN tRNA methyltransferase 2 homolog A (S. cerevisiae) 49 RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(2)|endometrium(2)|lung(5) 9 CCTGTAGCCGCCCCAGCGCCC 0.647000 3 44 0.115264 0.115264 1 1 0 SLC30A8 169026 broad.mit.edu 37 8 118183316 118183316 + Silent SNP T T A TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chr8:118183316T>A ENST00000427715.2 + 10 1160 c.726T>A c.(724-726)atT>atA p.I242I SLC30A8_ENST00000519688.1_Silent_p.I242I|SLC30A8_ENST00000456015.2_Silent_p.I291I|SLC30A8_ENST00000521243.1_Silent_p.I242I NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 291 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) AAGAGCTTATTTTAGCAGTCG 0.453000 9 92 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53576145 53576145 + Missense_Mutation SNP G G T TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chrX:53576145G>T ENST00000342160.3 - 66 10267 c.9810C>A c.(9808-9810)gaC>gaA p.D3270E HUWE1_ENST00000262854.6_Missense_Mutation_p.D3270E Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 3270 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TGTGTAGCAGGTCCAGGGGAC 0.493000 29 138 3.65163e-15 4.01679e-15 1 1 0 SHANK2 22941 broad.mit.edu 37 11 70507799 70507799 + Missense_Mutation SNP C C T TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chr11:70507799C>T ENST00000449833.2 - 1 124 c.74G>A c.(73-75)cGg>cAg p.R25Q SHANK2_ENST00000449116.2_Missense_Mutation_p.R25Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.R24Q|SHANK2_ENST00000409530.1_Missense_Mutation_p.R24Q|SHANK2_ENST00000357171.3_Missense_Mutation_p.R25Q|SHANK2_ENST00000338508.4_Intron|SHANK2_ENST00000423696.2_Intron NM_133266.3 NP_573573.2 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 0 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GAGAGAATTCCGGGGACAGCG 0.542000 4 177 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26428451 26428451 + RNA DEL A A - rs139821417 TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chr6:26428451delA ENST00000466808.2 + 0 1304 gtgtctaattaaaaaaaaaaa 0.448 2 4 --- --- --- --- RP11-981G7.2 0 broad.mit.edu 37 8 10335889 10335903 + RNA DEL GGCTGCAGTGGTTGT GGCTGCAGTGGTTGT - rs55641852 TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chr8:10335889_10335903delGGCTGCAGTGGTTGT ENST00000517732.1 + 0 223 RP11-981G7.3_ENST00000520494.1_lincRNA GTGGTTGTCAGGCTGCAGTGGTTGTGGCTGCAGTG 0.586 4 6 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58066608 58066608 + RNA DEL T T - TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chr17:58066608delT ENST00000586209.1 + 0 158 TTGATTGTGATTTTTTTTTTT 0.313 2 4 --- --- --- --- AC008103.5 0 broad.mit.edu 37 22 18842473 18842473 + RNA DEL G G - rs66618606 TCGA-P5-A781-01A-11D-A32B-08 TCGA-P5-A781-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31b4159e-4e59-46bc-a18f-5f2790e533bf b6938bbf-14a5-4137-952c-1874ee5e3c1c g.chr22:18842473delG ENST00000412938.1 + 0 2208 AGCTGCTGGTGGGGAGGTCTT 0.647 4 4 --- --- --- ---