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 F5 2153 broad.mit.edu 37 1 169511343 169511343 + Missense_Mutation SNP C C A TCGA-J4-A67T-01A-11D-A30X-08 TCGA-J4-A67T-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb55b533-2220-4d8f-acd7-7ac806c1d861 cb7197cc-fc88-47ec-918b-d942f90df5cf g.chr1:169511343C>A ENST00000367796.3 - 13 3201 c.3000G>T c.(2998-3000)caG>caT p.Q1000H F5_ENST00000367797.3_Missense_Mutation_p.Q995H P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 995 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GGTGGCCACTCTGCTTTCCAG 0.468 34 130 --- --- --- --- PTH2R 5746 broad.mit.edu 37 2 209307106 209307106 + Silent SNP C C T TCGA-J4-A67T-01A-11D-A30X-08 TCGA-J4-A67T-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb55b533-2220-4d8f-acd7-7ac806c1d861 cb7197cc-fc88-47ec-918b-d942f90df5cf g.chr2:209307106C>T ENST00000272847.2 + 5 642 c.429C>T c.(427-429)cgC>cgT p.R143R PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 143 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) TCTTTGAACGCCTCTATGTAA 0.398 18 116 --- --- --- --- DPPA4 55211 broad.mit.edu 37 3 109050826 109050826 + Silent SNP C C T TCGA-J4-A67T-01A-11D-A30X-08 TCGA-J4-A67T-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb55b533-2220-4d8f-acd7-7ac806c1d861 cb7197cc-fc88-47ec-918b-d942f90df5cf g.chr3:109050826C>T ENST00000335658.6 - 3 285 c.231G>A c.(229-231)aaG>aaA p.K77K DPPA4_ENST00000478791.1_5'UTR NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 77 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 TTGGTATCTTCTTCTGAGGTC 0.463 7 134 --- --- --- --- COL25A1 84570 broad.mit.edu 37 4 109767343 109767343 + Silent SNP G G A TCGA-J4-A67T-01A-11D-A30X-08 TCGA-J4-A67T-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb55b533-2220-4d8f-acd7-7ac806c1d861 cb7197cc-fc88-47ec-918b-d942f90df5cf g.chr4:109767343G>A ENST00000399132.1 - 28 1997 c.1467C>T c.(1465-1467)gaC>gaT p.D489D COL25A1_ENST00000399127.1_Silent_p.D462D|COL25A1_ENST00000399126.1_Silent_p.D489D NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 489 Collagen-like 6. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) TCATACCTGGGTCCCCCATGT 0.388 23 69 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32403259 32403259 + Missense_Mutation SNP T T A TCGA-J4-A67T-01A-11D-A30X-08 TCGA-J4-A67T-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb55b533-2220-4d8f-acd7-7ac806c1d861 cb7197cc-fc88-47ec-918b-d942f90df5cf g.chr5:32403259T>A ENST00000265069.8 - 8 1570 c.1468A>T c.(1468-1470)Aca>Tca p.T490S NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 490 multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) GCCATATTTGTAGGCACTGCT 0.403 15 83 --- --- --- --- PCDHB2 56133 broad.mit.edu 37 5 140474539 140474539 + Silent SNP G G T TCGA-J4-A67T-01A-11D-A30X-08 TCGA-J4-A67T-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb55b533-2220-4d8f-acd7-7ac806c1d861 cb7197cc-fc88-47ec-918b-d942f90df5cf g.chr5:140474539G>T ENST00000194155.4 + 1 313 c.165G>T c.(163-165)ggG>ggT p.G55G NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 55 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAGACCTGGGGCTGGAGATAG 0.512 4 57 --- --- --- --- TRBV7-4 28594 broad.mit.edu 37 7 142176530 142176530 + RNA SNP A A T TCGA-J4-A67T-01A-11D-A30X-08 TCGA-J4-A67T-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb55b533-2220-4d8f-acd7-7ac806c1d861 cb7197cc-fc88-47ec-918b-d942f90df5cf g.chr7:142176530A>T ENST00000390369.2 - 0 145 ATAAAGGGTTACATGACCCGA 0.542 8 36 --- --- --- --- PPRC1 23082 broad.mit.edu 37 10 103906642 103906642 + Missense_Mutation SNP A A G TCGA-J4-A67T-01A-11D-A30X-08 TCGA-J4-A67T-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb55b533-2220-4d8f-acd7-7ac806c1d861 cb7197cc-fc88-47ec-918b-d942f90df5cf g.chr10:103906642A>G ENST00000278070.2 + 9 3932 c.3893A>G c.