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 LOC645752 645752 broad.mit.edu 37 15 78213945 78213945 + RNA SNP T T C TCGA-XF-AAN8-01A-11D-A42E-08 TCGA-XF-AAN8-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 149cff48-9318-46f3-9cae-2258bf2e592d 37b82f2a-acca-4974-9e23-36d71784878e g.chr15:78213945T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCTTTTCCAATGTGAGGATGT 0.478000 7 85 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131186732 131186732 + Missense_Mutation SNP C C T rs61731764 byFrequency TCGA-XF-AAN8-01A-11D-A42E-08 TCGA-XF-AAN8-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 149cff48-9318-46f3-9cae-2258bf2e592d 37b82f2a-acca-4974-9e23-36d71784878e g.chr6:131186732C>T ENST00000337057.3 - 17 2954 c.2773G>A c.(2773-2775)Gca>Aca p.A925T EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.A303T|EPB41L2_ENST00000531410.1_Missense_Mutation_p.A46T|EPB41L2_ENST00000528282.1_Missense_Mutation_p.A667T|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000445890.2_Missense_Mutation_p.A667T|EPB41L2_ENST00000527411.1_Missense_Mutation_p.A855T|EPB41L2_ENST00000525193.1_Missense_Mutation_p.A626T|EPB41L2_ENST00000368128.2_Missense_Mutation_p.A925T|EPB41L2_ENST00000527659.1_Missense_Mutation_p.A731T|EPB41L2_ENST00000529208.1_Missense_Mutation_p.A855T|EPB41L2_ENST00000530481.1_Missense_Mutation_p.A772T|EPB41L2_ENST00000392427.3_Intron NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 925 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) ATGGTTTGTGCGGTCAGTAAC 0.458000 4 93 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-XF-AAN8-01A-11D-A42E-08 TCGA-XF-AAN8-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 149cff48-9318-46f3-9cae-2258bf2e592d 37b82f2a-acca-4974-9e23-36d71784878e g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 3 38 0 0 1 0 0 PAX2 5076 broad.mit.edu 37 10 102510501 102510501 + Missense_Mutation SNP C C A TCGA-XF-AAN8-01A-11D-A42E-08 TCGA-XF-AAN8-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 149cff48-9318-46f3-9cae-2258bf2e592d 37b82f2a-acca-4974-9e23-36d71784878e g.chr10:102510501C>A ENST00000370296.2 + 3 813 c.263C>A c.(262-264)cCc>cAc p.P88H PAX2_ENST00000556085.1_Missense_Mutation_p.P87H|PAX2_ENST00000361791.3_Missense_Mutation_p.P88H|PAX2_ENST00000355243.3_Missense_Mutation_p.P88H|PAX2_ENST00000428433.1_Missense_Mutation_p.P88H|PAX2_ENST00000553492.1_Intron Q02962 PAX2_HUMAN paired box 2 88 Paired. anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) GGCTCCAAGCCCAAAGTGGCG 0.627000 3 67 0.004672 0.00491789 1 1 0 TGFBI 7045 broad.mit.edu 37 5 135390519 135390519 + Missense_Mutation SNP G G A TCGA-XF-AAN8-01A-11D-A42E-08 TCGA-XF-AAN8-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 149cff48-9318-46f3-9cae-2258bf2e592d 37b82f2a-acca-4974-9e23-36d71784878e g.chr5:135390519G>A ENST00000442011.2 + 10 1540 c.1379G>A c.(1378-1380)gGc>gAc p.G460D TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 460 FAS1 3. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding p.G460D(1) breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ACTCTGGGCGGCAAAAAACTG 0.423000 4 189 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-XF-AAN8-01A-11D-A42E-08 TCGA-XF-AAN8-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 149cff48-9318-46f3-9cae-2258bf2e592d 37b82f2a-acca-4974-9e23-36d71784878e g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 3 12 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-XF-AAN8-01A-11D-A42E-08 TCGA-XF-AAN8-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 149cff48-9318-46f3-9cae-2258bf2e592d 37b82f2a-acca-4974-9e23-36d71784878e g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 3 81 0 0 1 0 0 SMURF2 64750 broad.mit.edu 37 17 62568009 62568009 + Missense_Mutation SNP G G A TCGA-XF-AAN8-01A-11D-A42E-08 TCGA-XF-AAN8-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 149cff48-9318-46f3-9cae-2258bf2e592d 37b82f2a-acca-4974-9e23-36d71784878e g.chr17:62568009G>A ENST00000262435.9 - 10 1110 c.923C>T c.