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 AARS 0 genome.wustl.edu 37 16 70296393 70296393 + Silent SNP C C T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 16 70296393 70296393 C T SNP AARS ENST00000261772 human ensembl 69_37n -1 known silent c.1527 p.L509 1.000 pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-synth_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-synth_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc - no_errors AARS HGNC ENSG00000090861 32 0 0.00 21 4 16.00 - - - ACAP1 0 genome.wustl.edu 37 17 7249758 7249758 + Missense_Mutation SNP C C T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 17 7249758 7249758 C T SNP ACAP1 ENST00000158762 human ensembl 69_37n +1 known missense c.955 p.L319F 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP1 HGNC ENSG00000072818 85 0 0.00 103 15 12.71 - - - AGXT2L2 0 genome.wustl.edu 37 5 177656992 177656992 + Missense_Mutation SNP A A T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 5 177656992 177656992 A T SNP AGXT2L2 ENST00000308158 human ensembl 69_37n -1 known missense c.287 p.L96Q 0.998 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AGXT2L2 HGNC ENSG00000175309 40 0 0.00 25 4 13.79 - - - AIFM1 0 genome.wustl.edu 37 X 129299563 129299563 + Missense_Mutation SNP A A C TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee X 129299563 129299563 A C SNP AIFM1 ENST00000287295 human ensembl 69_37n -1 known missense c.68 p.V23G 0.739 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase - no_errors AIFM1 HGNC ENSG00000156709 80 0 0.00 66 12 15.38 - - - ALS2CL 0 genome.wustl.edu 37 3 46729146 46729146 + Missense_Mutation SNP C C A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 3 46729146 46729146 C A SNP ALS2CL ENST00000318962 human ensembl 69_37n -1 known missense c.331 p.V111L 0.862 superfamily_DH-domain pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9 - no_errors ALS2CL HGNC ENSG00000178038 39 0 0.00 26 7 21.21 - - - ANKRD18DP 0 genome.wustl.edu 37 3 197785509 197785509 + RNA SNP G G A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 3 197785509 197785509 G A SNP ANKRD18DP ENST00000335478 human ensembl 69_37n -1 known rna NULL NULL 0.941 - - - no_errors ANKRD18DP HGNC ENSG00000226435 42 0 0.00 31 8 20.51 - - - ARNTL 0 genome.wustl.edu 37 11 13381920 13381920 + Silent SNP C C T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 11 13381920 13381920 C T SNP ARNTL ENST00000403290 human ensembl 69_37n +1 known silent c.408 p.N136 1.000 superfamily_HLH_DNA-bd pfam_PAS_fold,pfam_PAS_fold_3,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_DNA-bd,tigrfam_PAS - no_errors ARNTL HGNC ENSG00000133794 37 0 0.00 18 6 25.00 - - - ASPM 0 genome.wustl.edu 37 1 197112244 197112244 + Missense_Mutation SNP G G C TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 1 197112244 197112244 G C SNP ASPM ENST00000367409 human ensembl 69_37n -1 known missense c.1138 p.Q380E 0.001 NULL pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 28 0 0.00 23 6 20.69 - - - ATOH8 0 genome.wustl.edu 37 2 85999764 85999764 + RNA SNP A A C TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 2 85999764 85999764 A C SNP ATOH8 ENST00000463422 human ensembl 69_37n +1 putative rna NULL NULL 1.000 - - - no_errors ATOH8 HGNC ENSG00000168874 36 0 0.00 19 5 20.83 - - - B3GAT3 0 genome.wustl.edu 37 11 62388132 62388132 + Missense_Mutation SNP C C T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 11 62388132 62388132 C T SNP B3GAT3 ENST00000265471 human ensembl 69_37n -1 known missense c.94 p.D32N 1.000 NULL pfam_Glyco_trans_43 - no_errors B3GAT3 HGNC ENSG00000149541 60 0 0.00 31 8 20.51 - - - BAX 0 genome.wustl.edu 37 19 49459541 49459541 + Nonsense_Mutation SNP G G A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 19 49459541 49459541 G A SNP BAX ENST00000293288 human ensembl 69_37n +1 known nonsense c.320 p.W107* 1.000 pfam_Bcl2_BH,smart_Bcl2_BH,pfscan_Bcl2-like_apoptosis,prints_Bcl2_BH pfam_Bcl2_BH,smart_Bcl2_BH,pfscan_Bcl2-like_apoptosis,prints_Bcl2_BH - no_errors BAX HGNC ENSG00000087088 44 0 0.00 23 5 17.86 - - - BPIFB3 0 genome.wustl.edu 37 20 31647749 31647749 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 20 31647749 31647749 G T SNP BPIFB3 ENST00000375494 human ensembl 69_37n +1 known missense c.439 p.V147L 0.979 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB3 HGNC ENSG00000186190 33 0 0.00 21 8 27.59 - - - BTF3 0 genome.wustl.edu 37 5 72798898 72798898 + Missense_Mutation SNP G G C TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 5 72798898 72798898 G C SNP BTF3 ENST00000380591 human ensembl 69_37n +1 known missense c.473 p.S158T 1.000 NULL pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors BTF3 HGNC ENSG00000145741 43 0 0.00 24 8 25.00 - - - C10orf116 0 genome.wustl.edu 37 10 88728307 88728307 + Silent SNP A A T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 10 88728307 88728307 A T SNP C10orf116 ENST00000372013 human ensembl 69_37n +1 known silent c.6 p.A2 1.000 NULL NULL - no_errors C10orf116 HGNC ENSG00000148671 40 0 0.00 35 6 14.63 - - - C15orf27 0 genome.wustl.edu 37 15 76496517 76496517 + Missense_Mutation SNP A A T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 15 76496517 76496517 A T SNP C15orf27 ENST00000388942 human ensembl 69_37n +1 known missense c.1457 p.N486I 1.000 NULL NULL - no_errors C15orf27 HGNC ENSG00000169758 18 0 0.00 26 7 21.21 - - - C18orf34 0 genome.wustl.edu 37 18 30926332 30926332 + Silent SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 18 30926332 30926332 G T SNP C18orf34 ENST00000406524 human ensembl 69_37n -1 known silent c.501 p.L167 0.093 NULL NULL - no_errors C18orf34 HGNC ENSG00000166960 13 0 0.00 16 7 30.43 - - - C1orf101 0 genome.wustl.edu 37 1 244780912 244780912 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 1 244780912 244780912 G T SNP C1orf101 ENST00000366534 human ensembl 69_37n +1 known missense c.2572 p.G858C 0.000 NULL NULL - no_errors C1orf101 HGNC ENSG00000179397 33 0 0.00 26 5 16.13 - - - C20orf26 0 genome.wustl.edu 37 20 20144813 20144813 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 20 20144813 20144813 G T SNP C20orf26 ENST00000245957 human ensembl 69_37n +1 known missense c.1146 p.R382S 0.165 