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 ABCA13 0 genome.wustl.edu 37 7 48285575 48285575 + Missense_Mutation SNP A A G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 7 48285575 48285575 A G SNP ABCA13 ENST00000435803 human ensembl 69_37n +1 known missense c.1607 p.N536S 0.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 39 0 0.00 48 12 20.00 - - - ABCF2 0 genome.wustl.edu 37 7 150913108 150913108 + Missense_Mutation SNP G G T TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 7 150913108 150913108 G T SNP ABCF2 ENST00000222388 human ensembl 69_37n -1 known missense c.1346 p.P449H 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF2 HGNC ENSG00000033050 132 0 0.00 74 21 22.11 - - - ACCS 0 genome.wustl.edu 37 11 44104793 44104793 + Missense_Mutation SNP C C T TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 11 44104793 44104793 C T SNP ACCS ENST00000263776 human ensembl 69_37n +1 known missense c.1186 p.L396F 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_ACC_synthase - no_errors ACCS HGNC ENSG00000110455 178 0 0.00 190 75 28.20 - - - ADAM15 0 genome.wustl.edu 37 1 155029738 155029740 + In_Frame_Del DEL GCT GCT - TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 1 155029738 155029740 GCT - DEL ADAM15 ENST00000356955 human ensembl 69_37n +1 known in_frame_del c.1223_1225 p.C409in_frame_del 1.000:1.000:1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM15 HGNC ENSG00000143537 52 0 0.00 36 5 11.90 - - - ADAMTS17 0 genome.wustl.edu 37 15 100801809 100801809 + Silent SNP C C A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 15 100801809 100801809 C A SNP ADAMTS17 ENST00000268070 human ensembl 69_37n -1 known silent c.906 p.R302 1.000 pfscan_Peptidase_M12B pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 31 0 0.00 23 5 17.86 - - - AFF2 0 genome.wustl.edu 37 X 148037858 148037858 + Silent SNP T T C TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 X 148037858 148037858 T C SNP AFF2 ENST00000370460 human ensembl 69_37n +1 known silent c.2283 p.S761 0.961 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 246 0 0.00 149 44 22.68 - - - ALAS1 0 genome.wustl.edu 37 3 52239960 52239960 + Silent SNP G G C TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 3 52239960 52239960 G C SNP ALAS1 ENST00000310271 human ensembl 69_37n +1 known silent c.906 p.G302 0.867 pfam_Aminotransferase_I/II,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS1 HGNC ENSG00000023330 167 0 0.00 105 37 26.06 - - - ALDH1L1 0 genome.wustl.edu 37 3 125877412 125877412 + Missense_Mutation SNP C C G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 3 125877412 125877412 C G SNP ALDH1L1 ENST00000393434 human ensembl 69_37n -1 known missense c.198 p.L66F 0.998 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 89 0 0.00 28 11 28.21 - - - APOB 0 genome.wustl.edu 37 2 21241873 21241873 + Nonsense_Mutation SNP G G A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 2 21241873 21241873 G A SNP APOB ENST00000233242 human ensembl 69_37n -1 known nonsense c.3112 p.Q1038* 0.983 pfam_Lipid_transpt_open_b-sht pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 260 0 0.00 144 130 47.45 - - - ARID4A 0 genome.wustl.edu 37 14 58831916 58831916 + Missense_Mutation SNP C C G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 14 58831916 58831916 C G SNP ARID4A ENST00000355431 human ensembl 69_37n +1 known missense c.3109 p.Q1037E 0.997 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 104 0 0.00 78 97 55.11 - - - ASB15 0 genome.wustl.edu 37 7 123256326 123256326 + Silent SNP A A G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 7 123256326 123256326 A G SNP ASB15 ENST00000275699 human ensembl 69_37n +1 known