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 KCNH5 27133 broad.mit.edu 37 14 63511901 63511901 + Missense_Mutation SNP G G A TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chr14:63511901G>A ENST00000322893.7 - 1 272 c.4C>T c.(4-6)Ccg>Tcg p.P2S KCNH5_ENST00000394964.2_Intron|KCNH5_ENST00000420622.2_Missense_Mutation_p.P2S|KCNH5_ENST00000394968.1_Intron NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 2 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TTGCCCCCCGGCATCCTGGGT 0.602000 3 42 0 0 1 0 0 IQSEC3 440073 broad.mit.edu 37 12 247904 247904 + Missense_Mutation SNP G G A TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chr12:247904G>A ENST00000538872.1 + 4 1493 c.1375G>A c.(1375-1377)Gcg>Acg p.A459T IQSEC3_ENST00000382841.2_Missense_Mutation_p.A156T|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.A459T Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 459 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) gccggagagcgcgggccccgg 0.776000 3 5 0 0 1 0 0 IL2RB 3560 broad.mit.edu 37 22 37538550 37538550 + Missense_Mutation SNP C C T TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chr22:37538550C>T ENST00000216223.5 - 4 404 c.206G>A c.(205-207)cGg>cAg p.R69Q NM_000878.3 NP_000869.1 P14784 IL2RB_HUMAN interleukin 2 receptor, beta 69 interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) TTGGTTCCACCGCCTTTCATG 0.577000 6 54 0 0 1 0 0 VNN2 8875 broad.mit.edu 37 6 133073759 133073759 + Missense_Mutation SNP G G T TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chr6:133073759G>T ENST00000326499.6 - 4 791 c.667C>A c.(667-669)Ctg>Atg p.L223M VNN2_ENST00000525270.1_Missense_Mutation_p.L170M|VNN2_ENST00000525289.1_Intron NM_004665.2 NP_004656.2 O95498 VNN2_HUMAN vanin 2 223 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) TCTTTCACCAGGGTAACACCA 0.443000 4 69 0.00909568 0.00970206 1 1 0 TUBB8P7 197331 broad.mit.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chr16:90162620T>G ENST00000564451.1 + 0 1973 CTAGGTAAAGTGGGGAAGCAG 0.483000 4 167 0 0 1 0 0 IGKV3-20 28912 broad.mit.edu 37 2 89442552 89442552 + RNA SNP A A G TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chr2:89442552A>G ENST00000492167.1 - 0 91 CCTGGGAGCCAGAGTAGCAGG 0.507000 40 41 0 0 1 0 0 LINC01420 550643 broad.mit.edu 37 X 56763812 56763812 + RNA SNP A A G TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chrX:56763812A>G ENST00000374922.4 + 0 468 NR_015367.2 GTCAGGTCCAATGCACTCTTA 0.393000 22 19 0 0 1 0 0 SYT6 148281 broad.mit.edu 37 1 114680328 114680328 + Missense_Mutation SNP C C T TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chr1:114680328C>T ENST00000393296.1 - 3 937 c.860G>A c.(859-861)cGc>cAc p.R287H SYT6_ENST00000369547.1_Missense_Mutation_p.R202H Q5T7P8 SYT6_HUMAN synaptotagmin VI 287 C2 1. acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CAGGGTCTTGCGGTGCACCCG 0.547000 5 26 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14852025 14852025 + Missense_Mutation SNP G G T TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chr18:14852025G>T ENST00000358984.4 + 36 3905 c.3725G>T c.(3724-3726)aGc>aTc p.S1242I NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1327 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 AAATCCAAAAGCCCAAAAATT 0.363000 7 6 0.27861 0.27861 1 1 0 IL34 146433 broad.mit.edu 37 16 70688489 70688489 + Missense_Mutation SNP T T C TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chr16:70688489T>C ENST00000429149.2 + 3 632 c.77T>C c.