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 29 0 0.00 25 5 16.67 - - - C2orf62 0 genome.wustl.edu 37 2 219232223 219232223 + Silent SNP G G C TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 2 219232223 219232223 G C SNP C2orf62 ENST00000289388 human ensembl 69_37n +1 known silent c.903 p.S301 0.001 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C2orf62 HGNC ENSG00000158428 56 0 0.00 25 5 16.67 - - - C4orf50 0 genome.wustl.edu 37 4 5966798 5966798 + Missense_Mutation SNP G G C TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 4 5966798 5966798 G C SNP C4orf50 ENST00000531445 human ensembl 69_37n -1 known missense c.1954 p.P652A 0.000 NULL NULL - no_errors C4orf50 HGNC ENSG00000181215 28 0 0.00 9 9 50.00 - - - C9orf92 0 genome.wustl.edu 37 9 16215799 16215799 + Frame_Shift_Del DEL C C - TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 9 16215799 16215799 C - DEL C9orf92 ENST00000380683 human ensembl 69_37n -1 known frame_shift_del c.161 p.R54fs 0.000 NULL NULL - no_errors C9orf92 HGNC ENSG00000205549 51 0 0.00 51 8 13.56 - - - C9orf92 0 genome.wustl.edu 37 9 16215801 16215801 + Frame_Shift_Del DEL C C - TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 9 16215801 16215801 C - DEL C9orf92 ENST00000380683 human ensembl 69_37n -1 known frame_shift_del c.159 p.R54fs 0.016 NULL NULL - no_errors C9orf92 HGNC ENSG00000205549 51 0 0.00 51 8 13.56 - - - CACNA1H 0 genome.wustl.edu 37 16 1250536 1250536 + Missense_Mutation SNP G G A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 16 1250536 1250536 G A SNP CACNA1H ENST00000348261 human ensembl 69_37n +1 known missense c.1084 p.D362N 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 49 0 0.00 23 6 20.69 - - - CAPZA1 0 genome.wustl.edu 37 1 113212745 113212745 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 1 113212745 113212745 G T SNP CAPZA1 ENST00000263168 human ensembl 69_37n +1 known missense c.852 p.Q284H 1.000 NULL pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha - no_errors CAPZA1 HGNC ENSG00000116489 21 0 0.00 16 3 15.79 - - - CCDC3 0 genome.wustl.edu 37 10 13043387 13043387 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 10 13043387 13043387 G T SNP CCDC3 ENST00000378825 human ensembl 69_37n -1 known missense c.184 p.L62M 1.000 NULL NULL - no_errors CCDC3 HGNC ENSG00000151468 42 0 0.00 41 12 22.64 - - - CCNB3 0 genome.wustl.edu 37 X 50054000 50054000 + Missense_Mutation SNP C C A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee X 50054000 50054000 C A SNP CCNB3 ENST00000276014 human ensembl 69_37n +1 known missense c.2831 p.S944Y 0.000 NULL pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 21 0 0.00 23 5 17.86 - - - CDHR1 0 genome.wustl.edu 37 10 85968097 85968097 + Silent SNP G G A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 10 85968097 85968097 G A SNP CDHR1 ENST00000372117 human ensembl 69_37n +1 known silent c.1131 p.L377 0.780 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 17 0 0.00 12 7 36.84 - - - CEP85 0 genome.wustl.edu 37 1 26604889 26604889 + RNA SNP C C G TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 1 26604889 26604889 C G SNP CEP85 ENST00000469609 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors CEP85 HGNC ENSG00000130695 69 0 0.00 45 11 19.64 - - - CHD5 0 genome.wustl.edu 37 1 6166527 6166527 + Missense_Mutation SNP G G A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 1 6166527 6166527 G A SNP CHD5 ENST00000262450 human ensembl 69_37n -1 known missense c.5785 p.P1929S 1.000 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 34 0 0.00 8 3 27.27 - - - CLIP2 0 genome.wustl.edu 37 7 73731953 73731953 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 7 73731953 73731953 G T SNP CLIP2 ENST00000223398 human ensembl 69_37n +1 known missense c.77 p.G26V 0.265 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 73 0 0.00 38 10 20.83 - - - COL4A5 0 genome.wustl.edu 37 X 107863632 107863632 + Nonsense_Mutation SNP A A T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee X 107863632 107863632 A T SNP COL4A5 ENST00000328300 human ensembl 69_37n +1 known nonsense c.2653 p.K885* 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 56 0 0.00 35 7 16.67 - - - COL6A3 0 genome.wustl.edu 37 2 238271947 238271947 + Missense_Mutation SNP C C A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 2 238271947 238271947 C A SNP COL6A3 ENST00000295550 human ensembl 69_37n -1 known missense c.6012 p.R2004S 1.000 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 26 0 0.00 13 19 59.38 - - - COL6A3 0 genome.wustl.edu 37 2 238271948 238271948 + Missense_Mutation SNP C C A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 2 238271948 238271948 C A SNP COL6A3 ENST00000295550 human ensembl 69_37n -1 known missense c.6011 p.R2004M 1.000 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 26 0 0.00 13 19 59.38 - - - COL6A3 0 genome.wustl.edu 37 2 238271949 238271949 + Silent SNP T T G TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 2 238271949 238271949 T G SNP COL6A3 ENST00000295550 human ensembl 69_37n -1 known silent c.6010 p.R2004 0.974 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 26 0 0.00 13 19 59.38 - - - COL6A6 0 genome.wustl.edu 37 3 130317219 130317219 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 3 130317219 130317219 G T SNP COL6A6 ENST00000358511 human ensembl 69_37n +1 known missense c.4544 p.G1515V 1.000 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 50 0 0.00 31 7 18.42 - - - CSN1S1 0 genome.wustl.edu 37 4 70810696 70810696 + Missense_Mutation SNP A A C TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 4 70810696 70810696 A C SNP CSN1S1 ENST00000246891 human ensembl 69_37n +1 known missense c.531 p.E177D 0.000 NULL NULL - no_errors CSN1S1 HGNC ENSG00000126545 69 0 0.00 28 15 34.88 - - - CWH43 0 genome.wustl.edu 37 4 48996814 48996814 + Silent SNP A A G TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 4 48996814 48996814 A G SNP CWH43 ENST00000226432 human ensembl 69_37n +1 known silent c.690 p.P230 0.188 NULL superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 79 0 0.00 46 29 38.67 - - - DHRS4-AS1 0 genome.wustl.edu 37 14 24410154 24410154 + RNA SNP C C G TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 14 