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 ABCA13 154664 broad.mit.edu 37 7 48311940 48311940 + Missense_Mutation SNP C C T TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr7:48311940C>T ENST00000435803.1 + 17 2701 c.2677C>T c.(2677-2679)Cgt>Tgt p.R893C NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 893 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AGATTTTGTACGTTTAAGTGA 0.383000 11 94 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54754843 54754843 + Missense_Mutation SNP A A G TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr19:54754843A>G ENST00000450632.1 - 13 1869 c.1792T>C c.(1792-1794)Tcc>Ccc p.S598P LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 423 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGTGGGGAGGCCTGGGGG 0.607000 3 44 0 0 1 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 4 56 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23232562 23232562 + Silent SNP T T C TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr1:23232562T>C ENST00000400191.3 + 10 1866 c.1848T>C c.(1846-1848)atT>atC p.I616I EPHB2_ENST00000374627.1_Silent_p.I611I|EPHB2_ENST00000374630.3_Silent_p.I616I|EPHB2_ENST00000374632.3_Silent_p.I617I NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 616 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CCAAGGAAATTGACATCTCCT 0.542000 8 19 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 6 53 3.59834e-05 3.76969e-05 1 1 0 MAGEB6 158809 broad.mit.edu 37 X 26213093 26213093 + Missense_Mutation SNP C C T TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chrX:26213093C>T ENST00000379034.1 + 2 1279 c.1130C>T c.(1129-1131)gCc>gTc p.A377V NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 377 MAGE. p.A377D(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 CGTGTTTTGGCCGACAGCAGT 0.512000 4 128 0 0 1 0 0 DDI2 84301 broad.mit.edu 37 1 15956918 15956918 + Missense_Mutation SNP G G A TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr1:15956918G>A ENST00000480945.1 + 3 538 c.367G>A c.(367-369)Gga>Aga p.G123R NM_032341.4 NP_115717.3 Q5TDH0 DDI2_HUMAN DNA-damage inducible 1 homolog 2 (S. cerevisiae) 123 proteolysis aspartic-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1) 17 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) CTCATCTCCTGGAGAAATAAC 0.537000 24 31 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 5 69 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12735149 12735149 + Silent SNP C C T TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chrX:12735149C>T ENST00000380682.1 + 15 3077 c.2571C>T c.(2569-2571)gcC>gcT p.A857A NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 857 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 CCACCAGCGCCGAAGGCAAGT 0.567000 17 83 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 4 39 0 0 1 0 0 EGF 1950 broad.mit.edu 37 4 110925779 110925779 + Splice_Site SNP G G C TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr4:110925779G>C ENST00000265171.5 + 22 3736 c.e22+1 EGF_ENST00000509793.1_Splice_Site|EGF_ENST00000503392.1_Splice_Site NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) TCAACCTTGGGTAATGTGACC 0.438000 5 49 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27700844 27700844 + Silent SNP T T C TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr10:27700844T>C ENST00000438700.3 - 2 1221 c.1104A>G c.(1102-1104)acA>acG p.T368T NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 368 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 TGGAAAGCGATGTAAAGTGGA 0.358000 25 27 0 0 1 0 0 LOC100505782 100505782 broad.mit.edu 37 17 39566130 39566130 + RNA SNP C C A TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr17:39566130C>A ENST00000432258.1 + 0 1544 AC003958.2_ENST00000430006.1_RNA TCATCTGCAGCCAATTTGGCA 0.493000 3 7 0.150653 0.150653 1 1 0 MUC15 143662 broad.mit.edu 37 11 26582751 26582751 + Missense_Mutation SNP G G A TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr11:26582751G>A ENST00000436318.2 - 4 1080 c.947C>T c.(946-948)cCg>cTg p.P316L MUC15_ENST00000455601.2_Missense_Mutation_p.P289L|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000529242.1_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.P266L|MUC15_ENST00000529533.1_Missense_Mutation_p.P316L|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.P266L|ANO3_ENST00000525139.1_Intron Q8N387 MUC15_HUMAN mucin 15, cell surface associated 289 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 ATAAGGTTCCGGTGCATTGTC 0.378000 8 28 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803724 142803724 + RNA SNP G G A TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr1:142803724G>A ENST00000423385.1 - 0 1241 ataacctactgttaaataaac 0.378000 3 6 0 0 1 0 0 CHST2 9435 broad.mit.edu 37 3 142840567 142840567 + Frame_Shift_Del DEL A A - TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr3:142840567delA ENST00000309575.3 + 2 2293 c.909delA c.(907-909)atfs p.I303fs NM_004267.4 NP_004258.2 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 303 inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 CACTAGTCATAAAGGGTGTGC 0.657 2 4 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560458 147560466 + In_Frame_Del DEL GGCGGCGGC GGCGGCGGC - rs67907220 TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr4:147560458_147560466delGGCGGCGGC ENST00000281321.3 + 1 414_422 c.166_174delGGCGGCGGC c.(166-174)del p.GGG65del AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 65 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) CGCTggtggtggcggcggcggcggcggcg 0.761 10 5 --- --- --- --- PLEKHG4B 153478 broad.mit.edu 37 5 140562 140563 + Frame_Shift_Ins INS - - C TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr5:140562_140563insC ENST00000283426.6 + 1 190_191 c.140_141insC c.(139-141)gccfs p.A47fs NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 47 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) GAAACCTCTGGCCCCCGGGGAG 0.673 2 4 --- --- --- --- ARID1B 57492 broad.mit.edu 37 6 157100396 157100397 + In_Frame_Ins INS - - CGC TCGA-SR-A6MZ-01A-11D-A35I-08 TCGA-SR-A6MZ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c5531-bff1-4ac6-93d7-a5561cdd00c8 8fe2059d-3e5b-4c9b-92aa-08e08a05b61b g.chr6:157100396_157100397insCGC ENST00000346085.5 + 1 1334_1335 c.1333_1334insCGC c.(1333-1335)gcc>CGCgcc p.444_445insR ARID1B_ENST00000275248.4_In_Frame_Ins_p.386_387insR|ARID1B_ENST00000367148.1_In_Frame_Ins_p.444_445insR|ARID1B_ENST00000350026.5_In_Frame_Ins_p.444_445insR NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 444 Ala-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity p.P392_S393insP(1) NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CAGCCCCAGCGCGCCGCCGCCG 0.787 4 9 --- --- --- ---