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 chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ACOT2 0 genome.wustl.edu 37 14 74042189 74042189 + Missense_Mutation SNP A A G TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 14 74042189 74042189 A G SNP ACOT2 ENST00000238651 human ensembl 69_37n +1 known missense c.1424 p.H475R 0.000 pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors ACOT2 HGNC ENSG00000119673 9 0 0.00 8 7 46.67 - - - ACSS2 0 genome.wustl.edu 37 20 33462890 33462890 + RNA SNP G G A TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 20 33462890 33462890 G A SNP ACSS2 ENST00000461051 human ensembl 69_37n +1 known rna NULL NULL 0.012 - - - no_errors ACSS2 HGNC ENSG00000131069 34 0 0.00 31 15 32.61 - - - ACTG1 0 genome.wustl.edu 37 17 79479050 79479050 + Missense_Mutation SNP T T C TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 17 79479050 79479050 T C SNP ACTG1 ENST00000331925 human ensembl 69_37n -1 known missense c.242 p.D81G 1.000 pfam_Actin-like,smart_Actin-like,prints_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTG1 HGNC ENSG00000184009 37 0 0.00 60 16 21.05 - - - ATF5 0 genome.wustl.edu 37 19 50436280 50436280 + Missense_Mutation SNP G G C TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 19 50436280 50436280 G C SNP ATF5 ENST00000423777 human ensembl 69_37n +1 known missense c.780 p.E260D 1.000 pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP - no_errors ATF5 HGNC ENSG00000169136 46 0 0.00 42 14 25.00 - - - ATL1 0 genome.wustl.edu 37 14 51057793 51057793 + Missense_Mutation SNP G G T TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 14 51057793 51057793 G T SNP ATL1 ENST00000357032 human ensembl 69_37n +1 known missense c.417 p.K139N 1.000 pfam_Guanylate-bd_N pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors ATL1 HGNC ENSG00000198513 30 0 0.00 28 4 12.50 - - - AURKAIP1 0 genome.wustl.edu 37 1 1310127 1310127 + Missense_Mutation SNP C C G TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 1 1310127 1310127 C G SNP AURKAIP1 ENST00000321751 human ensembl 69_37n -1 known missense c.10 p.G4R 0.055 NULL pfam_DUF1713_mit - no_errors AURKAIP1 HGNC ENSG00000175756 51 0 0.00 60 11 15.49 - - - CDH23 0 genome.wustl.edu 37 10 73491898 73491898 + Silent SNP G G A TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 10 73491898 73491898 G A SNP CDH23 ENST00000224721 human ensembl 69_37n +1 known silent c.3879 p.P1293 0.071 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH23 HGNC ENSG00000107736 29 0 0.00 26 14 34.15 - - - COL4A4 0 genome.wustl.edu 37 2 227945200 227945200 + Missense_Mutation SNP G G A TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 2 227945200 227945200 G A SNP COL4A4 ENST00000396625 human ensembl 69_37n -1 known missense c.1762 p.R588W 0.008 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 28 0 0.00 22 11 33.33 - - - DACT2 0 genome.wustl.edu 37 6 168708328 168708328 + Silent SNP G G A TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 6 168708328 168708328 G A SNP DACT2 ENST00000366795 human ensembl 69_37n -1 known silent c.2109 p.D703 0.005 NULL NULL - no_errors DACT2 HGNC ENSG00000164488 40 0 0.00 21 20 48.78 - - - DBH 0 genome.wustl.edu 37 9 136505083 136505083 + Missense_Mutation SNP G G C TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 9 136505083 136505083 G C SNP DBH ENST00000393056 human ensembl 69_37n +1 known missense c.455 p.G152A 0.978 pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors DBH HGNC ENSG00000123454 20 0 0.00 16 11 40.74 - - - DDI2 0 genome.wustl.edu 37 1 15956963 15956963 + Missense_Mutation SNP C C G TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 1 15956963 15956963 C G SNP DDI2 ENST00000480945 human ensembl 69_37n +1 known missense c.412 p.L138V 1.000 NULL pfam_Peptidase_aspartic_euk-pred,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,pfam_Ubiquitin,superfamily_Peptidase_aspartic,pfscan_Ubiquitin_supergroup - no_errors DDI2 HGNC ENSG00000197312 32 0 0.00 16 12 42.86 - - - DIP2A 0 genome.wustl.edu 37 21 47966833 47966833 + Silent SNP C C T TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 21 47966833 47966833 C T SNP DIP2A ENST00000318711 