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 KRTAP5-3 387266 broad.mit.edu 37 11 1629156 1629156 + Missense_Mutation SNP T T A rs75371407 TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr11:1629156T>A ENST00000399685.1 - 1 537 c.460A>T c.(460-462)Agc>Tgc p.S154C NM_001012708.2 NP_001012726.1 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 154 11 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) TGGGAGCAGCTGGGCTTGCAG 0.627000 4 242 0 0 1 0 0 AIM2 9447 broad.mit.edu 37 1 159033464 159033464 + Splice_Site SNP C C A TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr1:159033464C>A ENST00000368130.4 - 5 1105 c.816_splice c.e5-1 p.V273_splice AIM2_ENST00000481829.1_5'UTR NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 273 HIN-200. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) TTTTCTGTTACCTATAAAAGA 0.383000 4 97 1 1 1 1 0 CSGALNACT1 55790 broad.mit.edu 37 8 19263389 19263389 + Missense_Mutation SNP C C T TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr8:19263389C>T ENST00000454498.2 - 10 2514 c.1501G>A c.(1501-1503)Gag>Aag p.E501K CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.E501K|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.E501K|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.E501K|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.E501K NM_001130518.1 NP_001123990.1 Q8TDX6 CGAT1_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 1 501 anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(111;0.182) TGGGATGCCTCGTTCATGGCC 0.552000 6 82 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr16:90162620T>G ENST00000564451.1 + 0 1973 CTAGGTAAAGTGGGGAAGCAG 0.483000 4 139 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102293007 102293007 + RNA SNP C C G TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr15:102293007C>G ENST00000561463.1 + 0 1053 CGCGTGGGAACAAGAAGACAC 0.582000 2 1 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11136124 11136124 + Missense_Mutation SNP G G C rs1801514 TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr19:11136124G>C ENST00000358026.2 + 22 3392 c.3108G>C c.(3106-3108)atG>atC p.M1036I SMARCA4_ENST00000541122.2_Missense_Mutation_p.M1036I|SMARCA4_ENST00000450717.3_Missense_Mutation_p.M1036I|SMARCA4_ENST00000444061.3_Missense_Mutation_p.M1036I|SMARCA4_ENST00000429416.3_Missense_Mutation_p.M1036I|SMARCA4_ENST00000413806.3_Missense_Mutation_p.M1036I|SMARCA4_ENST00000344626.4_Missense_Mutation_p.M1036I|SMARCA4_ENST00000589677.1_Missense_Mutation_p.M1036I|SMARCA4_ENST00000590574.1_Missense_Mutation_p.M1036I NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1036 M -> I (in dbSNP:rs1801514). chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) AGACCCTGATGAACACCATCA 0.637000 """F, N, Mis""" NSCLC 4 34 0 0 1 0 0 DPY19L2P2 349152 broad.mit.edu 37 7 102912190 102912190 + RNA SNP T T G TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr7:102912190T>G ENST00000312132.4 - 0 2389 TCTGGATAAATATGGAAGCGT 0.343000 3 36 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276052 186276052 + Missense_Mutation SNP A A C TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr1:186276052A>C ENST00000445192.2 + 7 1246 c.1201A>C c.(1201-1203)Acc>Ccc p.T401P PRG4_ENST00000367483.4_Missense_Mutation_p.T360P|PRG4_ENST00000367485.4_Missense_Mutation_p.T308P|PRG4_ENST00000367486.3_Missense_Mutation_p.T358P|PRG4_ENST00000367484.3_Missense_Mutation_p.T360P NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 401 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T401P(4)|p.T400>?(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCCACCACCACCAAGGAGCC 0.642000 5 59 0 0 1 0 0 SSX3 10214 broad.mit.edu 37 X 48206947 48206947 + Missense_Mutation SNP C C A TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chrX:48206947C>A ENST00000298396.2 - 7 611 c.559G>T c.