24410154 24410154 C G SNP DHRS4-AS1 ENST00000555045 human ensembl 69_37n -1 known rna NULL NULL 0.019 - - - no_errors DHRS4-AS1 HGNC ENSG00000215256 31 0 0.00 24 9 27.27 - - - DOCK4 0 genome.wustl.edu 37 7 111368358 111368358 + Missense_Mutation SNP G G A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 7 111368358 111368358 G A SNP DOCK4 ENST00000428084 human ensembl 69_37n -1 known missense c.5900 p.P1967L 1.000 NULL pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 26 0 0.00 12 3 20.00 - - - EBAG9 0 genome.wustl.edu 37 8 110575711 110575711 + Missense_Mutation SNP A A C TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 8 110575711 110575711 A C SNP EBAG9 ENST00000531677 human ensembl 69_37n +1 novel missense c.607 p.K203Q 0.000 pirsf_Cancer-assoc_antigen_RCAS1 pirsf_Cancer-assoc_antigen_RCAS1 - no_errors EBAG9 HGNC ENSG00000147654 77 0 0.00 37 22 37.29 - - - EHMT2 0 genome.wustl.edu 37 6 31855581 31855581 + Missense_Mutation SNP C C T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 6 31855581 31855581 C T SNP EHMT2 ENST00000395728 human ensembl 69_37n -1 known missense c.2074 p.A692T 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 45 0 0.00 26 4 13.33 - - - ELL2 0 genome.wustl.edu 37 5 95234410 95234410 + Missense_Mutation SNP A A T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 5 95234410 95234410 A T SNP ELL2 ENST00000237853 human ensembl 69_37n -1 known missense c.1059 p.N353K 1.000 NULL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL2 HGNC ENSG00000118985 83 0 0.00 29 8 21.62 - - - ETV3L 0 genome.wustl.edu 37 1 157069066 157069066 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 1 157069066 157069066 G T SNP ETV3L ENST00000454449 human ensembl 69_37n -1 known missense c.163 p.R55S 1.000 pfam_Ets,smart_Ets,pfscan_Ets pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets - no_errors ETV3L HGNC ENSG00000253831 43 0 0.00 33 7 17.50 - - - EXOC3L4 0 genome.wustl.edu 37 14 103566608 103566608 + Nonsense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 14 103566608 103566608 G T SNP EXOC3L4 ENST00000380069 human ensembl 69_37n +1 known nonsense c.52 p.E18* 0.667 NULL pfam_Sec6 - no_errors EXOC3L4 HGNC ENSG00000205436 27 0 0.00 10 13 56.52 - - - FAT1 0 genome.wustl.edu 37 4 187539186 187539186 + Nonsense_Mutation SNP G G A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 4 187539186 187539186 G A SNP FAT1 ENST00000441802 human ensembl 69_37n -1 known nonsense c.8554 p.Q2852* 0.995 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 52 0 0.00 21 12 36.36 - - - FBXL18 0 genome.wustl.edu 37 7 5529775 5529775 + Missense_Mutation SNP G G C TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 7 5529775 5529775 G C SNP FBXL18 ENST00000453700 human ensembl 69_37n -1 known missense c.2069 p.T690R 0.001 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXL18 HGNC ENSG00000155034 29 0 0.00 15 6 28.57 - - - FGD1 0 genome.wustl.edu 37 X 54496512 54496512 + Silent SNP C C T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee X 54496512 54496512 C T SNP FGD1 ENST00000375135 human ensembl 69_37n -1 known silent c.1038 p.E346 0.996 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 50 0 0.00 55 7 11.29 - - - FLRT1 0 genome.wustl.edu 37 11 63884804 63884804 + Silent SNP C C A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 11 63884804 63884804 C A SNP FLRT1 ENST00000246841 human ensembl 69_37n +1 known silent c.1065 p.L355 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT1 HGNC ENSG00000126500 52 0 0.00 31 15 32.61 - - - GARNL3 0 genome.wustl.edu 37 9 130083004 130083004 + Missense_Mutation SNP C C G TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 9 130083004 130083004 C G SNP GARNL3 ENST00000373387 human ensembl 69_37n +1 known missense c.514 p.L172V 1.000 NULL pfam_Citron,pfam_Rap_GAP,smart_Citron,pfscan_Rap_GAP - no_errors GARNL3 HGNC ENSG00000136895 36 0 0.00 17 7 29.17 - - - GAS2L1 0 genome.wustl.edu 37 22 29704316 29704316 + Missense_Mutation SNP G G A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 22 29704316 29704316 G A SNP GAS2L1 ENST00000403764 human ensembl 69_37n +1 known missense c.221 p.R74H 0.969 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L1 HGNC ENSG00000185340 71 0 0.00 52 14 21.21 - - - GCAT 0 genome.wustl.edu 37 22 38208968 38208968 + Missense_Mutation SNP T T C TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 22 38208968 38208968 T C SNP GCAT ENST00000451984 human ensembl 69_37n +1 novel missense c.356 p.V119A 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GCAT HGNC ENSG00000100116 54 0 0.00 38 16 29.63 - - - GLI2 0 genome.wustl.edu 37 2 121708834 121708834 + Missense_Mutation SNP C C G TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 2 121708834 121708834 C G SNP GLI2 ENST00000361492 human ensembl 69_37n +1 known missense c.270 p.S90R 0.960 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 60 0 0.00 36 10 21.74 - - - GPATCH2 0 genome.wustl.edu 37 1 217671688 217671688 + RNA SNP T T A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 1 217671688 217671688 T A SNP GPATCH2 ENST00000485274 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors GPATCH2 HGNC ENSG00000092978 26 0 0.00 24 5 17.24 - - - GRTP1 0 genome.wustl.edu 37 13 114009686 114009686 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 13 114009686 114009686 G T SNP GRTP1 ENST00000375430 human ensembl 69_37n -1 known missense c.292 p.L98I 0.572 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,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors GRTP1 HGNC ENSG00000139835 70 0 0.00 33 4 10.81 - - - HDAC6 0 genome.wustl.edu 37 X 48681535 48681535 + Missense_Mutation SNP A A T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee X 48681535 48681535 A T SNP HDAC6 ENST00000444343 human ensembl 69_37n +1 known missense c.2768 p.Q923L 0.506 NULL pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 78 0 0.00 46 19 29.23 - - - HHIP 0 genome.wustl.edu 37 4 145655921 145655921 + Missense_Mutation SNP A A G TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 4 145655921 145655921 A G SNP HHIP ENST00000296575 human ensembl 69_37n +1 known missense c.1789 p.T597A 0.001 NULL pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EGF-like,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 