human ensembl 69_37n +1 known silent c.2403 p.N801 0.569 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 36 0 0.00 24 7 22.58 - - - DNM1P46 0 genome.wustl.edu 37 15 100340002 100340002 + RNA SNP C C T TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 15 100340002 100340002 C T SNP DNM1P46 ENST00000341853 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors DNM1P46 HGNC ENSG00000182397 29 0 0.00 28 5 15.15 - - - DNM2 0 genome.wustl.edu 37 19 10935731 10935731 + Splice_Site SNP A A T TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 19 10935731 10935731 A T SNP DNM2 ENST00000314646 human ensembl 69_37n +1 known splice_site c.1894-2 e18-2 1.000 - - - no_errors DNM2 HGNC ENSG00000079805 28 0 0 30 11 26.83 - - - DNMT1 0 genome.wustl.edu 37 19 10252733 10252733 + Missense_Mutation SNP C C A TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 19 10252733 10252733 C A SNP DNMT1 ENST00000359526 human ensembl 69_37n -1 known missense c.3280 p.G1094C 0.313 pirsf_DNA_C5-MeTrfase_1_euk,pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 30 0 0.00 20 8 28.57 - - - EEF1G 0 genome.wustl.edu 37 11 62340150 62340150 + Missense_Mutation SNP C C T TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 11 62340150 62340150 C T SNP EEF1G ENST00000378019 human ensembl 69_37n -1 known missense c.227 p.G76E 1.000 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Transl_elong_EF1_G_con,pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Transl_elong_EF1_G_con,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,pfscan_Transl_elong_EF1_G_con - no_errors EEF1G HGNC ENSG00000254772 29 0 0.00 27 13 32.50 - - - EIF2B1 0 genome.wustl.edu 37 12 124111642 124111642 + Missense_Mutation SNP G G C TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 12 124111642 124111642 G C SNP EIF2B1 ENST00000424014 human ensembl 69_37n -1 known missense c.431 p.A144G 1.000 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B1 HGNC ENSG00000111361 29 0 0.00 26 8 23.53 - - - FAM5B 0 genome.wustl.edu 37 1 177250856 177250857 + RNA DEL AC AC - TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 1 177250856 177250857 AC - DEL FAM5B ENST00000478325 human ensembl 69_37n +1 known rna NULL NULL 0.000:0.000 - - - no_errors FAM5B HGNC ENSG00000198797 32 0 0.00 51 6 10.34 - - - FLJ26850 0 genome.wustl.edu 37 19 50554082 50554082 + RNA SNP C C T TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 19 50554082 50554082 C T SNP FLJ26850 ENST00000527209 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors CTD-2126E3.1 Clone_based_vega_gene ENSG00000204666 42 0 0.00 41 10 19.23 - - - FUZ 0 genome.wustl.edu 37 19 50315565 50315565 + Silent SNP C C T TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 19 50315565 50315565 C T SNP FUZ ENST00000313777 human ensembl 69_37n -1 known silent c.261 p.E87 0.996 NULL NULL - no_errors FUZ HGNC ENSG00000010361 27 0 0.00 20 3 13.04 - - - GAB3 0 genome.wustl.edu 37 X 153940823 153940823 + Silent SNP G G A TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 X 153940823 153940823 G A SNP GAB3 ENST00000424127 human ensembl 69_37n -1 known silent c.750 p.S250 0.145 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB3 HGNC ENSG00000160219 15 0 0.00 14 6 30.00 - - - GPC5 0 genome.wustl.edu 37 13 92345527 92345527 + Missense_Mutation SNP G G T TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 13 92345527 92345527 G T SNP GPC5 ENST00000377067 human ensembl 69_37n +1 known missense c.412 p.A138S 0.996 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 70 0 0.00 36 4 10.00 - - - HLA-P 0 genome.wustl.edu 37 6 29765145 29765145 + RNA SNP C C T TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 6 29765145 29765145 C T SNP HLA-P ENST00000457107 human ensembl 69_37n +1 known rna NULL NULL 0.005 - - - no_errors HLA-P HGNC ENSG00000181126 12 0 0.00 16 11 40.74 - - - HTR3D 0 genome.wustl.edu 37 3 183752970 183752970 + Missense_Mutation SNP C C T TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 3 183752970 183752970 C T SNP HTR3D ENST00000382489 human ensembl 69_37n +1 known missense c.244 p.H82Y 0.001 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd - no_errors HTR3D HGNC