silent c.159 p.Q53 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB15 HGNC ENSG00000146809 54 0 0.00 68 78 53.42 - - - BAI1 0 genome.wustl.edu 37 8 143569787 143569787 + Missense_Mutation SNP T T G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 8 143569787 143569787 T G SNP BAI1 ENST00000323289 human ensembl 69_37n +1 known missense c.2371 p.W791G 1.000 pfam_DUF3497,prints_GPCR_2_brain-spec_angio_inhib pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 14 0 0.00 15 14 48.28 - - - BAZ1A 0 genome.wustl.edu 37 14 35245596 35245596 + Missense_Mutation SNP C C T TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 14 35245596 35245596 C T SNP BAZ1A ENST00000360310 human ensembl 69_37n -1 known missense c.2362 p.E788K 1.000 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 158 0 0.00 68 81 54.36 - - - BCKDK 0 genome.wustl.edu 37 16 31122020 31122022 + In_Frame_Del DEL CGG CGG - TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 CGG CGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 16 31122020 31122022 CGG - DEL BCKDK ENST00000219794 human ensembl 69_37n +1 known in_frame_del c.654_656 p.G219in_frame_del 0.970:1.000:1.000 pfam_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core,prints_Sig_transdc_His_kin-like_C - no_errors BCKDK HGNC ENSG00000103507 54 0 0.00 26 3 10.00 - - - BLK 0 genome.wustl.edu 37 8 11400751 11400752 + Frame_Shift_Ins INS - - A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 8 11400751 11400752 - A INS BLK ENST00000259089 human ensembl 69_37n +1 known frame_shift_ins c.18_19 p.P8fs 1.000:1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors BLK HGNC ENSG00000136573 48 0 0.00 42 11 20.75 - - - C19orf43 0 genome.wustl.edu 37 19 12841864 12841864 + Missense_Mutation SNP C C T TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 19 12841864 12841864 C T SNP C19orf43 ENST00000242784 human ensembl 69_37n -1 known missense c.442 p.D148N 1.000 NULL NULL - no_errors C19orf43 HGNC ENSG00000123144 184 0 0.00 33 16 32.00 - - - C9orf174 0 genome.wustl.edu 37 9 100075583 100075583 + Missense_Mutation SNP A A C TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 9 100075583 100075583 A C SNP C9orf174 ENST00000375202 human ensembl 69_37n +1 known missense c.547 p.S183R 0.000 NULL NULL - no_errors C9orf174 HGNC ENSG00000197816 66 0 0.00 41 11 21.15 - - - CBL 0 genome.wustl.edu 37 11 119142562 119142562 + Silent SNP G G A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 11 119142562 119142562 G A SNP CBL ENST00000264033 human ensembl 69_37n +1 known silent c.561 p.A187 0.516 pfam_Adaptor_Cbl_EF_hand-like pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBL HGNC ENSG00000110395 165 1 0.60 211 60 22.14 - - - CCHCR1 0 genome.wustl.edu 37 6 31117874 31117874 + Missense_Mutation SNP T T C TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 6 31117874 31117874 T C SNP CCHCR1 ENST00000396268 human ensembl 69_37n -1 known missense c.1331 p.H444R 0.590 pfam_HCR pfam_HCR - no_errors CCHCR1 HGNC ENSG00000204536 122 0 0.00 54 9 14.29 - - - CDH19 0 genome.wustl.edu 37 18 64197168 64197168 + Missense_Mutation SNP C C G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 18 64197168 64197168 C G SNP CDH19 ENST00000262150 human ensembl 69_37n -1 known missense c.1372 p.V458L 0.989 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH19 HGNC ENSG00000071991 37 0 0.00 89 35 28.23 - - - CENPF 0 genome.wustl.edu 37 1 214819500 214819500 + Missense_Mutation SNP G G A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 1 214819500 214819500 G A SNP CENPF ENST00000366955 human ensembl 69_37n +1 known missense c.6587 p.R2196K 0.000 pfam_Centromere_CenpF_leu-rich_rpt pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 