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 SDHAP3 728609 broad.mit.edu 37 5 1593261 1593261 + RNA SNP A A T TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr5:1593261A>T ENST00000436493.2 - 0 364 CTCAGGGCACATGCCTGACCA 0.542000 4 26 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713407 142713407 + RNA SNP C C T rs142431664 by1000genomes TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr1:142713407C>T ENST00000369381.2 - 0 1198 CAGTAAGAAACTCATTCTTAT 0.318000 3 16 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 5963272 5963272 + Silent SNP G G A TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr12:5963272G>A ENST00000327087.8 - 4 629 c.558C>T c.(556-558)caC>caT p.H186H ANO2_ENST00000546188.1_Silent_p.H186H|ANO2_ENST00000356134.5_Silent_p.H186H Q9NQ90 ANO2_HUMAN anoctamin 2 190 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 GCCACGGGGCGTGTATCCGGA 0.468000 19 82 0 0 1 0 0 LPPR4 9890 broad.mit.edu 37 1 99772002 99772002 + Silent SNP C C T TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr1:99772002C>T ENST00000370185.3 + 7 2225 c.1728C>T c.(1726-1728)atC>atT p.I576I LPPR4_ENST00000457765.1_Silent_p.I518I|LPPR4_ENST00000370184.1_Silent_p.I418I NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 576 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) AGCCCCGAATCATGCAAGTCA 0.547000 6 35 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33577007 33577007 + Missense_Mutation SNP T T C TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr5:33577007T>C ENST00000504830.1 - 19 3459 c.3124A>G c.(3124-3126)Agc>Ggc p.S1042G ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S957G NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1042 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GTGCTTGTGCTCATAGACTCA 0.537000 HNSCC(64;0.19) 3 38 0 0 1 0 0 ASZ1 136991 broad.mit.edu 37 7 117025822 117025822 + Missense_Mutation SNP T T C TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr7:117025822T>C ENST00000284629.2 - 5 544 c.482A>G c.(481-483)cAc>cGc p.H161R NM_130768.2 NP_570124.1 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper domain containing 1 161 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) AACCTGGGTGTGACCATCTCG 0.408000 3 31 0 0 1 0 0 OSBP 5007 broad.mit.edu 37 11 59382787 59382787 + Silent SNP C C A TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr11:59382787C>A ENST00000263847.1 - 1 830 c.351G>T c.(349-351)ctG>ctT p.L117L NM_002556.2 NP_002547.1 P22059 OSBP1_HUMAN oxysterol binding protein 117 PH. lipid transport Golgi membrane oxysterol binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) TGTAGTAGCTCAGGAGCCCGT 0.617000 3 9 0.004672 0.004672 1 1 0 FBN3 84467 broad.mit.edu 37 19 8181576 8181576 + Missense_Mutation SNP C C T TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr19:8181576C>T ENST00000600128.1 - 29 4108 c.3694G>A c.(3694-3696)Gac>Aac p.D1232N FBN3_ENST00000601739.1_Missense_Mutation_p.D1232N|FBN3_ENST00000270509.2_Missense_Mutation_p.D1232N Q75N90 FBN3_HUMAN fibrillin 3 1232 EGF-like 17. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GTCCTCATGTCTGGCGTGGCC 0.617000 15 26 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8130917 8130917 + Silent SNP G G C TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr19:8130917G>C ENST00000600128.1 - 64 8730 c.8316C>G c.(8314-8316)acC>acG p.T2772T FBN3_ENST00000601739.1_Silent_p.T2772T|FBN3_ENST00000270509.2_Silent_p.T2772T Q75N90 FBN3_HUMAN fibrillin 3 2772 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CCAGCCGGTAGGTTCCAGGCC 0.677000 10 45 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21607388 21607388 + Missense_Mutation SNP C C G TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr19:21607388C>G ENST00000392288.2 + 4 2036 c.1927C>G c.(1927-1929)Cac>Gac p.H643D CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.H515D NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 515 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 GCGGTCCTCACACCTCGCTGG 0.368000 3 36 0 0 1 0 0 ZNF334 55713 broad.mit.edu 37 20 45130892 45130892 + Silent SNP C C T rs140945220 TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr20:45130892C>T ENST00000457685.2 - 6 2295 c.972G>A c.(970-972)tcG>tcA p.S324S ZNF334_ENST00000347606.4_Silent_p.S362S|ZNF334_ENST00000593880.1_Silent_p.S385S Q9HCZ1 ZN334_HUMAN zinc finger protein 334 362 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) CAACAAGATACGATTTCTTGC 0.458000 4 127 0 0 1 0 0 PAXIP1 22976 broad.mit.edu 37 7 154767578 154767578 + Missense_Mutation SNP C C T TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr7:154767578C>T ENST00000404141.1 - 6 1056 c.902G>A c.(901-903)gGt>gAt p.G301D PAXIP1_ENST00000397192.1_Missense_Mutation_p.G301D|PAXIP1_ENST00000473219.1_5'UTR Q6ZW49 PAXI1_HUMAN PAX interacting (with transcription-activation domain) protein 1 301 DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent histone methyltransferase complex|nuclear matrix NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 33 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0296) UCEC - Uterine corpus endometrioid carcinoma (81;0.178) CAAAATGTTACCTGGGACGGG 0.527000 4 18 0 0 1 0 0 KCNN2 3781 broad.mit.edu 37 5 113698631 113698632 + In_Frame_Ins INS - - GCC rs34838882 by1000genomes TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr5:113698631_113698632insGCC ENST00000512097.3 + 2 1177_1178 c.159_160insGCC c.(157-162)gcccgc>gcGCCccgc p.53_54AR>APR KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 53 Poly-Ala. integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CTGCAGCCGCTGCCGCCGCCGC 0.703 4 8 --- --- --- --- SUDS3P1 285647 broad.mit.edu 37 5 177398373 177398396 + RNA DEL AGGACGAAGAGCTGGAGAGCGCCA AGGACGAAGAGCTGGAGAGCGCCA - rs70994948 TCGA-TT-A6YP-01A-21D-A35I-08 TCGA-TT-A6YP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5dbc0-ffda-4944-a0b0-babb48f5eae7 126f9367-4a45-464a-a3f6-7708d2f07961 g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA ENST00000511650.1 + 0 145 GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA 0.683 5 5 --- --- --- ---