36 0 0.00 26 5 16.13 - - - HPGD 0 genome.wustl.edu 37 4 175414428 175414428 + Frame_Shift_Del DEL T T - TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 4 175414428 175414428 T - DEL HPGD ENST00000296522 human ensembl 69_37n -1 known frame_shift_del c.536 p.N179fs 1.000 prints_Glc/ribitol_DH,prints_ADH_insect,prints_DHB_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_ADH_insect,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HPGD HGNC ENSG00000164120 54 0 0.00 10 2 16.67 - - - HSPA12A 0 genome.wustl.edu 37 10 118460472 118460472 + Missense_Mutation SNP C C T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 10 118460472 118460472 C T SNP HSPA12A ENST00000369209 human ensembl 69_37n -1 known missense c.423 p.M141I 1.000 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 38 0 0.00 31 16 34.04 - - - INPP4B 0 genome.wustl.edu 37 4 143007327 143007327 + Missense_Mutation SNP C C G TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 4 143007327 143007327 C G SNP INPP4B ENST00000509777 human ensembl 69_37n -1 known missense c.2457 p.K819N 1.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors INPP4B HGNC ENSG00000109452 73 0 0.00 44 8 15.38 - - - IQGAP2 0 genome.wustl.edu 37 5 75871577 75871577 + Silent SNP T T C TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 5 75871577 75871577 T C SNP IQGAP2 ENST00000274364 human ensembl 69_37n +1 known silent c.441 p.Y147 0.999 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 43 0 0.00 21 7 25.00 - - - IQSEC1 0 genome.wustl.edu 37 3 12963630 12963630 + Missense_Mutation SNP C C G TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 3 12963630 12963630 C G SNP IQSEC1 ENST00000273221 human ensembl 69_37n -1 known missense c.1885 p.E629Q 1.000 pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7 pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC1 HGNC ENSG00000144711 34 0 0.00 40 8 16.67 - - - ITGB2 0 genome.wustl.edu 37 21 46306292 46306292 + Silent SNP A A T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 21 46306292 46306292 A T SNP ITGB2 ENST00000302347 human ensembl 69_37n -1 known silent c.2301 p.A767 0.992 pirsf_Integrin_bsu,pfam_Integrin_bsu_cyt pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 78 0 0.00 35 11 23.91 - - - KCNMA1 0 genome.wustl.edu 37 10 78704719 78704719 + Nonsense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 10 78704719 78704719 G T SNP KCNMA1 ENST00000372421 human ensembl 69_37n -1 known nonsense c.2505 p.Y835* 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KCNMA1 HGNC ENSG00000156113 29 0 0.00 16 4 20.00 - - - KCNU1 0 genome.wustl.edu 37 8 36697999 36697999 + Missense_Mutation SNP T T A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 8 36697999 36697999 T A SNP KCNU1 ENST00000399881 human ensembl 69_37n +1 known missense c.1537 p.W513R 0.968 pfam_K_chnl_Ca-activ_BK_asu pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 54 0 0.00 19 11 36.67 - - - KIAA1755 0 genome.wustl.edu 37 20 36869996 36869996 + Silent SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 20 36869996 36869996 G T SNP KIAA1755 ENST00000279024 human ensembl 69_37n -1 known silent c.537 p.T179 0.220 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 53 0 0.00 33 7 16.67 - - - KIF27 0 genome.wustl.edu 37 9 86485475 86485475 + Nonsense_Mutation SNP T T A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 9 86485475 86485475 T A SNP KIF27 ENST00000297814 human ensembl 69_37n -1 known nonsense c.2716 p.K906* 0.025 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 69 0 0.00 43 29 40.28 - - - KIF5C 0 genome.wustl.edu 37 2 149799215 149799215 + Missense_Mutation SNP C C A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 2 149799215 149799215 C A SNP KIF5C ENST00000435030 human ensembl 69_37n +1 known missense c.530 p.P177H 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 31 0 0.00 7 4 36.36 - - - LAMB1 0 genome.wustl.edu 37 7 107564469 107564469 + Missense_Mutation SNP C C G TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 7 107564469 107564469 C G SNP LAMB1 ENST00000222399 human ensembl 69_37n -1 known missense c.5288 p.R1763T 0.054 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 50 0 0.00 31 5 13.89 - - - LRRC28 0 genome.wustl.edu 37 15 99926306 99926306 + Nonstop_Mutation SNP G G C TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 15 99926306 99926306 G C SNP LRRC28 ENST00000301981 human ensembl 69_37n +1 known nonstop c.1103 p.*368S 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC28 HGNC ENSG00000168904 52 0 0.00 84 10 10.64 - - - LYZL4 0 genome.wustl.edu 37 3 42448452 42448452 + Missense_Mutation SNP T T C TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 3 42448452 42448452 T C SNP LYZL4 ENST00000287748 human ensembl 69_37n -1 known missense c.178 p.M60V 0.074 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22_lys pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL4 HGNC ENSG00000157093 46 0 0.00 52 29 35.80 - - - MAN2B2 0 genome.wustl.edu 37 4 6598859 6598859 + Missense_Mutation SNP G G A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 4 6598859 6598859 G A SNP MAN2B2 ENST00000505907 human ensembl 69_37n +1 known missense c.1073 p.R358Q 0.040 pfam_Glyco_hydro_38_cen_dom,smart_Glyco_hydro_38_cen_dom pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MAN2B2 HGNC ENSG00000013288 83 0 0.00 71 10 12.35 - - - MAP2K1 0 genome.wustl.edu 37 15 66727520 66727520 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 15 66727520 66727520 G T SNP MAP2K1 ENST00000307102 human ensembl 69_37n +1 known missense c.236 p.G79V 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP2K1 HGNC ENSG00000169032 40 0 0.00 31 4 11.43 - - - MECOM 0 genome.wustl.edu 37 3 169099259 169099259 + Missense_Mutation SNP C C G TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 3 169099259 169099259 C G SNP MECOM ENST00000494292 human ensembl 69_37n -1 known missense c.91 p.D31H 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 52 0 0.00 61 7 10.29 - - - MED18 0 genome.wustl.edu 37 1 28661311 28661311 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 1 28661311 28661311 G T SNP MED18 ENST00000373842 human ensembl 69_37n +1 known missense c.457 