197 0 0.00 269 156 36.62 - - - CRYBG3 0 genome.wustl.edu 37 3 97598935 97598935 + Missense_Mutation SNP T T C TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 3 97598935 97598935 T C SNP CRYBG3 ENST00000182096 human ensembl 69_37n +1 known missense c.1151 p.V384A 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 38 0 0.00 84 23 21.50 - - - CYP26A1 0 genome.wustl.edu 37 10 94834968 94834968 + Silent SNP C C T TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 10 94834968 94834968 C T SNP CYP26A1 ENST00000224356 human ensembl 69_37n +1 known silent c.768 p.C256 0.001 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP26A1 HGNC ENSG00000095596 15 0 0.00 5 23 82.14 - - - CYP4A11 0 genome.wustl.edu 37 1 47407052 47407052 + Silent SNP G G T TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 1 47407052 47407052 G T SNP CYP4A11 ENST00000371904 human ensembl 69_37n -1 known silent c.54 p.I18 0.981 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A11 HGNC ENSG00000187048 167 0 0.00 160 18 10.11 - - - DOT1L 0 genome.wustl.edu 37 19 2220127 2220127 + Missense_Mutation SNP G G T TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 19 2220127 2220127 G T SNP DOT1L ENST00000440640 human ensembl 69_37n +1 novel missense c.2072 p.C691F 0.714 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DOT1L HGNC ENSG00000104885 15 0 0.00 3 5 62.50 - - - DPEP3 0 genome.wustl.edu 37 16 68010014 68010014 + Silent SNP G G C TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 16 68010014 68010014 G C SNP DPEP3 ENST00000268793 human ensembl 69_37n -1 known silent c.1287 p.V429 1.000 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP3 HGNC ENSG00000141096 267 0 0.00 26 66 71.74 - - - EHD2 0 genome.wustl.edu 37 19 48229232 48229232 + Missense_Mutation SNP C C G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 19 48229232 48229232 C G SNP EHD2 ENST00000263277 human ensembl 69_37n +1 known missense c.666 p.D222E 1.000 NULL pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD2 HGNC ENSG00000024422 155 0 0.00 43 12 21.82 - - - EIF4G2 0 genome.wustl.edu 37 11 10827548 10827548 + Missense_Mutation SNP G G A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 11 10827548 10827548 G A SNP EIF4G2 ENST00000339995 human ensembl 69_37n -1 known missense c.154 p.P52S 1.000 NULL pfam_MIF4G-like_typ-3,pfam_W2_domain,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_start_codon EIF4G2 HGNC ENSG00000110321 150 0 0.00 77 9 10.47 - - - ENTPD6 0 genome.wustl.edu 37 20 25198181 25198181 + Missense_Mutation SNP G G A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 20 25198181 25198181 G A SNP ENTPD6 ENST00000376652 human ensembl 69_37n +1 known missense c.842 p.R281Q 0.925 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD6 HGNC ENSG00000197586 100 0 0.00 28 16 36.36 - - - EPS8L1 0 genome.wustl.edu 37 19 55598981 55598981 + Nonstop_Mutation SNP G G C TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 19 55598981 55598981 G C SNP EPS8L1 ENST00000201647 human ensembl 69_37n +1 known nonstop c.2171 p.*724S 1.000 NULL pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L1 HGNC ENSG00000131037 106 0 0.00 39 10 20.41 - - - ERCC5 0 genome.wustl.edu 37 13 103506681 103506681 + Missense_Mutation SNP G G C TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 13 103506681 103506681 G C SNP ERCC5 ENST00000355739 human ensembl 69_37n +1 known missense c.424 p.D142H 1.000 tigrfam_XPGC_DNA_repair pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_DNA_repair,prints_XPGC_Rad_DNA_repair,tigrfam_XPGC_DNA_repair - no_errors ERCC5 HGNC ENSG00000134899 119 0 0.00 213 69 24.38 - - - EXTL3 0 genome.wustl.edu 37 8 28574385 28574386 + Frame_Shift_Ins