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 PELP1 27043 broad.mit.edu 37 17 4575893 4575893 + Missense_Mutation SNP A A G TCGA-EL-A3ZN-01A-11D-A23M-08 TCGA-EL-A3ZN-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a9cae6-bfb5-44e3-a869-2afeb05d7cb8 5fdac115-dce2-4082-b319-ff754a29233f g.chr17:4575893A>G ENST00000301396.4 - 16 3050 c.2825T>C c.(2824-2826)cTg>cCg p.L942P PELP1_ENST00000574876.1_Missense_Mutation_p.L798P|PELP1_ENST00000572293.1_Missense_Mutation_p.L848P|PELP1_ENST00000269230.7_Missense_Mutation_p.L708P|PELP1_ENST00000436683.2_Missense_Mutation_p.L651P Q8IZL8 PELP1_HUMAN proline, glutamate and leucine rich protein 1 798 Glu-rich. transcription, DNA-dependent cytoplasm|MLL1 complex protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 TGGGGGTGGCAGGGGGGGAAG 0.612000 3 22 0 0 1 0 0 PGR 5241 broad.mit.edu 37 11 100922214 100922214 + Silent SNP T T C TCGA-EL-A3ZN-01A-11D-A23M-08 TCGA-EL-A3ZN-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a9cae6-bfb5-44e3-a869-2afeb05d7cb8 5fdac115-dce2-4082-b319-ff754a29233f g.chr11:100922214T>C ENST00000325455.5 - 5 3751 c.2298A>G c.(2296-2298)agA>agG p.R766R PGR_ENST00000263463.5_Silent_p.R664R|PGR_ENST00000534013.1_Silent_p.R172R NM_000926.4|NM_001202474.1 NP_000917.3|NP_001189403.1 P06401 PRGR_HUMAN progesterone receptor 766 Steroid-binding. 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 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) GTTTGTAGGATCTCCATCCTA 0.343000 24 45 0 0 1 0 0 CHEK2P2 0 broad.mit.edu 37 15 20496770 20496770 + RNA SNP T T C rs3865047 by1000genomes TCGA-EL-A3ZN-01A-11D-A23M-08 TCGA-EL-A3ZN-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a9cae6-bfb5-44e3-a869-2afeb05d7cb8 5fdac115-dce2-4082-b319-ff754a29233f g.chr15:20496770T>C ENST00000555186.1 + 0 823 NR_038836.1 TTATAGTGTGTATTTTAATTA 0.353000 5 25 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63727074 63727074 + Missense_Mutation SNP A A G TCGA-EL-A3ZN-01A-11D-A23M-08 TCGA-EL-A3ZN-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a9cae6-bfb5-44e3-a869-2afeb05d7cb8 5fdac115-dce2-4082-b319-ff754a29233f g.chr7:63727074A>G ENST00000421025.1 + 5 1332 c.1063A>G c.(1063-1065)Aaa>Gaa p.K355E ZNF679_ENST00000255746.4_Missense_Mutation_p.K355E NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 355 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 CTACAAATGTAAAGAATGTGG 0.398000 3 21 0 0 1 0 0 HERC3 8916 broad.mit.edu 37 4 89577214 89577214 + Missense_Mutation SNP A A T rs2972040 by1000genomes TCGA-EL-A3ZN-01A-11D-A23M-08 TCGA-EL-A3ZN-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a9cae6-bfb5-44e3-a869-2afeb05d7cb8 5fdac115-dce2-4082-b319-ff754a29233f g.chr4:89577214A>T ENST00000407637.1 + 9 1263 c.1097A>T c.(1096-1098)aAg>aTg p.K366M HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 0 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) TGGAATTTAAAGGTATTTTAA 0.388000 4 34 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1268402 1268402 + Missense_Mutation SNP G G A TCGA-EL-A3ZN-01A-11D-A23M-08 TCGA-EL-A3ZN-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a9cae6-bfb5-44e3-a869-2afeb05d7cb8 5fdac115-dce2-4082-b319-ff754a29233f g.chr11:1268402G>A ENST00000447027.1 + 31 10359 c.10301G>A c.