p.V153L 1.000 pfam_Mediator_Med18_met/fun pfam_Mediator_Med18_met/fun - no_errors MED18 HGNC ENSG00000130772 41 0 0.00 52 8 13.33 - - - MIR218-2 0 genome.wustl.edu 37 5 168195160 168195160 + RNA SNP G G C TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 5 168195160 168195160 G C SNP MIR218-2 ENST00000385006 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors MIR218-2 HGNC ENSG00000207739 73 0 0.00 36 9 20.00 - - - MLK7-AS1 0 genome.wustl.edu 37 2 174074578 174074578 + RNA SNP C C T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 2 174074578 174074578 C T SNP MLK7-AS1 ENST00000423106 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors MLK7-AS1 HGNC ENSG00000238133 19 0 0.00 20 10 33.33 - - - MPHOSPH10 0 genome.wustl.edu 37 2 71375164 71375164 + Silent SNP A A T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 2 71375164 71375164 A T SNP MPHOSPH10 ENST00000244230 human ensembl 69_37n +1 known silent c.1593 p.P531 0.136 pfam_Mpp10,pirsf_snoRNP_Mpp10 pfam_Mpp10,pirsf_snoRNP_Mpp10 - no_errors MPHOSPH10 HGNC ENSG00000124383 38 0 0.00 20 4 16.67 - - - MRPL16 0 genome.wustl.edu 37 11 59574217 59574217 + Missense_Mutation SNP G G C TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 11 59574217 59574217 G C SNP MRPL16 ENST00000300151 human ensembl 69_37n -1 known missense c.359 p.A120G 0.998 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,prints_Ribosomal_L16 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,prints_Ribosomal_L16 - no_errors MRPL16 HGNC ENSG00000166902 66 0 0.00 48 15 23.81 - - - MRPL18 0 genome.wustl.edu 37 6 160212106 160212106 + Missense_Mutation SNP A A G TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 6 160212106 160212106 A G SNP MRPL18 ENST00000367034 human ensembl 69_37n +1 known missense c.187 p.R63G 0.969 NULL pfam_Ribosomal_L18/L5 - no_errors MRPL18 HGNC ENSG00000112110 66 0 0.00 29 15 34.09 - - - MRPL42 0 genome.wustl.edu 37 12 93870793 93870793 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 12 93870793 93870793 G T SNP MRPL42 ENST00000361630 human ensembl 69_37n +1 known missense c.134 p.C45F 1.000 pfam_Ribosomal-S32_mit pfam_Ribosomal-S32_mit - no_errors MRPL42 HGNC ENSG00000198015 39 0 0.00 24 3 11.11 - - - MTPAP 0 genome.wustl.edu 37 10 30662734 30662734 + RNA SNP G G C TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 10 30662734 30662734 G C SNP MTPAP ENST00000471055 human ensembl 69_37n -1 known rna NULL NULL 0.093 - - - no_errors MTPAP HGNC ENSG00000107951 23 0 0.00 14 4 22.22 - - - MUC19 0 genome.wustl.edu 37 12 40959495 40959495 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 12 40959495 40959495 G T SNP MUC19 ENST00000380816 human ensembl 69_37n +1 novel missense c.1523 p.R508I 0.150 smart_VWF_C,pfscan_VWF_C pfam_Cys_knot,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MUC19 HGNC ENSG00000205592 39 0 0.00 19 3 13.64 - - - MYO7B 0 genome.wustl.edu 37 2 128387299 128387299 + Missense_Mutation SNP C C A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 2 128387299 128387299 C A SNP MYO7B ENST00000389524 human ensembl 69_37n +1 known missense c.4626 p.N1542K 0.343 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 53 0 0.00 57 7 10.94 - - - NCF2 0 genome.wustl.edu 37 1 183536063 183536063 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 1 183536063 183536063 G T SNP NCF2 ENST00000367535 human ensembl 69_37n -1 known missense c.916 p.Q306K 1.000 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_TPR-1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain - no_errors NCF2 HGNC ENSG00000116701 50 0 0.00 39 34 46.58 - - - NFASC 0 genome.wustl.edu 37 1 204991709 204991709 + RNA SNP C C T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 1 204991709 204991709 C T SNP NFASC ENST00000495396 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors NFASC HGNC ENSG00000163531 51 0 0.00 69 17 19.77 - - - NMD3 0 genome.wustl.edu 37 3 160952962 160952962 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 3 160952962 160952962 G T SNP NMD3 ENST00000351193 human ensembl 69_37n +1 known missense c.539 p.G180V 1.000 pfam_NMD3 pfam_NMD3 - no_errors NMD3 HGNC ENSG00000169251 58 0 0.00 44 10 18.52 - - - NODAL 0 genome.wustl.edu 37 10 72192733 72192733 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 10 72192733 72192733 G T SNP NODAL ENST00000287139 human ensembl 69_37n -1 known missense c.1003 p.H335N 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors NODAL HGNC ENSG00000156574 31 0 0.00 16 5 23.81 - - - NT5E 0 genome.wustl.edu 37 6 86195080 86195080 + Missense_Mutation SNP G G A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 6 86195080 86195080 G A SNP NT5E ENST00000416334 human ensembl 69_37n +1 known missense c.173 p.S58N 0.840 NULL pfam_5'-Nucleotdase_C,superfamily_5'-Nucleotdase_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NT5E HGNC ENSG00000135318 45 0 0.00 37 8 17.78 - - - NUP88 0 genome.wustl.edu 37 17 5264483 5264483 + RNA SNP T T G TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 17 5264483 5264483 T G SNP NUP88 ENST00000573169 human ensembl 69_37n -1 known rna NULL NULL 0.025 - - - no_errors NUP88 HGNC ENSG00000108559 55 0 0.00 30 22 42.31 - - - OBSCN 0 genome.wustl.edu 37 1 228486289 228486289 + Missense_Mutation SNP G G A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 1 228486289 228486289 G A SNP OBSCN ENST00000366707 human ensembl 69_37n +1 known missense c.3151 p.G1051S 0.594 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 35 0 0.00 32 5 13.51 - - - OR11H4 0 genome.wustl.edu 37 14 20711477 20711477 + Missense_Mutation SNP T T A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 14 20711477 20711477 T A SNP OR11H4 ENST00000315409 human ensembl 69_37n +1 known missense c.527 p.L176H 0.397 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR11H4 HGNC ENSG00000176198 52 0 0.00 44 12 21.43 - - - OR1C1 0 genome.wustl.edu 37 1 247921583 247921583 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 1 247921583 247921583 G T SNP OR1C1 ENST00000408896 human ensembl 69_37n -1 known missense c.126 p.N42K 0.904 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR1C1 HGNC ENSG00000221888 17 0 0.00 10 3 23.08 - - - OR2B2 0 genome.wustl.edu 37 6 27879224 27879224 + Missense_Mutation