INS - - C TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 8 28574385 28574386 - C INS EXTL3 ENST00000220562 human ensembl 69_37n +1 known frame_shift_ins c.809_810 p.H271fs 1.000:0.986 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL3 HGNC ENSG00000012232 92 0 0.00 138 134 49.26 - - - FAM41C 0 genome.wustl.edu 37 1 809839 809840 + RNA INS - - C TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 1 809839 809840 - C INS FAM41C ENST00000446136 human ensembl 69_37n -1 known rna NULL NULL 0.044:0.041 - - - no_errors FAM41C HGNC ENSG00000230368 33 0 0.00 24 13 35.14 - - - FANCD2 0 genome.wustl.edu 37 3 10107101 10107101 + Missense_Mutation SNP C C T TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 3 10107101 10107101 C T SNP FANCD2 ENST00000287647 human ensembl 69_37n +1 known missense c.2192 p.A731V 1.000 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 202 0 0.00 101 62 38.04 - - - FCAR 0 genome.wustl.edu 37 19 55399642 55399642 + Silent SNP C C G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 19 55399642 55399642 C G SNP FCAR ENST00000355524 human ensembl 69_37n +1 known silent c.630 p.A210 0.543 smart_Ig_sub smart_Ig_sub - no_errors FCAR HGNC ENSG00000186431 61 0 0.00 26 4 13.33 - - - FZD3 0 genome.wustl.edu 37 8 28413307 28413307 + Missense_Mutation SNP C C A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 8 28413307 28413307 C A SNP FZD3 ENST00000240093 human ensembl 69_37n +1 known missense c.1606 p.L536I 1.000 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,prints_Frizzled,pfscan_Frizzled_dom,pfscan_GPCR_2-like - no_errors FZD3 HGNC ENSG00000104290 102 0 0.00 117 15 11.36 - - - GABRR3 0 genome.wustl.edu 37 3 97731370 97731370 + Missense_Mutation SNP G G C TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 3 97731370 97731370 G C SNP GABRR3 ENST00000472788 human ensembl 69_37n -1 known missense c.348 p.D116E 1.000 NULL NULL - pseudogene GABRR3 HGNC ENSG00000183185 120 0 0.00 74 59 44.36 - - - GAS6 0 genome.wustl.edu 37 13 114542717 114542718 + Frame_Shift_Ins INS - - C TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 13 114542717 114542718 - C INS GAS6 ENST00000357389 human ensembl 69_37n -1 known frame_shift_ins c.450_449 p.R151fs 0.842:0.997 smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,superfamily_ConA-like_lec_gl,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 12 0 0.00 20 5 20.00 - - - GLA 0 genome.wustl.edu 37 X 100658891 100658891 + Missense_Mutation SNP C C G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 X 100658891 100658891 C G SNP GLA ENST00000218516 human ensembl 69_37n -1 known missense c.277 p.D93H 1.000 pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors GLA HGNC ENSG00000102393 159 0 0.00 163 20 10.93 - - - GNPNAT1 0 genome.wustl.edu 37 14 53251239 53251239 + Missense_Mutation SNP G G C TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 14 53251239 53251239 G C SNP GNPNAT1 ENST00000216410 human ensembl 69_37n -1 known missense c.130 p.L44V 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors GNPNAT1 HGNC ENSG00000100522 20 0 0.00 11 18 62.07 - - - HECW1 0 genome.wustl.edu 37 7 43548589 43548589 + Silent SNP G G A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 7 43548589 43548589 G A SNP HECW1 ENST00000395891 human ensembl 69_37n +1 known silent c.3888 p.S1296 0.585 superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC ENSG00000002746 180 0 0.00 203 32 13.56 - - - HEMGN 0 genome.wustl.edu 37 9 100689708 100689708 + Missense_Mutation SNP C C G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 9 100689708 100689708 C G SNP HEMGN ENST00000259456 human ensembl 69_37n -1 known missense c.1413 p.E471D 0.039 NULL NULL - no_errors