(559-561)Gat>Tat p.D187Y SSX3_ENST00000376895.1_Missense_Mutation_p.D99Y NM_021014.2 NP_066294.1 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 187 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|large_intestine(1)|lung(9) 13 AGTTACTCATCATCTTCCTCA 0.502000 125 159 9.55279e-52 1.05081e-51 1 1 0 LOC101927209 101927209 broad.mit.edu 37 1 142713944 142713944 + RNA SNP C C T TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr1:142713944C>T ENST00000369381.2 - 0 661 TGATTACCTCCGAAGTTAAAG 0.308000 4 29 0 0 1 0 0 FAM166A 401565 broad.mit.edu 37 9 140139634 140139634 + Missense_Mutation SNP C C G TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr9:140139634C>G ENST00000344774.4 - 4 613 c.559G>C c.(559-561)Gcc>Ccc p.A187P FAM166A_ENST00000388932.2_Missense_Mutation_p.A187P NM_001001710.1 NP_001001710.1 Q6J272 F166A_HUMAN family with sequence similarity 166, member A 187 kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2) 15 TGGCGGCGGGCGGGGGGTGGG 0.662000 5 38 0 0 1 0 0 NINL 22981 broad.mit.edu 37 20 25459587 25459587 + Missense_Mutation SNP G G A TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr20:25459587G>A ENST00000278886.6 - 16 2246 c.2173C>T c.(2173-2175)Cgg>Tgg p.R725W NINL_ENST00000422516.1_Missense_Mutation_p.R725W NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 725 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 CTGTGATGCCGCAGGGCCAGG 0.592000 3 36 0 0 1 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140712578 140712578 + Missense_Mutation SNP C C T TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr5:140712578C>T ENST00000517417.1 + 1 2327 c.2327C>T c.(2326-2328)gCg>gTg p.A776V PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A776V NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCAACTATGCGGACACACTC 0.527000 4 198 0 0 1 0 0 TUBB4A 10382 broad.mit.edu 37 19 6495551 6495551 + Missense_Mutation SNP C C T TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr19:6495551C>T ENST00000264071.2 - 4 1330 c.959G>A c.(958-960)cGc>cAc p.R320H TUBB4A_ENST00000540257.1_Missense_Mutation_p.R320H P04350 TBB4_HUMAN tubulin, beta 4A class IVa 320 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity CATGGACATGCGGCCCCGGAA 0.637000 4 123 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23909416 23909416 + Missense_Mutation SNP C C A TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr13:23909416C>A ENST00000382298.3 - 10 9187 c.8599G>T c.(8599-8601)Gcc>Tcc p.A2867S SACS_ENST00000382292.3_Missense_Mutation_p.A2867S|SACS_ENST00000402364.1_Missense_Mutation_p.A2117S NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 2867 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AAACAGAAGGCCCTATGGGGT 0.453000 27 34 3.73148e-12 3.90917e-12 1 1 0 TAS2R60 338398 broad.mit.edu 37 7 143140670 143140670 + Missense_Mutation SNP T T C TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr7:143140670T>C ENST00000332690.1 + 1 125 c.125T>C c.(124-126)cTg>cCg p.L42P EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 42 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) ACTGCTGCTCTGGGCGTGGAG 0.502000 14 137 0 0 1 0 0 FAM162A 26355 broad.mit.edu 37 3 122103139 122103139 + Frame_Shift_Del DEL G G - TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr3:122103139delG ENST00000477892.1 + 1 111 c.27delG c.(25-27)ctfs p.L9fs FAM162A_ENST00000232125.5_5'UTR|FAM162A_ENST00000469967.1_Frame_Shift_Del_p.L9fs NM_014367.3 NP_055182.3 Q96A26 F162A_HUMAN family with sequence similarity 162, member A 9 integral to membrane breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 6 GTCTGCGCCTGGCAGCAGGTG 0.692 2 4 --- --- --- --- CORO1B 57175 broad.mit.edu 37 11 67209168 67209168 + Frame_Shift_Del DEL G G - TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr11:67209168delG ENST00000545016.1 - 4 575 c.490delC c.(490-492)acfs p.H164fs CORO1B_ENST00000341356.5_Intron|CORO1B_ENST00000453768.2_Intron|CORO1B_ENST00000393893.1_Intron Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 0 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) AGGGGTCCGTGGGGGGGGGGA 0.657 6 12 --- --- --- --- GOLGA2P9 440518 broad.mit.edu 37 19 22779215 22779215 + RNA DEL G G - rs113336402 TCGA-W2-A7HF-01A-11D-A35I-08 TCGA-W2-A7HF-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95b7745a-0f8b-4cb5-81b5-12a66d55aeff bee9bc77-03d3-44a2-9668-fffc359ed20f g.chr19:22779215delG ENST00000600260.1 + 0 157 NR_033899.1 CAGCAGCAAAGAAAAAGGTAC 0.612 4 3 --- --- --- ---