(10300-10302)aGc>aAc p.S3434N MUC5B_ENST00000529681.1_Missense_Mutation_p.S3431N|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3431 17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.S3410N(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) gccaccagcagcacAGTGACT 0.682000 3 16 0 0 1 0 0 KIAA1683 80726 broad.mit.edu 37 19 18368857 18368857 + Silent SNP G G A TCGA-EL-A3ZN-01A-11D-A23M-08 TCGA-EL-A3ZN-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a9cae6-bfb5-44e3-a869-2afeb05d7cb8 5fdac115-dce2-4082-b319-ff754a29233f g.chr19:18368857G>A ENST00000392413.3 - 4 3452 c.3237C>T c.(3235-3237)gcC>gcT p.A1079A KIAA1683_ENST00000600359.2_Silent_p.A846A|KIAA1683_ENST00000600328.2_Silent_p.A892A NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 1090 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CAGCACCCCTGGCTGGCTCCC 0.657000 48 123 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240255569 240255571 + In_Frame_Del DEL GGC GGC - rs71929261 TCGA-EL-A3ZN-01A-11D-A23M-08 TCGA-EL-A3ZN-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a9cae6-bfb5-44e3-a869-2afeb05d7cb8 5fdac115-dce2-4082-b319-ff754a29233f g.chr1:240255569_240255571delGGC ENST00000319653.9 + 1 390_392 c.160_162delGGC c.(160-162)del p.G59del NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 59 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.G197delG(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GGGGGGAgggggcggcggcggcg 0.665 7 10 --- --- --- --- CTD-2049J23.2 0 broad.mit.edu 37 3 159820698 159820698 + RNA DEL A A - TCGA-EL-A3ZN-01A-11D-A23M-08 TCGA-EL-A3ZN-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a9cae6-bfb5-44e3-a869-2afeb05d7cb8 5fdac115-dce2-4082-b319-ff754a29233f g.chr3:159820698delA ENST00000497452.1 - 0 517 TGGAacagtgaaaaaaaaaag 0.279 2 4 --- --- --- --- FAM162B 221303 broad.mit.edu 37 6 117086593 117086593 + Frame_Shift_Del DEL G G - TCGA-EL-A3ZN-01A-11D-A23M-08 TCGA-EL-A3ZN-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a9cae6-bfb5-44e3-a869-2afeb05d7cb8 5fdac115-dce2-4082-b319-ff754a29233f g.chr6:117086593delG ENST00000368557.4 - 1 293 c.147delC c.(145-147)ccfs p.P49fs NM_001085480.2 NP_001078949.1 Q5T6X4 F162B_HUMAN family with sequence similarity 162, member B 49 integral to membrane large_intestine(2)|lung(4) 6 CAGAATTGCTGGGGGCCCCGC 0.771 2 4 --- --- --- --- AC005077.5 0 broad.mit.edu 37 7 75804672 75804673 + RNA INS - - A TCGA-EL-A3ZN-01A-11D-A23M-08 TCGA-EL-A3ZN-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a9cae6-bfb5-44e3-a869-2afeb05d7cb8 5fdac115-dce2-4082-b319-ff754a29233f g.chr7:75804672_75804673insA ENST00000437494.1 + 0 57 catctcgaaccaaaaaaaaaag 0.545 2 4 --- --- --- --- RP11-586K2.1 0 broad.mit.edu 37 8 89498122 89498122 + RNA DEL A A - TCGA-EL-A3ZN-01A-11D-A23M-08 TCGA-EL-A3ZN-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a9cae6-bfb5-44e3-a869-2afeb05d7cb8 5fdac115-dce2-4082-b319-ff754a29233f g.chr8:89498122delA ENST00000521433.1 + 0 179 RP11-586K2.1_ENST00000523254.1_RNA aacagctatgaaaaaaaaaac 0.383 2 4 --- --- --- ---