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 RYR1 6261 broad.mit.edu 37 19 38993288 38993288 + Missense_Mutation SNP G G A TCGA-ET-A3DQ-01A-11D-A19J-08 TCGA-ET-A3DQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d911ad12-c0cf-485b-acb4-13ce9e0385ea c77ff260-24f6-413f-9bed-4f2975f54f41 g.chr19:38993288G>A ENST00000355481.4 + 48 7887 c.7756G>A c.(7756-7758)Gtg>Atg p.V2586M RYR1_ENST00000359596.3_Missense_Mutation_p.V2586M|RYR1_ENST00000360985.3_Missense_Mutation_p.V2586M NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2586 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCTGCATACCGTGTACCGCCT 0.637000 3 43 0 0 0.150653 0 0 POM121L9P 0 broad.mit.edu 37 22 24659593 24659593 + RNA SNP C C T TCGA-ET-A3DQ-01A-11D-A19J-08 TCGA-ET-A3DQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d911ad12-c0cf-485b-acb4-13ce9e0385ea c77ff260-24f6-413f-9bed-4f2975f54f41 g.chr22:24659593C>T ENST00000414583.2 + 0 3118 NR_003714.1 TCACTGACATCGAAGGCTGCC 0.632000 4 18 0 0 0.307466 0 0 FAM86C1 55199 broad.mit.edu 37 11 71502813 71502813 + Missense_Mutation SNP A A C TCGA-ET-A3DQ-01A-11D-A19J-08 TCGA-ET-A3DQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d911ad12-c0cf-485b-acb4-13ce9e0385ea c77ff260-24f6-413f-9bed-4f2975f54f41 g.chr11:71502813A>C ENST00000426628.2 + 3 207 c.188A>C c.(187-189)cAc>cCc p.H63P FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000528685.1_Intron|FAM86C1_ENST00000346333.6_Intron NM_001099653.1 NP_001093123.1 Q9NVL1 FA86C_HUMAN family with sequence similarity 86, member C1 60 p.H63P(1) lung(1) 1 TGTGTGAAGCACCCGCCGTCA 0.532000 4 39 0 0 0.278610 0 0 POM121L9P 0 broad.mit.edu 37 22 24659591 24659591 + RNA SNP A A G TCGA-ET-A3DQ-01A-11D-A19J-08 TCGA-ET-A3DQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d911ad12-c0cf-485b-acb4-13ce9e0385ea c77ff260-24f6-413f-9bed-4f2975f54f41 g.chr22:24659591A>G ENST00000414583.2 + 0 3116 NR_003714.1 ACTCACTGACATCGAAGGCTG 0.632000 3 20 0 0 0.248553 0 0 KLHL14 57565 broad.mit.edu 37 18 30350455 30350455 + Missense_Mutation SNP C C A TCGA-ET-A3DQ-01A-11D-A19J-08 TCGA-ET-A3DQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d911ad12-c0cf-485b-acb4-13ce9e0385ea c77ff260-24f6-413f-9bed-4f2975f54f41 g.chr18:30350455C>A ENST00000359358.4 - 2 538 c.100G>T c.(100-102)Gac>Tac p.D34Y KLHL14_ENST00000358095.4_Missense_Mutation_p.D34Y|AC012123.1_ENST00000426194.1_Intron NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 34 BTB. cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 AGGGTCACGTCGCAAAACAGC 0.642000 13 47 5.50884e-06 6.6106e-06 0.411799 1 0 TPTE2P6 0 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-ET-A3DQ-01A-11D-A19J-08 TCGA-ET-A3DQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d911ad12-c0cf-485b-acb4-13ce9e0385ea c77ff260-24f6-413f-9bed-4f2975f54f41 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 5 41 0 0 0.278610 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-ET-A3DQ-01A-11D-A19J-08 TCGA-ET-A3DQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d911ad12-c0cf-485b-acb4-13ce9e0385ea c77ff260-24f6-413f-9bed-4f2975f54f41 g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 4 35 0 0 0.150653 0 0 CITED2 10370 broad.mit.edu 37 6 139694455 139694455 + Silent SNP G G T TCGA-ET-A3DQ-01A-11D-A19J-08 TCGA-ET-A3DQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d911ad12-c0cf-485b-acb4-13ce9e0385ea c77ff260-24f6-413f-9bed-4f2975f54f41 g.chr6:139694455G>T ENST00000367651.2 - 2 842 c.627C>A c.(625-627)ccC>ccA p.P209P CITED2_ENST00000536159.1_Silent_p.P209P|CITED2_ENST00000537332.1_Silent_p.P209P NM_006079.4 NP_006070.2 Q99967 CITE2_HUMAN Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 209 adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination cytoplasm|nuclear chromatin|nucleus chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity large_intestine(1)|lung(4) 5 Breast(32;0.226) GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134) GCATTGCAGCGGGGACGTGGG 0.647000 12 84 0.000151284 0.000172897 0.435327 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-ET-A3DQ-01A-11D-A19J-08 TCGA-ET-A3DQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d911ad12-c0cf-485b-acb4-13ce9e0385ea c77ff260-24f6-413f-9bed-4f2975f54f41 g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 5 35 0 0 0.184627 0 0 CASP7 840 broad.mit.edu 37 10 115481474 115481474 + Silent SNP G G T TCGA-ET-A3DQ-01A-11D-A19J-08 TCGA-ET-A3DQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d911ad12-c0cf-485b-acb4-13ce9e0385ea c77ff260-24f6-413f-9bed-4f2975f54f41 g.chr10:115481474G>T ENST00000369321.2 + 5 731 c.411G>T c.