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 PCED1A 64773 broad.mit.edu 37 20 2820542 2820542 + Missense_Mutation SNP G G A TCGA-KC-A4BR-01A-32D-A257-08 TCGA-KC-A4BR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9ec16d-4591-4e56-8326-9e7883d88483 fee0aa5b-cffd-48d4-bf3c-118855f4ecda g.chr20:2820542G>A ENST00000360652.2 - 2 519 c.17C>T c.(16-18)tCg>tTg p.S6L PCED1A_ENST00000356872.3_Missense_Mutation_p.S6L NM_022760.3 NP_073597.2 PC-esterase domain containing 1A CTCCTCGCTCGACAGACAGAA 0.642000 4 36 0 0 1 0 0 TPRX1 284355 broad.mit.edu 37 19 48305603 48305603 + Missense_Mutation SNP G G A TCGA-KC-A4BR-01A-32D-A257-08 TCGA-KC-A4BR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9ec16d-4591-4e56-8326-9e7883d88483 fee0aa5b-cffd-48d4-bf3c-118855f4ecda g.chr19:48305603G>A ENST00000535759.1 - 4 955 c.956C>T c.(955-957)cCg>cTg p.P319L TPRX1_ENST00000322175.3_Missense_Mutation_p.P222L|TPRX1_ENST00000543508.1_Missense_Mutation_p.P212L Q8N7U7 TPRX1_HUMAN tetra-peptide repeat homeobox 1 222 Gly-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P222L(1) endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1) 18 all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048) gcctgggatcgggcctgggtt 0.667000 2 1 0 0 1 0 0 FBXL14 144699 broad.mit.edu 37 12 1703090 1703090 + Missense_Mutation SNP A A C TCGA-KC-A4BR-01A-32D-A257-08 TCGA-KC-A4BR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9ec16d-4591-4e56-8326-9e7883d88483 fee0aa5b-cffd-48d4-bf3c-118855f4ecda g.chr12:1703090A>C ENST00000339235.3 - 1 241 c.143T>G c.(142-144)gTg>gGg p.V48G WNT5B_ENST00000537031.1_Intron NM_152441.2 NP_689654.1 Q8N1E6 FXL14_HUMAN F-box and leucine-rich repeat protein 14 48 F-box.|Required for down-regulation of SNAI1. cytoplasm endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 8 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00115) CTTGGCCTCCACCCCCCGCCA 0.731000 6 7 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803401 142803401 + RNA SNP C C A rs1920860 by1000genomes TCGA-KC-A4BR-01A-32D-A257-08 TCGA-KC-A4BR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9ec16d-4591-4e56-8326-9e7883d88483 fee0aa5b-cffd-48d4-bf3c-118855f4ecda g.chr1:142803401C>A ENST00000423385.1 - 0 1564 ctgagctcctcaagtgatcct 0.368000 3 15 0.00909568 0.00955046 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141092024 141092024 + Missense_Mutation SNP G G T TCGA-KC-A4BR-01A-32D-A257-08 TCGA-KC-A4BR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9ec16d-4591-4e56-8326-9e7883d88483 fee0aa5b-cffd-48d4-bf3c-118855f4ecda g.chr2:141092024G>T ENST00000389484.3 - 79 13192 c.12221C>A c.(12220-12222)aCa>aAa p.T4074K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4074 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AATCATACCTGTGGGTCTCTG 0.363000 TSP Lung(27;0.18) 4 50 0.150653 0.150653 1 1 0 HIST1H2BG 8339 broad.mit.edu 37 6 26216864 26216864 + Missense_Mutation SNP T T A TCGA-KC-A4BR-01A-32D-A257-08 TCGA-KC-A4BR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9ec16d-4591-4e56-8326-9e7883d88483 fee0aa5b-cffd-48d4-bf3c-118855f4ecda g.chr6:26216864T>A ENST00000244601.3 - 1 8 c.8A>T c.(7-9)gAa>gTa p.E3V NM_003518.3 NP_003509.1 P62807 H2B1C_HUMAN histone cluster 1, H2bg 3 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 8 all_hematologic(11;0.196) CTTAGCTGGTTCAGGCATGCT 0.478000 7 75 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124862887 124862887 + Missense_Mutation SNP G G A TCGA-KC-A4BR-01A-32D-A257-08 TCGA-KC-A4BR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9ec16d-4591-4e56-8326-9e7883d88483 fee0aa5b-cffd-48d4-bf3c-118855f4ecda g.chr12:124862887G>A ENST00000356219.3 - 19 2218 c.2063C>T c.(2062-2064)gCg>gTg p.A688V NCOR2_ENST00000405201.1_Missense_Mutation_p.A688V|NCOR2_ENST00000404621.1_Missense_Mutation_p.A687V|NCOR2_ENST00000404121.2_Missense_Mutation_p.A258V|NCOR2_ENST00000397355.1_Missense_Mutation_p.A688V|NCOR2_ENST00000429285.2_Missense_Mutation_p.A687V NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 688 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GCTGGCCGCCGCCGGCGCTTT 0.662000 3 30 0 0 1 0 0 SPATA21 374955 broad.mit.edu 37 1 16727315 16727315 + Silent SNP C C A TCGA-KC-A4BR-01A-32D-A257-08 TCGA-KC-A4BR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9ec16d-4591-4e56-8326-9e7883d88483 fee0aa5b-cffd-48d4-bf3c-118855f4ecda g.chr1:16727315C>A ENST00000335496.1 - 11 1556 c.1074G>T c.