HEMGN HGNC ENSG00000136929 46 0 0.00 25 53 67.95 - - - HIST2H2AC 0 genome.wustl.edu 37 1 149858596 149858596 + Silent SNP C C A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 1 149858596 149858596 C A SNP HIST2H2AC ENST00000331380 human ensembl 69_37n +1 known silent c.72 p.L24 0.863 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST2H2AC HGNC ENSG00000184260 126 0 0.00 136 20 12.82 - - - HPDL 0 genome.wustl.edu 37 1 45793708 45793708 + Missense_Mutation SNP G G C TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 1 45793708 45793708 G C SNP HPDL ENST00000334815 human ensembl 69_37n +1 known missense c.888 p.Q296H 0.956 pirsf_4OHPhenylPyrv_dOase pirsf_4OHPhenylPyrv_dOase - no_errors HPDL HGNC ENSG00000186603 87 0 0.00 36 9 20.00 - - - HSPG2 0 genome.wustl.edu 37 1 22179535 22179535 + Silent SNP G G T TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 1 22179535 22179535 G T SNP HSPG2 ENST00000374695 human ensembl 69_37n -1 known silent c.6468 p.I2156 1.000 pfam_Ig_I-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 12 0 0.00 5 8 61.54 - - - IFT122 0 genome.wustl.edu 37 3 129225321 129225321 + Missense_Mutation SNP C C G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 3 129225321 129225321 C G SNP IFT122 ENST00000296266 human ensembl 69_37n +1 known missense c.2873 p.A958G 0.956 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 136 0 0.00 77 17 18.09 - - - IP6K3 0 genome.wustl.edu 37 6 33693353 33693353 + Missense_Mutation SNP A A T TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 6 33693353 33693353 A T SNP IP6K3 ENST00000293756 human ensembl 69_37n -1 known missense c.630 p.H210Q 0.000 pfam_IPK pfam_IPK - no_errors IP6K3 HGNC ENSG00000161896 96 0 0.00 59 21 26.25 - - - KCNA5 0 genome.wustl.edu 37 12 5154568 5154568 + Missense_Mutation SNP G G T TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 12 5154568 5154568 G T SNP KCNA5 ENST00000252321 human ensembl 69_37n +1 known missense c.1255 p.G419W 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 74 0 0.00 70 40 36.36 - - - KRT222 0 genome.wustl.edu 37 17 38816255 38816255 + Missense_Mutation SNP C C G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 17 38816255 38816255 C G SNP KRT222 ENST00000394052 human ensembl 69_37n -1 known missense c.430 p.E144Q 1.000 pfam_F pfam_F,prints_Keratin_I - no_errors KRT222 HGNC ENSG00000213424 128 1 0.78 89 147 61.51 - - - LAMA4 0 genome.wustl.edu 37 6 112437070 112437070 + Missense_Mutation SNP C C A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 6 112437070 112437070 C A SNP LAMA4 ENST00000230538 human ensembl 69_37n -1 known missense c.5108 p.G1703V 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EGF-like,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 285 0 0.00 467 56 10.69 - - - LAMP2 0 genome.wustl.edu 37 X 119565295 119565295 + Silent SNP G G A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 X 119565295 119565295 G A SNP LAMP2 ENST00000200639 human ensembl 69_37n -1 known silent c.1116 p.D372 0.631 pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP2 HGNC ENSG00000005893 156 0 0.00 184 80 30.30 - - - LAPTM4B 0 genome.wustl.edu 37 8 98817648 98817648 + Nonsense_Mutation SNP C C G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 8 98817648 98817648 C G SNP LAPTM4B ENST00000445593 human ensembl 69_37n +1 known nonsense c.440 p.S147* 0.996 NULL pfam_LAPTM4/5 - no_errors LAPTM4B HGNC ENSG00000104341 175 0 0.00 128 37 22.42 - - - LARS 0 genome.wustl.edu 37 5 145539015 145539015 + Silent SNP C C T TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 5 145539015 145539015 C T SNP LARS ENST00000394434 human ensembl 69_37n -1 known silent c.726 p.P242 0.975 