(3892-3894)tAt>tGt p.Y1298C PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.Y265C|PPRC1_ENST00000489648.1_Intron NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 1298 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GACCATGACTATTGTGTCCGG 0.577 9 31 --- --- --- --- C10orf91 170393 broad.mit.edu 37 10 134261457 134261457 + Silent SNP C C G TCGA-J4-A67T-01A-11D-A30X-08 TCGA-J4-A67T-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb55b533-2220-4d8f-acd7-7ac806c1d861 cb7197cc-fc88-47ec-918b-d942f90df5cf g.chr10:134261457C>G ENST00000392630.3 + 3 391 c.330C>G c.(328-330)ccC>ccG p.P110P C10orf91_ENST00000321248.2_Silent_p.P110P NM_173541.2 NP_775812.1 Q5T1B1 CJ091_HUMAN chromosome 10 open reading frame 91 110 endometrium(1)|kidney(1)|lung(1)|ovary(2) 5 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162) AGGCAGCTCCCGTGGTAGATC 0.677 8 131 --- --- --- --- ADAMTS20 80070 broad.mit.edu 37 12 43944936 43944936 + Nonsense_Mutation SNP G G A TCGA-J4-A67T-01A-11D-A30X-08 TCGA-J4-A67T-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb55b533-2220-4d8f-acd7-7ac806c1d861 cb7197cc-fc88-47ec-918b-d942f90df5cf g.chr12:43944936G>A ENST00000389420.3 - 2 228 c.229C>T c.(229-231)Cga>Tga p.R77* ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.R77* NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 77 proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TAGTGGGTTCGGAACGGCATG 0.617 24 72 --- --- --- --- MTUS2 23281 broad.mit.edu 37 13 29599579 29599579 + Silent SNP C C T TCGA-J4-A67T-01A-11D-A30X-08 TCGA-J4-A67T-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb55b533-2220-4d8f-acd7-7ac806c1d861 cb7197cc-fc88-47ec-918b-d942f90df5cf g.chr13:29599579C>T ENST00000431530.3 + 1 832 c.774C>T c.(772-774)acC>acT p.T258T NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 248 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 AACCATCTACCTCAGAAAGCA 0.557 5 23 --- --- --- --- LTBP2 4053 broad.mit.edu 37 14 74991895 74991895 + Missense_Mutation SNP C C T TCGA-J4-A67T-01A-11D-A30X-08 TCGA-J4-A67T-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb55b533-2220-4d8f-acd7-7ac806c1d861 cb7197cc-fc88-47ec-918b-d942f90df5cf g.chr14:74991895C>T ENST00000261978.4 - 15 2848 c.2462G>A c.(2461-2463)gGg>gAg p.G821E LTBP2_ENST00000556690.1_Missense_Mutation_p.G821E NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 821 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CTCTGCAATCCCCTGTTCAGG 0.612 11 75 --- --- --- --- ZNF420 147923 broad.mit.edu 37 19 37580021 37580021 + Translation_Start_Site SNP A A G TCGA-J4-A67T-01A-11D-A30X-08 TCGA-J4-A67T-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb55b533-2220-4d8f-acd7-7ac806c1d861 cb7197cc-fc88-47ec-918b-d942f90df5cf g.chr19:37580021A>G ENST00000337995.3 + 3 216 c.1A>G c.(1-3)Atg>Gtg p.M1V ZNF420_ENST00000304239.7_Start_Codon_SNP_p.M1V NM_144689.3 NP_653290.2 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCTAAAAACCATGGCTCGGGT 0.423 3 59 --- --- --- --- ROBO1 6091 broad.mit.edu 37 3 78666863 78666863 + Frame_Shift_Del DEL C C - TCGA-J4-A67T-01A-11D-A30X-08 TCGA-J4-A67T-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb55b533-2220-4d8f-acd7-7ac806c1d861 cb7197cc-fc88-47ec-918b-d942f90df5cf g.chr3:78666863delC ENST00000436010.2 - 25 5084 c.4087delG c.(4087-4089)gacfs p.D1363fs ROBO1_ENST00000467549.1_Frame_Shift_Del_p.D1302fs|ROBO1_ENST00000495273.1_Frame_Shift_Del_p.D1357fs|ROBO1_ENST00000464233.1_Frame_Shift_Del_p.D1402fs Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1402 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TGGGCAAAGTCAGCATCAGTG 0.552 9 41 --- --- --- ---