(1072-1074)cgG>cgT p.R358R SPATA21_ENST00000540400.1_Silent_p.R335R|SPATA21_ENST00000466212.1_5'UTR NM_198546.1 NP_940948.1 Q7Z572 SPT21_HUMAN spermatogenesis associated 21 358 calcium ion binding breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2) 19 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) GCTTCTGCAACCGCAGCCGGC 0.577000 8 180 5.18039e-06 6.04379e-06 1 1 0 OR10G4 390264 broad.mit.edu 37 11 123886818 123886818 + Silent SNP C C T rs140418650 TCGA-KC-A4BR-01A-32D-A257-08 TCGA-KC-A4BR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9ec16d-4591-4e56-8326-9e7883d88483 fee0aa5b-cffd-48d4-bf3c-118855f4ecda g.chr11:123886818C>T ENST00000320891.4 + 1 537 c.537C>T c.(535-537)gaC>gaT p.D179D NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) ACTTCTGTGACGCACCGCCCA 0.542000 9 144 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166742 19166742 + Missense_Mutation SNP G G A TCGA-KC-A4BR-01A-32D-A257-08 TCGA-KC-A4BR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9ec16d-4591-4e56-8326-9e7883d88483 fee0aa5b-cffd-48d4-bf3c-118855f4ecda g.chr1:19166742G>A ENST00000375371.3 - 6 1892 c.1871C>T c.(1870-1872)cCg>cTg p.P624L NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 624 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GACCTTGGGCGGCCCCACGTA 0.612000 7 77 0 0 1 0 0 SERPINB3 6317 broad.mit.edu 37 18 61328408 61328408 + Missense_Mutation SNP G G T TCGA-KC-A4BR-01A-32D-A257-08 TCGA-KC-A4BR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9ec16d-4591-4e56-8326-9e7883d88483 fee0aa5b-cffd-48d4-bf3c-118855f4ecda g.chr18:61328408G>T ENST00000283752.5 - 2 186 c.43C>A c.(43-45)Ctg>Atg p.L15M SERPINB3_ENST00000332821.8_Missense_Mutation_p.L15M|SERPINB11_ENST00000489748.1_RNA NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 15 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 TGTTGGAACAGGTCGAACATG 0.433000 8 153 3.09899e-07 3.82816e-07 1 1 0 PGR 5241 broad.mit.edu 37 11 100933406 100933406 + Missense_Mutation SNP C C T rs150584881 TCGA-KC-A4BR-01A-32D-A257-08 TCGA-KC-A4BR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9ec16d-4591-4e56-8326-9e7883d88483 fee0aa5b-cffd-48d4-bf3c-118855f4ecda g.chr11:100933406C>T ENST00000325455.5 - 4 3437 c.1984G>A c.(1984-1986)Gtt>Att p.V662I PGR_ENST00000534013.1_Missense_Mutation_p.V68I|PGR_ENST00000263463.5_Intron NM_000926.4|NM_001202474.1 NP_000917.3|NP_001189403.1 P06401 PRGR_HUMAN progesterone receptor 662 cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding p.V662I(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) TCATTTGGAACGCCCACTGGC 0.418000 7 98 0 0 1 0 0 FIGNL1 63979 broad.mit.edu 37 7 50514797 50514797 + Frame_Shift_Del DEL T T - TCGA-KC-A4BR-01A-32D-A257-08 TCGA-KC-A4BR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9ec16d-4591-4e56-8326-9e7883d88483 fee0aa5b-cffd-48d4-bf3c-118855f4ecda g.chr7:50514797delT ENST00000419119.1 - 2 1742 c.189delA c.(187-189)gcfs p.A63fs FIGNL1_ENST00000435566.1_Intron|FIGNL1_ENST00000433017.1_Frame_Shift_Del_p.A63fs|FIGNL1_ENST00000356889.4_Frame_Shift_Del_p.A63fs|FIGNL1_ENST00000395556.2_Frame_Shift_Del_p.A63fs Q6PIW4 FIGL1_HUMAN fidgetin-like 1 63 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 29 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) AATATTTCTCTGCATATTTTT 0.373 7 62 --- --- --- --- AZGP1P1 0 broad.mit.edu 37 7 99578706 99578706 + RNA DEL A A - TCGA-KC-A4BR-01A-32D-A257-08 TCGA-KC-A4BR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9ec16d-4591-4e56-8326-9e7883d88483 fee0aa5b-cffd-48d4-bf3c-118855f4ecda g.chr7:99578706delA ENST00000425474.1 + 0 87 NR_036679.1 cttagtttacagtgaaaacaa 0.522 2 4 --- --- --- --- ITGA2B 3674 broad.mit.edu 37 17 42461065 42461065 + Frame_Shift_Del DEL C C - TCGA-KC-A4BR-01A-32D-A257-08 TCGA-KC-A4BR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9ec16d-4591-4e56-8326-9e7883d88483 fee0aa5b-cffd-48d4-bf3c-118855f4ecda g.chr17:42461065delC ENST00000262407.5 - 12 1037 c.1006delG c.(1006-1008)atfs p.D336fs ITGA2B_ENST00000353281.4_Frame_Shift_Del_p.D336fs|ITGA2B_ENST00000377068.3_Frame_Shift_Del_p.D21fs NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 336 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) ACCAGCAGATCATGCCTCCTG 0.597 2 4 --- --- --- ---