pfam_aa-tRNA-synth_Ia,tigrfam_Leu-tRNA-synth_Ia_arc/euk pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,tigrfam_Leu-tRNA-synth_Ia_arc/euk - no_errors LARS HGNC ENSG00000133706 77 0 0.00 68 14 17.07 - - - LCP1 0 genome.wustl.edu 37 13 46701779 46701779 + Missense_Mutation SNP T T A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 13 46701779 46701779 T A SNP LCP1 ENST00000323076 human ensembl 69_37n -1 known missense c.1831 p.M611L 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_EF-hand,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors LCP1 HGNC ENSG00000136167 289 0 0.00 175 29 14.22 - - - LRIF1 0 genome.wustl.edu 37 1 111492643 111492643 + Missense_Mutation SNP C C G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 1 111492643 111492643 C G SNP LRIF1 ENST00000369763 human ensembl 69_37n -1 known missense c.1699 p.D567H 0.922 NULL NULL - no_errors LRIF1 HGNC ENSG00000121931 206 0 0.00 286 41 12.50 - - - LRP1 0 genome.wustl.edu 37 12 57592310 57592310 + Missense_Mutation SNP C C T TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 12 57592310 57592310 C T SNP LRP1 ENST00000243077 human ensembl 69_37n +1 known missense c.9533 p.S3178F 0.996 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 12 0 0.00 1 6 85.71 - - - LSM4 0 genome.wustl.edu 37 19 18426844 18426844 + Frame_Shift_Del DEL T T - TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 19 18426844 18426844 T - DEL LSM4 ENST00000252816 human ensembl 69_37n -1 known frame_shift_del c.35 p.N12fs 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM4 HGNC ENSG00000130520 72 0 0.00 33 32 49.23 - - - MCM4 0 genome.wustl.edu 37 8 48887464 48887464 + Silent SNP G G A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 8 48887464 48887464 G A SNP MCM4 ENST00000262105 human ensembl 69_37n +1 known silent c.2307 p.L769 0.262 pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase - no_errors MCM4 HGNC ENSG00000104738 201 0 0.00 163 36 18.09 - - - MIR409 0 genome.wustl.edu 37 14 101531674 101531674 + RNA SNP C C G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 14 101531674 101531674 C G SNP MIR409 ENST00000362237 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors MIR409 HGNC ENSG00000199107 52 0 0.00 8 4 33.33 - - - MIR548AN 0 genome.wustl.edu 37 X 105883114 105883115 + RNA INS - - C TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 X 105883114 105883115 - C INS MIR548AN ENST00000408286 human ensembl 69_37n +1 known rna NULL NULL 0.050:0.054 - - - no_errors MIR548AN HGNC ENSG00000263515 23 0 0.00 9 4 30.77 - - - MMP17 0 genome.wustl.edu 37 12 132325312 132325313 + Frame_Shift_Ins INS - - T TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 12 132325312 132325313 - T INS MMP17 ENST00000360564 human ensembl 69_37n +1 known frame_shift_ins c.617_618 p.V207fs 0.994:0.372 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP17 HGNC ENSG00000198598 10 0 0.00 5 30 85.71 - - - MRPS30 0 genome.wustl.edu 37 5 44809572 44809573 + Frame_Shift_Ins INS - - A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 5 44809572 44809573 - A INS MRPS30 ENST00000507110 human ensembl 69_37n +1 known frame_shift_ins c.508_509 p.V171fs 0.031:0.041 pfam_Ribosomal_L37/S30 pfam_Ribosomal_L37/S30 - no_errors MRPS30 HGNC ENSG00000112996 10 0 0.00 16 15 48.39 - - - MYB 0 genome.wustl.edu 37 6 135520054 135520054 + Missense_Mutation SNP C C G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 6 135520054 135520054 C G SNP MYB ENST00000341911 human ensembl 69_37n +1 known missense c.1575 p.N525K 1.000 pfam_C-myb_C pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYB HGNC ENSG00000118513 61 0 0.00 60 12 16.67 - - - MYO5B 0 genome.wustl.edu 37 18 47500828 47500828 + Missense_Mutation SNP G G