(922-924)aCg>aTg p.T308M SMURF2_ENST00000578200.1_Intron NM_022739.3 NP_073576.1 Q9HAU4 SMUF2_HUMAN SMAD specific E3 ubiquitin protein ligase 2 308 WW 3. BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex identical protein binding|SMAD binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4) 22 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) GCCTGTTGCCGTATTACGGAT 0.378000 3 31 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-XF-AAN8-01A-11D-A42E-08 TCGA-XF-AAN8-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 149cff48-9318-46f3-9cae-2258bf2e592d 37b82f2a-acca-4974-9e23-36d71784878e g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 4 43 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-XF-AAN8-01A-11D-A42E-08 TCGA-XF-AAN8-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 149cff48-9318-46f3-9cae-2258bf2e592d 37b82f2a-acca-4974-9e23-36d71784878e g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 3 44 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70954659 70954659 + Silent SNP T T C TCGA-XF-AAN8-01A-11D-A42E-08 TCGA-XF-AAN8-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 149cff48-9318-46f3-9cae-2258bf2e592d 37b82f2a-acca-4974-9e23-36d71784878e g.chr16:70954659T>C ENST00000393567.2 - 46 7770 c.7620A>G c.(7618-7620)cgA>cgG p.R2540R NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2540 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) cctccagggctcgcagcttct 0.667000 4 7 0 0 1 0 0 LILRB4 11006 broad.mit.edu 37 19 55179342 55179342 + Missense_Mutation SNP C C T TCGA-XF-AAN8-01A-11D-A42E-08 TCGA-XF-AAN8-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 149cff48-9318-46f3-9cae-2258bf2e592d 37b82f2a-acca-4974-9e23-36d71784878e g.chr19:55179342C>T ENST00000391736.1 + 14 1534 c.1219C>T c.(1219-1221)Ccc>Tcc p.P407S LILRB4_ENST00000391734.3_Missense_Mutation_p.P354S|LILRB4_ENST00000270452.2_Missense_Mutation_p.P407S|LILRB4_ENST00000391733.3_Missense_Mutation_p.P408S|LILRB4_ENST00000430952.2_Missense_Mutation_p.P406S NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 407 integral to membrane|plasma membrane antigen binding|receptor activity p.P407S(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) ATCTGAAGCCCCCCAGGATGT 0.647000 4 44 0 0 1 0 0 RP11-597A11.1 0 broad.mit.edu 37 14 20086237 20086237 + RNA DEL T T - TCGA-XF-AAN8-01A-11D-A42E-08 TCGA-XF-AAN8-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 149cff48-9318-46f3-9cae-2258bf2e592d 37b82f2a-acca-4974-9e23-36d71784878e g.chr14:20086237delT ENST00000548261.1 + 0 51 GGTGTGTGTGTGGGGGGGTAT 0.388 4 3 --- --- --- --- LILRB4 11006 broad.mit.edu 37 19 55179244 55179244 + Splice_Site DEL G G - TCGA-XF-AAN8-01A-11D-A42E-08 TCGA-XF-AAN8-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 149cff48-9318-46f3-9cae-2258bf2e592d 37b82f2a-acca-4974-9e23-36d71784878e g.chr19:55179244delG ENST00000391736.1 + 13 1515 c.1200delG c.(1198-1200)gag>ga p.E400fs LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000270452.2_Splice_Site_p.E400fs|LILRB4_ENST00000430952.2_Splice_Site_p.E399fs|LILRB4_ENST00000391733.3_Splice_Site_p.E401fs NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 400 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) TGGACACTGAGGTGAGTCCTT 0.617 9 17 --- --- --- --- FAM83D 81610 broad.mit.edu 37 20 37555322 37555323 + In_Frame_Ins INS - - GCG TCGA-XF-AAN8-01A-11D-A42E-08 TCGA-XF-AAN8-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 149cff48-9318-46f3-9cae-2258bf2e592d 37b82f2a-acca-4974-9e23-36d71784878e g.chr20:37555322_37555323insGCG ENST00000217429.4 + 1 368_369 c.327_328insGCG c.(328-330)gcg>GCGgcg p.110_110A>AA NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 80 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) GAGAGGAGGGCgcggcggcggc 0.718 4 5 --- --- --- ---