SNP G G A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 6 27879224 27879224 G A SNP OR2B2 ENST00000303324 human ensembl 69_37n -1 known missense c.874 p.L292F 0.940 prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2B2 HGNC ENSG00000168131 46 0 0.00 34 7 17.07 - - - OR4A16 0 genome.wustl.edu 37 11 55111386 55111386 + Missense_Mutation SNP C C A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 11 55111386 55111386 C A SNP OR4A16 ENST00000314721 human ensembl 69_37n +1 known missense c.710 p.T237N 0.997 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4A16 HGNC ENSG00000181961 68 0 0.00 43 7 14.00 - - - OR4D11 0 genome.wustl.edu 37 11 59271930 59271930 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 11 59271930 59271930 G T SNP OR4D11 ENST00000313253 human ensembl 69_37n +1 known missense c.882 p.M294I 1.000 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4D11 HGNC ENSG00000176200 49 0 0.00 27 5 15.62 - - - OR6Q1 0 genome.wustl.edu 37 11 57798717 57798717 + Missense_Mutation SNP A A T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 11 57798717 57798717 A T SNP OR6Q1 ENST00000302622 human ensembl 69_37n +1 known missense c.293 p.Y98F 0.100 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6Q1 HGNC ENSG00000172381 66 0 0.00 58 10 14.71 - - - OR6Y1 0 genome.wustl.edu 37 1 158517370 158517370 + Missense_Mutation SNP T T A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 1 158517370 158517370 T A SNP OR6Y1 ENST00000302617 human ensembl 69_37n -1 known missense c.526 p.M176L 0.081 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR6Y1 HGNC ENSG00000197532 31 0 0.00 36 4 10.00 - - - OXSM 0 genome.wustl.edu 37 3 25831376 25831376 + RNA SNP C C A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 3 25831376 25831376 C A SNP OXSM ENST00000464688 human ensembl 69_37n +1 putative rna NULL NULL 0.000 - - - no_errors OXSM HGNC ENSG00000151093 24 0 0.00 23 5 17.86 - - - PARP8 0 genome.wustl.edu 37 5 50090981 50090981 + Silent SNP T T A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 5 50090981 50090981 T A SNP PARP8 ENST00000281631 human ensembl 69_37n +1 known silent c.1158 p.T386 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP8 HGNC ENSG00000151883 32 0 0.00 24 7 22.58 - - - PCDH1 0 genome.wustl.edu 37 5 141243274 141243274 + Silent SNP C C G TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 5 141243274 141243274 C G SNP PCDH1 ENST00000287008 human ensembl 69_37n -1 known silent c.2622 p.V874 0.994 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 67 0 0.00 38 8 17.39 - - - PCDH10 0 genome.wustl.edu 37 4 134072729 134072729 + Silent SNP T T C TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 4 134072729 134072729 T C SNP PCDH10 ENST00000264360 human ensembl 69_37n +1 known silent c.1434 p.P478 0.007 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 19 0 0.00 15 6 28.57 - - - PCDHGA2 0 genome.wustl.edu 37 5 140720608 140720608 + Silent SNP T T C TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 5 140720608 140720608 T C SNP PCDHGA2 ENST00000394576 human ensembl 69_37n +1 known silent c.2070 p.T690 0.018 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 106 0 0.00 72 16 18.18 - - - PCED1B 0 genome.wustl.edu 37 12 47629972 47629972 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 12 47629972 47629972 G T SNP PCED1B ENST00000432328 human ensembl 69_37n +1 known missense c.1126 p.G376C 0.000 NULL superfamily_Esterase_SGNH_hydro-type - no_errors PCED1B HGNC ENSG00000179715 52 0 0.00 33 8 19.51 - - - PDE3B 0 genome.wustl.edu 37 11 14808117 14808117 + Silent SNP T T C TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 11 14808117 14808117 T C SNP PDE3B ENST00000282096 human ensembl 69_37n +1 known silent c.1164 p.G388 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 63 0 0.00 33 9 21.43 - - - PER3 0 genome.wustl.edu 37 1 7890053 7890053 + Missense_Mutation SNP G G A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 1 7890053 7890053 G A SNP PER3 ENST00000361923 human ensembl 69_37n +1 known missense c.3019 p.A1007T 0.080 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 51 0 0.00 23 6 20.69 - - - PER3 0 genome.wustl.edu 37 1 7890055 7890055 + Silent SNP T T A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 1 7890055 7890055 T A SNP PER3 ENST00000361923 human ensembl 69_37n +1 known silent c.3021 p.A1007 0.063 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 50 0 0.00 23 4 14.81 - - - PKD1 0 genome.wustl.edu 37 16 2156874 2156874 + Missense_Mutation SNP C C G TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 16 2156874 2156874 C G SNP PKD1 ENST00000262304 human ensembl 69_37n -1 known missense c.7141 p.V2381L 1.000 pfam_PKD/REJ-like,pfscan_REJ-like,tigrfam_Polycystin_cat 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 108 0 0.00 61 16 20.78 - - - PLA2G12A 0 genome.wustl.edu 37 4 110638792 110638792 + Missense_Mutation SNP C C G TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 4 110638792 110638792 C G SNP PLA2G12A ENST00000243501 human ensembl 69_37n -1 known missense c.363 p.K121N 1.000 pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2 pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2 - no_errors PLA2G12A HGNC ENSG00000123739 53 0 0.00 34 6 15.00 - - - PLCD4 0 genome.wustl.edu 37 2 219494264 219494264 + Missense_Mutation SNP T T G TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 2 219494264 219494264 T G SNP PLCD4 ENST00000417849 human ensembl 69_37n +1 known missense c.997 p.C333G 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD4 HGNC ENSG00000115556 61 0 0.00 15 7 31.82 - - - PLVAP 0 genome.wustl.edu 37 19 17476455 17476455 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 19 17476455 17476455 G T SNP PLVAP ENST00000252590 human ensembl 69_37n -1 known missense c.819 p.D273E 0.013 pfam_PV-1 pfam_PV-1 - no_errors PLVAP HGNC ENSG00000130300 62 0 0.00 33 5 13.16 - - - PODN 0 genome.wustl.edu 37 1 53544664 53544664 + Silent SNP C C T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 1 53544664 53544664 C T SNP PODN ENST00000312553 human ensembl 69_37n +1 known silent c.1626 p.P542 0.011 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors PODN HGNC ENSG00000174348 23 0 0.00 10 8 44.44 - - - POF1B 0 genome.wustl.edu 37 X 84614599 84614599 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee X 84614599 84614599 G T SNP POF1B ENST00000373145 human ensembl 69_37n -1 known missense c.394 p.P132T 1.000 NULL NULL - no_errors POF1B HGNC ENSG00000124429 54 0 0.00 34 4 10.53 - - - POLR2J4 0 genome.wustl.edu 37 7 44053976 44053976 + RNA SNP G G A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 7 44053976 44053976 G A SNP POLR2J4 ENST00000326391 human ensembl 69_37n -1 known rna NULL NULL 0.005 - - - no_errors POLR2J4 HGNC ENSG00000214783 30 0 0.00 28 4 12.50 - - - PRSS50 0 genome.wustl.edu 37 3 46754418 46754418 + Silent SNP C C T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 3 46754418 46754418 C T SNP PRSS50 ENST00000315170 human ensembl 69_37n -1 known silent c.894 p.E298 0.072 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS50 HGNC ENSG00000206549 54 0 0.00 55 8 12.70 - - - PTPN9 0 genome.wustl.edu 37 15 75763106 75763106 + Missense_Mutation SNP C C T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 15 75763106 75763106 C T SNP PTPN9 ENST00000306726 human ensembl 69_37n -1 known missense c.1274 p.R425Q 0.996 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_CRAL-TRIO_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_CRAL-bd_toc_tran - no_errors PTPN9 HGNC ENSG00000169410 72 0 0.00 63 14 18.18 - - - PUM1 0 genome.wustl.edu 37 1 31538615 31538615 + Silent SNP C C G TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 1 31538615 31538615 C G SNP PUM1 ENST00000373741 human ensembl 69_37n -1 putative silent c.18 p.P6 0.995 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM1 HGNC ENSG00000134644 68 0 0.00 34 12 26.09 - - - RALGAPA2 0 genome.wustl.edu 37 20 20501588 20501588 + Missense_Mutation SNP A A T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 20 20501588 20501588 A T SNP RALGAPA2 ENST00000202677 human ensembl 69_37n -1 known missense c.4057 p.L1353M 0.000 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA2 HGNC ENSG00000188559 30 0 0.00 8 6 42.86 - - - RGS12 0 genome.wustl.edu 37 4 3344159 3344159 + RNA SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 4 3344159 3344159 G T SNP RGS12 ENST00000513784 human ensembl 69_37n +1 known rna NULL NULL 0.004 - - - no_errors RGS12 HGNC ENSG00000159788 39 0 0.00 27 4 12.90 - - - RNF123 0 genome.wustl.edu 37 3 49742109 49742109 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 3 49742109 49742109 G T SNP RNF123 ENST00000327697 human ensembl 69_37n +1 known missense c.1879 p.V627L 0.977 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 33 0 0.00 12 8 40.00 - - - RNF167 0 genome.wustl.edu 37 17 4843979 4843979 + RNA SNP A A G TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 17 4843979 4843979 A G SNP RNF167 ENST00000570492 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors RNF167 HGNC ENSG00000108523 56 0 0.00 25 29 53.70 - - - ROS1 0 genome.wustl.edu 37 6 117700254 117700254 + Missense_Mutation SNP A A C TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 6 117700254 117700254 A C SNP ROS1 ENST00000368508 human ensembl 69_37n -1 known missense c.2565 p.I855M 0.998 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 37 0 0.00 25 32 56.14 - - - RTBDN 0 genome.wustl.edu 37 19 12939557 12939557 + Missense_Mutation SNP G G A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 19 12939557 12939557 G A SNP RTBDN ENST00000393233 human ensembl 69_37n -1 known missense c.155 p.S52F 0.636 NULL NULL - no_errors RTBDN HGNC ENSG00000132026 33 0 0.00 10 6 37.50 - - - SIGLEC6 0 genome.wustl.edu 37 19 52023428 52023428 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 19 52023428 52023428 G T SNP SIGLEC6 ENST00000425629 human ensembl 69_37n -1 known missense c.1270 p.L424I 0.033 NULL pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC6 HGNC ENSG00000105492 60 0 0.00 48 18 27.27 - - - SLAMF1 0 genome.wustl.edu 37 1 160607175 160607175 + Missense_Mutation SNP A A T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 1 160607175 160607175 A T SNP SLAMF1 ENST00000302035 human ensembl 69_37n -1 known missense c.221 p.V74D 0.037 pfam_Sig_lymph_act_molc_N pfam_Sig_lymph_act_molc_N,pfscan_Ig-like - no_errors SLAMF1 HGNC ENSG00000117090 55 0 0.00 59 13 18.06 - - - SLC17A4 0 genome.wustl.edu 37 6 25776936 25776936 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 6 25776936 25776936 G T SNP SLC17A4 ENST00000377905 human ensembl 69_37n +1 known missense c.1101 p.R367S 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A4 HGNC ENSG00000146039 32 0 0.00 39 8 17.02 - - - SLC22A10 0 genome.wustl.edu 37 11 63057905 63057905 + Missense_Mutation SNP C C T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 11 63057905 63057905 C T SNP SLC22A10 ENST00000332793 human ensembl 69_37n +1 known missense c.268 p.R90C 0.224 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A10 HGNC ENSG00000184999 41 0 0.00 26 6 18.75 - - - SLC23A3 0 genome.wustl.edu 37 2 220033428 220033428 + Missense_Mutation SNP G G C TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 2 220033428 220033428 G C SNP SLC23A3 ENST00000455516 human ensembl 69_37n -1 known missense c.644 p.S215C 0.995 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A3 HGNC ENSG00000213901 22 0 0.00 25 5 16.67 - - - SLC4A4 0 genome.wustl.edu 37 4 72102346 72102346 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 4 72102346 72102346 G T SNP SLC4A4 ENST00000425175 human ensembl 69_37n +1 known missense c.53 p.C18F 1.000 NULL pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 34 0 0.00 9 3 25.00 - - - SP100 0 genome.wustl.edu 37 2 231308967 231308967 + Silent SNP G G A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 2 231308967 231308967 G A SNP SP100 ENST00000340126 human ensembl 69_37n +1 known silent c.345 p.K115 0.690 pfam_Sp100 pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 57 0 0.00 28 7 20.00 - - - TCTE1 0 genome.wustl.edu 37 6 44254202 44254202 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 6 44254202 44254202 G T SNP TCTE1 ENST00000371505 human ensembl 69_37n -1 known missense c.345 p.D115E 0.855 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors TCTE1 HGNC ENSG00000146221 66 0 0.00 56 16 22.22 - - - THAP7-AS1 0 genome.wustl.edu 37 