ENSG00000186090 60 0 0.00 87 14 13.86 - - - KIAA0040 0 genome.wustl.edu 37 1 175129996 175129996 + Missense_Mutation SNP A A C TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 1 175129996 175129996 A C SNP KIAA0040 ENST00000423313 human ensembl 69_37n -1 known missense c.154 p.W52G 1.000 NULL NULL - no_errors KIAA0040 HGNC ENSG00000235750 71 0 0.00 96 15 13.51 - - - KIAA0195 0 genome.wustl.edu 37 17 73487872 73487872 + Missense_Mutation SNP C C T TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 17 73487872 73487872 C T SNP KIAA0195 ENST00000314256 human ensembl 69_37n +1 known missense c.1487 p.P496L 0.418 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 40 0 0.00 37 10 21.28 - - - MAP3K1 0 genome.wustl.edu 37 5 56168490 56168491 + Frame_Shift_Ins INS - - A TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 5 56168490 56168491 - A INS MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_ins c.1446_1447 p.R482fs 0.994:1.000 pfscan_Znf_RING pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 32 0 0.00 39 11 22.00 - - - MGC21881 0 genome.wustl.edu 37 9 66554428 66554428 + RNA SNP G G A TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 9 66554428 66554428 G A SNP MGC21881 ENST00000305709 human ensembl 69_37n +1 known rna NULL NULL 0.261 - - - no_errors RP11-262H14.4 Clone_based_vega_gene ENSG00000170161 51 0 0.00 68 33 32.67 - - - MIR3689C 0 genome.wustl.edu 37 9 137741177 137741177 + RNA SNP G G A TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 9 137741177 137741177 G A SNP MIR3689C ENST00000581239 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors MIR3689C HGNC ENSG00000264744 23 0 0.00 15 4 21.05 - - - MLL3 0 genome.wustl.edu 37 7 151962231 151962231 + Missense_Mutation SNP C C G TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 7 151962231 151962231 C G SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known missense c.1076 p.C359S 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger,pfscan_Znf_RING pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 56 0 0.00 68 16 19.05 - - - MRGPRF 0 genome.wustl.edu 37 11 68773560 68773560 + Missense_Mutation SNP A A C TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 11 68773560 68773560 A C SNP MRGPRF ENST00000309099 human ensembl 69_37n -1 known missense c.218 p.I73S 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors MRGPRF HGNC ENSG00000172935 34 0 0.00 76 9 10.59 - - - MRPS16 0 genome.wustl.edu 37 10 75011558 75011558 + Silent SNP G G A TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 10 75011558 75011558 G A SNP MRPS16 ENST00000372945 human ensembl 69_37n -1 known silent c.237 p.C79 0.957 pfam_Ribosomal_S16,superfamily_Ribosomal_S16_dom,tigrfam_Ribosomal_S16 pfam_Ribosomal_S16,superfamily_Ribosomal_S16_dom,tigrfam_Ribosomal_S16 - no_errors MRPS16 HGNC ENSG00000182180 42 0 0.00 38 16 29.63 - - - MUC4 0 genome.wustl.edu 37 3 195505918 195505918 + Missense_Mutation SNP G G T TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 3 195505918 195505918 G T SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.12533 p.P4178H 0.150 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 44 0 0.00 60 8 11.76 - - - NFATC4 0 genome.wustl.edu 37 14 24846879 24846879 + Missense_Mutation SNP C C T TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 14 24846879 24846879 C T SNP NFATC4 ENST00000556279 human ensembl 69_37n +1 known missense c.2773 p.P925S 1.000 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 36 0 0.00 17 11 39.29 - - - NOL4 0 genome.wustl.edu 37 18 31685119 31685120 + Frame_Shift_Del DEL TG TG - TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 18 31685119 31685120 TG - DEL NOL4 ENST00000261592 human ensembl 69_37n -1 known frame_shift_del c.420_419 p.S140fs 1.000:1.000 NULL NULL - no_errors NOL4 HGNC ENSG00000101746 26 0 0.00 20 7 25.00 - - - OR2B6 0 genome.wustl.edu 37 6 27925280 27925280 + Missense_Mutation SNP A A G TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 6 27925280 27925280 A G SNP OR2B6 ENST00000244623 human ensembl 69_37n +1 known missense c.262 p.I88V 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2B6 HGNC ENSG00000124657 54 0 0.00 27 12 30.77 - - - PAGE5 