(409-411)ctG>ctT p.L137L CASP7_ENST00000369331.4_Silent_p.L104L|CASP7_ENST00000369315.1_Silent_p.L104L|CASP7_ENST00000452490.2_Silent_p.L79L|CASP7_ENST00000345633.4_Silent_p.L104L|CASP7_ENST00000369318.3_Silent_p.L104L NM_033338.5 NP_203124.1 P55210 CASP7_HUMAN caspase 7, apoptosis-related cysteine peptidase 104 activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm cysteine-type endopeptidase activity|protein binding kidney(1)|large_intestine(1)|lung(5)|ovary(1) 8 Colorectal(252;0.0946)|Breast(234;0.188) Epithelial(162;0.012)|all cancers(201;0.014) TCCGAAGCCTGGGTTTTGACG 0.498000 21 115 3.5997e-14 4.54699e-14 0.624587 1 0 ZDHHC8 29801 broad.mit.edu 37 22 20130550 20130550 + Missense_Mutation SNP C C T TCGA-ET-A3DQ-01A-11D-A19J-08 TCGA-ET-A3DQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d911ad12-c0cf-485b-acb4-13ce9e0385ea c77ff260-24f6-413f-9bed-4f2975f54f41 g.chr22:20130550C>T ENST00000334554.7 + 10 1538 c.1397C>T c.(1396-1398)gCc>gTc p.A466V ZDHHC8_ENST00000405930.3_Missense_Mutation_p.A466V|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.A374V NM_013373.3 NP_037505.1 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC-type containing 8 466 cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 20 Colorectal(54;0.0993) AGCATTTTTGCCCCCCATGCA 0.697000 3 41 0 0 0.115264 0 0 ZMYND15 84225 broad.mit.edu 37 17 4643964 4643964 + Silent SNP C C A TCGA-ET-A3DQ-01A-11D-A19J-08 TCGA-ET-A3DQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d911ad12-c0cf-485b-acb4-13ce9e0385ea c77ff260-24f6-413f-9bed-4f2975f54f41 g.chr17:4643964C>A ENST00000433935.1 + 2 178 c.121C>A c.(121-123)Cgg>Agg p.R41R ZMYND15_ENST00000269289.6_Silent_p.R41R|ZMYND15_ENST00000592813.1_Silent_p.R41R|ZMYND15_ENST00000573751.2_Silent_p.R41R NM_001136046.2|NM_001267822.1 NP_001129518.1|NP_001254751.1 Q9H091 ZMY15_HUMAN zinc finger, MYND-type containing 15 41 zinc ion binding endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2) 18 GGGCCGCTGCCGGCAGCTGGA 0.612000 3 39 0.115264 0.125743 0.115264 1 0 OTOP1 133060 broad.mit.edu 37 4 4228274 4228282 + In_Frame_Del DEL CCACAGCAG CCACAGCAG - rs111245977 TCGA-ET-A3DQ-01A-11D-A19J-08 TCGA-ET-A3DQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d911ad12-c0cf-485b-acb4-13ce9e0385ea c77ff260-24f6-413f-9bed-4f2975f54f41 g.chr4:4228274_4228282delCCACAGCAG ENST00000296358.4 - 1 334_342 c.310_318delCTGCTGTGG c.(310-318)del p.LLW104del NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 104 biomineral tissue development extracellular space|integral to membrane p.L104_W106delLLW(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ACCACAGCATCCACAGCAGCTGCAGCAGC 0.727 8 21 --- --- --- --- TSKU 25987 broad.mit.edu 37 11 76506673 76506675 + In_Frame_Del DEL CTG CTG - TCGA-ET-A3DQ-01A-11D-A19J-08 TCGA-ET-A3DQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d911ad12-c0cf-485b-acb4-13ce9e0385ea c77ff260-24f6-413f-9bed-4f2975f54f41 g.chr11:76506673_76506675delCTG ENST00000527881.1 + 2 1039_1041 c.13_15delCTG c.(13-15)del p.L9del TSKU_ENST00000333090.4_In_Frame_Del_p.L9del Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 9 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) GCCGTGGCCCCTGCTGCTGCTGC 0.616 7 68 --- --- --- --- FSCB 84075 broad.mit.edu 37 14 44974154 44974155 + In_Frame_Ins INS - - GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG rs71108655 byFrequency TCGA-ET-A3DQ-01A-11D-A19J-08 TCGA-ET-A3DQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d911ad12-c0cf-485b-acb4-13ce9e0385ea c77ff260-24f6-413f-9bed-4f2975f54f41 g.chr14:44974154_44974155insGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG ENST00000340446.4 - 1 2327_2328 c.2036_2037insCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC c.(2035-2037)cgc>cCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCCgc p.678_679insPLKFSLHQLRRP NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 678 Ala-rich. cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) GAACTTCAGCAGGGGCCTCCTC 0.604 7 27 --- --- --- --- AC008103.5 0 broad.mit.edu 37 22 18843723 18843724 + RNA INS - - A TCGA-ET-A3DQ-01A-11D-A19J-08 TCGA-ET-A3DQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d911ad12-c0cf-485b-acb4-13ce9e0385ea c77ff260-24f6-413f-9bed-4f2975f54f41 g.chr22:18843723_18843724insA ENST00000412938.1 + 0 2337 AGGGGCACCCCACGGCCTGGAG 0.619 2 4 --- --- --- ---