22 21356745 21356745 + RNA SNP T T C TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 22 21356745 21356745 T C SNP THAP7-AS1 ENST00000429962 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors THAP7-AS1 HGNC ENSG00000230513 62 0 0.00 47 6 11.32 - - - TINAG 0 genome.wustl.edu 37 6 54254718 54254718 + Missense_Mutation SNP C C G TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 6 54254718 54254718 C G SNP TINAG ENST00000259782 human ensembl 69_37n +1 known missense c.1426 p.P476A 0.994 NULL pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAG HGNC ENSG00000137251 43 0 0.00 31 7 18.42 - - - TP53 0 genome.wustl.edu 37 17 7578239 7578239 + Nonsense_Mutation SNP C C A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 17 7578239 7578239 C A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.610 p.E204* 0.045 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 40 0 0.00 22 17 43.59 - - - TRIM64C 0 genome.wustl.edu 37 11 49080382 49080382 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 11 49080382 49080382 G T SNP TRIM64C ENST00000530230 human ensembl 69_37n -1 known missense c.283 p.H95N 0.000 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM64C HGNC ENSG00000214891 74 0 0.00 57 13 18.57 - - - TRPA1 0 genome.wustl.edu 37 8 72975065 72975065 + Missense_Mutation SNP A A G TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 8 72975065 72975065 A G SNP TRPA1 ENST00000262209 human ensembl 69_37n -1 known missense c.776 p.L259P 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 70 0 0.00 24 8 25.00 - - - TSGA10 0 genome.wustl.edu 37 2 99695169 99695169 + Nonsense_Mutation SNP T T A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 2 99695169 99695169 T A SNP TSGA10 ENST00000355053 human ensembl 69_37n -1 known nonsense c.835 p.K279* 1.000 NULL NULL - no_errors TSGA10 HGNC ENSG00000135951 29 0 0.00 29 12 29.27 - - - UBE4B 0 genome.wustl.edu 37 1 10228305 10228305 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 1 10228305 10228305 G T SNP UBE4B ENST00000343090 human ensembl 69_37n +1 known missense c.3310 p.V1104F 1.000 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 50 0 0.00 34 4 10.53 - - - USP39 0 genome.wustl.edu 37 2 85850904 85850904 + Missense_Mutation SNP C C T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 2 85850904 85850904 C T SNP USP39 ENST00000409470 human ensembl 69_37n +1 known missense c.569 p.T190M 1.000 NULL pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP39 HGNC ENSG00000168883 62 0 0.00 40 8 16.67 - - - ZBED1 0 genome.wustl.edu 37 X 2408349 2408349 + Silent SNP G G A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee X 2408349 2408349 G A SNP ZBED1 ENST00000381218 human ensembl 69_37n -1 known silent c.412 p.L138 0.869 NULL pfam_HATC,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 58 0 0.00 42 15 26.32 - - - ZFP64 0 genome.wustl.edu 37 20 50701237 50701237 + Missense_Mutation SNP C C G TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 20 50701237 50701237 C G SNP ZFP64 ENST00000361387 human ensembl 69_37n -1 known missense c.1797 p.K599N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 25 0 0.00 25 5 16.67 - - - ZIC5 0 genome.wustl.edu 37 13 100623858 100623858 + Silent SNP C C G TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 13 100623858 100623858 C G SNP ZIC5 ENST00000267294 human ensembl 69_37n -1 novel silent c.72 p.L24 0.963 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC5 HGNC ENSG00000139800 41 0 0.00 32 5 13.51 - - - ZNF136 0 genome.wustl.edu 37 19 12297991 12297991 + Silent SNP A A T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 19 12297991 12297991 A T SNP ZNF136 ENST00000343979 human ensembl 69_37n +1 known silent c.798 p.S266 0.003 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF136 HGNC ENSG00000196646 33 0 0.00 16 3 15.79 - - - ZNF17 0 genome.wustl.edu 37 19 57929403 57929403 + Missense_Mutation SNP G G A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 19 57929403 57929403 G A SNP ZNF17 ENST00000307658 human ensembl 69_37n +1 known missense c.139 p.V47I 0.003 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF17 HGNC ENSG00000186272 40 0 0.00 18 4 18.18 - - - ZNF182 0 genome.wustl.edu 37 X 47842725 47842725 + Silent SNP T T C TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee X 47842725 47842725 T C SNP ZNF182 ENST00000305127 human ensembl 69_37n -1 known silent c.159 p.R53 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF182 HGNC ENSG00000147118 54 0 0.00 35 35 50.00 - - - ZNF205 0 genome.wustl.edu 37 16 3169627 3169627 + Missense_Mutation SNP C C G TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 16 3169627 3169627 C G SNP ZNF205 ENST00000219091 human ensembl 69_37n +1 known missense c.966 p.H322Q 0.950 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF205 HGNC ENSG00000122386 29 0 0.00 24 4 14.29 - - - ZNF300P1 0 genome.wustl.edu 37 5 150311185 150311185 + RNA SNP T T C TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 5 150311185 150311185 T C SNP ZNF300P1 ENST00000520773 human ensembl 69_37n -1 known rna NULL NULL 0.013 - - - no_errors ZNF300P1 HGNC ENSG00000197083 22 0 0.00 2 6 75.00 - - - ZNF480 0 genome.wustl.edu 37 19 52824909 52824909 + Silent SNP C C T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 19 52824909 52824909 C T SNP ZNF480 ENST00000468240 human ensembl 69_37n +1 known silent c.406 p.L136 0.172 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF480 HGNC ENSG00000198464 41 0 0.00 25 5 16.67 - - - ZNF630 0 genome.wustl.edu 37 X 47918374 47918374 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee X 47918374 47918374 G T SNP ZNF630 ENST00000409324 human ensembl 69_37n -1 known missense c.1457 p.P486H 0.973 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF630 HGNC ENSG00000221994 27 0 0.00 16 4 20.00 - - - ZZZ3 0 genome.wustl.edu 37 1 78098298 78098298 + Nonsense_Mutation SNP G G A TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0448206f-3ade-4087-b1a9-4fb2d14e1367 8fc3cfb0-e245-4089-a73c-8d93cb8fc5ee 1 78098298 78098298 G A SNP ZZZ3 ENST00000370801 human ensembl 69_37n -1 known nonsense c.742 p.Q248* 0.007 NULL pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors ZZZ3 HGNC ENSG00000036549 26 0 0.00 39 7 15.22 - - -