0 genome.wustl.edu 37 X 55248225 55248225 + Missense_Mutation SNP G G C TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 X 55248225 55248225 G C SNP PAGE5 ENST00000289619 human ensembl 69_37n +1 known missense c.167 p.R56P 0.000 pfam_GAGE pfam_GAGE - no_errors PAGE5 HGNC ENSG00000158639 42 0 0.00 53 13 19.70 - - - PIK3CA 0 genome.wustl.edu 37 3 178952074 178952074 + Missense_Mutation SNP G G C TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 3 178952074 178952074 G C SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3129 p.M1043I 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 22 0 0.00 5 14 73.68 - - - PIP5KL1 0 genome.wustl.edu 37 9 130688041 130688041 + RNA SNP C C G TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 9 130688041 130688041 C G SNP PIP5KL1 ENST00000476624 human ensembl 69_37n -1 known rna NULL NULL 0.003 - - - no_errors PIP5KL1 HGNC ENSG00000167103 28 0 0.00 14 8 36.36 - - - PKD1 0 genome.wustl.edu 37 16 2142112 2142112 + Missense_Mutation SNP C C T TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 16 2142112 2142112 C T SNP PKD1 ENST00000262304 human ensembl 69_37n -1 known missense c.11347 p.V3783I 0.028 pfam_PKD1_2_channel pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,prints_PKD_1,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 33 0 0.00 27 11 28.95 - - - PRDX1 0 genome.wustl.edu 37 1 45984654 45984654 + Missense_Mutation SNP A A G TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 1 45984654 45984654 A G SNP PRDX1 ENST00000262746 human ensembl 69_37n -1 known missense c.62 p.M21T 1.000 pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold - no_errors PRDX1 HGNC ENSG00000117450 58 0 0.00 42 13 23.64 - - - RBM10 0 genome.wustl.edu 37 X 47028833 47028833 + Missense_Mutation SNP G G A TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 X 47028833 47028833 G A SNP RBM10 ENST00000377604 human ensembl 69_37n +1 known missense c.137 p.R46H 0.991 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 73 0 0.00 43 30 41.10 - - - RBM39 0 genome.wustl.edu 37 20 34297186 34297187 + Frame_Shift_Del DEL AA AA - TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 20 34297186 34297187 AA - DEL RBM39 ENST00000253363 human ensembl 69_37n -1 known frame_shift_del c.1185_1184 p.F395fs 1.000:1.000 tigrfam_CC1_SF pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_CC1_SF - no_errors RBM39 HGNC ENSG00000131051 15 0 0.00 32 11 25.58 - - - SGSM1 0 genome.wustl.edu 37 22 25264385 25264385 + Missense_Mutation SNP T T C TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 22 25264385 25264385 T C SNP SGSM1 ENST00000400359 human ensembl 69_37n +1 known missense c.1037 p.I346T 1.000 NULL pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 33 0 0.00 25 15 37.50 - - - SH2D2A 0 genome.wustl.edu 37 1 156783649 156783649 + Silent SNP G G T TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 1 156783649 156783649 G T SNP SH2D2A ENST00000392306 human ensembl 69_37n -1 known silent c.588 p.L196 0.329 pfscan_SH2 pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D2A HGNC ENSG00000027869 19 0 0.00 17 5 22.73 - - - SH2D2A 0 genome.wustl.edu 37 1 156783650 156783650 + Missense_Mutation SNP A A C TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 1 156783650 156783650 A C SNP SH2D2A ENST00000392306 human ensembl 69_37n -1 known missense c.587 p.L196R 0.900 pfscan_SH2 pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D2A HGNC ENSG00000027869 19 0 0.00 17 5 22.73 - - - SHANK2 0 genome.wustl.edu 37 11 70336336 70336336 + Missense_Mutation SNP G G C TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 11 70336336 70336336 G C SNP SHANK2 ENST00000357171 human ensembl 69_37n -1 known missense c.832 p.Q278E 0.005 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHANK2 HGNC ENSG00000162105 28 0 0.00 78 15 16.13 - - - SHANK2 0 genome.wustl.edu 37 11 70336386 70336386 + Nonsense_Mutation SNP G G C TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 11 70336386 70336386 G C SNP SHANK2 ENST00000338508 human ensembl 69_37n -1 known nonsense c.2549 p.S850* 1.