(76-78)aTg>aCg p.M26T IL34_ENST00000288098.2_Missense_Mutation_p.M26T|IL34_ENST00000566361.1_Start_Codon_SNP_p.M1T|IL34_ENST00000569641.1_Intron NM_001172771.1|NM_152456.2 NP_001166242.1|NP_689669.2 Q6ZMJ4 IL34_HUMAN interleukin 34 26 positive regulation of cell proliferation|positive regulation of protein phosphorylation extracellular space cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2) 17 CCTTTGGAGATGTGGCCCTTG 0.567000 OREG0023916 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 30 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32633094 32633094 + Silent SNP A A T TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chr9:32633094A>T ENST00000242310.4 - 1 2573 c.2484T>A c.(2482-2484)gtT>gtA p.V828V NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 828 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) GGTAAATAAAAACCTGTAGAA 0.438000 47 57 0 0 1 0 0 KCNN3 3782 broad.mit.edu 37 1 154842200 154842202 + In_Frame_Del DEL GCT GCT - rs58327065 TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chr1:154842200_154842202delGCT ENST00000271915.3 - 1 554_556 c.239_241delAGC c.(238-243)cca>c p.QP80del NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 80 Poly-Gln. integral to membrane calmodulin binding p.Q80_P81insQQ(2) cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GGATGCGGTGgctgctgctgctg 0.700 3 3 --- --- --- --- PDE2A 5138 broad.mit.edu 37 11 72292484 72292484 + Frame_Shift_Del DEL G G - TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chr11:72292484delG ENST00000334456.5 - 23 2207 c.1962delC c.(1960-1962)ccfs p.P654fs PDE2A_ENST00000444035.2_Frame_Shift_Del_p.P645fs|PDE2A_ENST00000418754.2_Frame_Shift_Del_p.P539fs|PDE2A_ENST00000376450.3_Frame_Shift_Del_p.P398fs|PDE2A_ENST00000540345.1_Frame_Shift_Del_p.P645fs|PDE2A_ENST00000544570.1_Frame_Shift_Del_p.P647fs NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 654 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) AGTTGTGGTAGGGGGGATCCC 0.582 2 4 --- --- --- --- DLAT 1737 broad.mit.edu 37 11 111930686 111930690 + Frame_Shift_Del DEL TTGTG TTGTG - TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chr11:111930686_111930690delTTGTG ENST00000280346.6 + 12 2233_2237 c.1574_1578delTTGTG c.(1573-1578)afs p.IV525fs DLAT_ENST00000537636.1_Frame_Shift_Del_p.IV296fs|DLAT_ENST00000393051.1_Frame_Shift_Del_p.IV420fs NM_001931.4 NP_001922.2 P10515 ODP2_HUMAN dihydrolipoamide S-acetyltransferase 525 Catalytic (By similarity). glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial pyruvate dehydrogenase complex dihydrolipoyllysine-residue acetyltransferase activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1) 22 all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557) NADH(DB00157) ATCACACCTATTGTGTTTAATGCAC 0.351 8 21 --- --- --- --- SREBF1 6720 broad.mit.edu 37 17 17718150 17718152 + Splice_Site DEL GGT GGT - rs143021204 TCGA-TT-A6YJ-01A-11D-A35I-08 TCGA-TT-A6YJ-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa692ea3-6a32-4874-9a85-1d116dbdbb67 14d15ddc-360d-4895-ba5a-fdeec5ee713f g.chr17:17718150_17718152delGGT ENST00000355815.4 - 15 2858_2860 c.2692_splice c.e15+1 p.T897_splice SREBF1_ENST00000395757.1_Splice_Site_p.T613_splice|SREBF1_ENST00000338854.5_Splice_Site_p.T867_splice|SREBF1_ENST00000261646.5_Splice_Site_p.T867_splice NM_001005291.2 NP_001005291.1 P36956 SRBP1_HUMAN sterol regulatory element binding transcription factor 1 867 cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 14 GGGACTCACCGGTGGTGGTGGCC 0.655 2 4 --- --- --- ---