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 40 0 0.00 105 24 18.60 - - - SLC12A4 0 genome.wustl.edu 37 16 67979749 67979749 + Missense_Mutation SNP G G T TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 16 67979749 67979749 G T SNP SLC12A4 ENST00000422611 human ensembl 69_37n -1 known missense c.2771 p.T924N 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A4 HGNC ENSG00000124067 44 0 0.00 41 13 23.64 - - - SLC6A13 0 genome.wustl.edu 37 12 369124 369124 + Missense_Mutation SNP C C G TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 12 369124 369124 C G SNP SLC6A13 ENST00000343164 human ensembl 69_37n -1 known missense c.95 p.R32P 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2 - no_errors SLC6A13 HGNC ENSG00000010379 67 0 0.00 52 11 17.46 - - - TBC1D8B 0 genome.wustl.edu 37 X 106093309 106093309 + Missense_Mutation SNP A A G TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 X 106093309 106093309 A G SNP TBC1D8B ENST00000357242 human ensembl 69_37n +1 known missense c.1892 p.Q631R 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8B HGNC ENSG00000133138 61 0 0.00 48 12 20.00 - - - THBS1 0 genome.wustl.edu 37 15 39874617 39874619 + In_Frame_Del DEL GAA GAA - TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 15 39874617 39874619 GAA - DEL THBS1 ENST00000260356 human ensembl 69_37n +1 known in_frame_del c.291_293 p.K99in_frame_del 1.000:1.000:1.000 superfamily_ConA-like_lec_gl,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC ENSG00000137801 25 0 0.00 23 10 30.30 - - - TMEM117 0 genome.wustl.edu 37 12 44783123 44783123 + RNA SNP G G A TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 12 44783123 44783123 G A SNP TMEM117 ENST00000546978 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors TMEM117 HGNC ENSG00000139173 26 0 0.00 18 4 18.18 - - - TPMT 0 genome.wustl.edu 37 6 18148076 18148076 + Missense_Mutation SNP C C T TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 6 18148076 18148076 C T SNP TPMT ENST00000309983 human ensembl 69_37n -1 known missense c.211 p.G71R 1.000 pfam_TPMT,pirsf_Thiopurine_S-MeTrfase pfam_TPMT,pirsf_Thiopurine_S-MeTrfase - no_errors TPMT HGNC ENSG00000137364 35 0 0.00 29 31 50.82 - - - TRIM15 0 genome.wustl.edu 37 6 30131731 30131731 + Silent SNP C C T TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 6 30131731 30131731 C T SNP TRIM15 ENST00000376694 human ensembl 69_37n +1 known silent c.270 p.I90 0.802 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM15 HGNC ENSG00000204610 80 0 0.00 33 19 36.54 - - - UBR4 0 genome.wustl.edu 37 1 19474500 19474500 + Missense_Mutation SNP T T C TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 1 19474500 19474500 T C SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known missense c.7616 p.Y2539C 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 30 0 0.00 9 10 52.63 - - - USP36 0 genome.wustl.edu 37 17 76794540 76794540 + Missense_Mutation SNP G G A TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 17 76794540 76794540 G A SNP USP36 ENST00000312010 human ensembl 69_37n -1 known missense c.3334 p.H1112Y 0.991 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP36 HGNC ENSG00000055483 34 0 0.00 50 10 16.67 - - - WDR38 0 genome.wustl.edu 37 9 127619645 127619645 + Silent SNP C C G TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 9 127619645 127619645 C G SNP WDR38 ENST00000373574 human ensembl 69_37n +1 known silent c.771 p.V257 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR38 HGNC ENSG00000136918 27 0 0.00 23 16 41.03 - - - ZNF295 0 genome.wustl.edu 37 21 43414183 43414183 + Frame_Shift_Del DEL T T - TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 21 43414183 43414183 T - DEL ZNF295 ENST00000310826 human ensembl 69_37n -1 known frame_shift_del c.22 p.I8fs 1.000 superfamily_BTB/POZ_fold pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF295 HGNC ENSG00000173276 35 0 0.00 28 17 37.78 - - - ZNF815P 0 genome.wustl.edu 37 7 5886722 5886722 + RNA SNP C C T TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ceb3f6f-e531-4f02-ac2b-67e0c1a58918 dd4257ed-800d-4c1d-99db-37991e1b12c8 7 5886722 5886722 C T SNP ZNF815P ENST00000421890 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors ZNF815P HGNC ENSG00000235944 42 0 0.00 47 20 29.85 - - -