A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 18 47500828 47500828 G A SNP MYO5B ENST00000285039 human ensembl 69_37n -1 known missense c.1214 p.A405V 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 256 1 0.39 166 37 18.23 - - - NEDD4 0 genome.wustl.edu 37 15 56140722 56140723 + Frame_Shift_Ins INS - - C TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 15 56140722 56140723 - C INS NEDD4 ENST00000508342 human ensembl 69_37n -1 known frame_shift_ins c.2737_2736 p.H912fs 1.000:1.000 pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP - no_errors NEDD4 HGNC ENSG00000069869 103 0 0.00 140 133 48.72 - - - NLRP5 0 genome.wustl.edu 37 19 56565089 56565089 + Missense_Mutation SNP C C A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 19 56565089 56565089 C A SNP NLRP5 ENST00000390649 human ensembl 69_37n +1 known missense c.3214 p.L1072I 0.267 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 114 0 0.00 43 12 21.82 - - - NOTCH2 0 genome.wustl.edu 37 1 120458455 120458455 + Frame_Shift_Del DEL G G - TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 1 120458455 120458455 G - DEL NOTCH2 ENST00000256646 human ensembl 69_37n -1 known frame_shift_del c.6890 p.P2297fs 0.252 pirsf_Notch,prints_Notch_2 pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 171 0 0.00 67 64 47.06 - - - OR10V1 0 genome.wustl.edu 37 11 59481034 59481034 + Missense_Mutation SNP G G C TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 11 59481034 59481034 G C SNP OR10V1 ENST00000307552 human ensembl 69_37n -1 known missense c.285 p.I95M 0.003 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR10V1 HGNC ENSG00000172289 141 0 0.00 157 47 23.04 - - - PDE4C 0 genome.wustl.edu 37 19 18322580 18322580 + Missense_Mutation SNP C C G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 19 18322580 18322580 C G SNP PDE4C ENST00000355502 human ensembl 69_37n -1 known missense c.1780 p.E594Q 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4C HGNC ENSG00000105650 103 0 0.00 41 11 21.15 - - - PGLYRP3 0 genome.wustl.edu 37 1 153271673 153271673 + Missense_Mutation SNP C C T TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 1 153271673 153271673 C T SNP PGLYRP3 ENST00000290722 human ensembl 69_37n -1 known missense c.763 p.G255R 1.000 pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP3 HGNC ENSG00000159527 347 0 0.00 308 109 26.08 - - - PIAS4 0 genome.wustl.edu 37 19 4013263 4013263 + Missense_Mutation SNP G G A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 19 4013263 4013263 G A SNP PIAS4 ENST00000262971 human ensembl 69_37n +1 known missense c.370 p.A124T 0.475 NULL pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd - no_errors PIAS4 HGNC ENSG00000105229 24 0 0.00 17 8 32.00 - - - PLK2 0 genome.wustl.edu 37 5 57750425 57750425 + Missense_Mutation SNP T T A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 5 57750425 57750425 T A SNP PLK2 ENST00000274289 human ensembl 69_37n -1 known missense c.2043 p.L681F 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK2 HGNC ENSG00000145632 101 0 0.00 54 24 30.77 - - - PRTG 0 genome.wustl.edu 37 15 56032653 56032653 + Missense_Mutation SNP T T A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 15 56032653 56032653 T A SNP PRTG ENST00000389286 human ensembl 69_37n -1 known missense c.324 p.E108D 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors PRTG HGNC ENSG00000166450 354 0 0.00 200 98 32.89 - - - PSMD3 0 genome.wustl.edu 37 17 38140605 38140605 + Silent SNP C C T TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 17 38140605 38140605 C T SNP PSMD3 ENST00000264639 human ensembl 69_37n +1 known silent c.279 p.F93 0.835 NULL pfam_26S_Psome_reg_C,pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors PSMD3 HGNC ENSG00000108344 111 0 0.00 42 7 14.29 - - - RAP2B 0 genome.wustl.edu 37 3 152880727 152880727 + Missense_Mutation SNP A A G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 3 152880727 152880727 A G SNP RAP2B ENST00000323534 human ensembl 69_37n +1 known missense c.245 p.Y82C 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP2B HGNC ENSG00000181467 27 0 0.00 22 6 21.43 - - - RP1 0 genome.wustl.edu 37 8 55537315 55537315 + Missense_Mutation SNP C C A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 8 55537315 55537315 C A SNP RP1 ENST00000220676 human ensembl 69_37n +1 known missense c.873 p.D291E 0.051 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 71 0 0.00 69 20 22.47 - - - RPL4 0 genome.wustl.edu 37 15 66794137 66794137 + Missense_Mutation SNP C C G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 15 66794137 66794137 C G SNP RPL4 ENST00000307961 human ensembl 69_37n -1 known missense c.535 p.D179H 1.000 pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom - no_errors RPL4 HGNC ENSG00000174444 120 0 0.00 47 63 57.27 - - - RSPH9 0 genome.wustl.edu 37 6 43624412 43624412 + Missense_Mutation SNP G G A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 6 43624412 43624412 G A SNP RSPH9 ENST00000372165 human ensembl 69_37n +1 known missense c.577 p.D193N 1.000 NULL NULL - no_errors RSPH9 HGNC ENSG00000172426 518 0 0.00 197 132 40.12 - - - SEC14L5 0 genome.wustl.edu 37 16 5009367 5009367 + Missense_Mutation SNP C C T TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 16 5009367 5009367 C T SNP SEC14L5 ENST00000251170 human ensembl 69_37n +1 known missense c.43 p.P15S 0.999 pfscan_PRELI/MSF1 pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran - no_errors SEC14L5 HGNC ENSG00000103184 159 0 0.00 16 25 60.98 - - - SLC13A1 0 genome.wustl.edu 37 7 122759197 122759197 + Missense_Mutation SNP A A T TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 7 122759197 122759197 A T SNP SLC13A1 ENST00000194130 human ensembl 69_37n -1 known missense c.1450 p.L484I 0.999 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC ENSG00000081800 47 0 0.00 129 27 17.31 - - - SLC2A10 0 genome.wustl.edu 37 20 45354529 45354529 + Missense_Mutation SNP T T C TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 20 45354529 45354529 T C SNP SLC2A10 ENST00000359271 human ensembl 69_37n +1 known missense c.854 p.L285P 0.031 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A10 HGNC ENSG00000197496 167 0 0.00 67 12 15.19 - - - SLC2A3 0 genome.wustl.edu 37 12 8077007 8077007 + Missense_Mutation SNP T T C TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 12 8077007 8077007 T C SNP SLC2A3 ENST00000075120 human ensembl 69_37n -1 known missense c.1067 p.K356R 0.994 pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A3 HGNC ENSG00000059804 245 0 0.00 282 59 17.30 - - - SLCO2A1 0 genome.wustl.edu 37 3 133661572 133661572 + Nonsense_Mutation SNP G G T TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 3 133661572 133661572 G T SNP SLCO2A1 ENST00000310926 human ensembl 69_37n -1 known nonsense c.1502 p.S501* 0.295 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC ENSG00000174640 64 0 0.00 24 28 53.85 - - - SLCO2A1 0 genome.wustl.edu 37 3 133667494 133667494 + Missense_Mutation SNP C C G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 3 133667494 133667494 C G SNP SLCO2A1 ENST00000310926 human ensembl 69_37n -1 known missense c.991 p.V331L 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC ENSG00000174640 169 0 0.00 82 10 10.87 - - - SP6 0 genome.wustl.edu 37 17 45925604 45925604 + Silent SNP C C G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 17 45925604 45925604 C G SNP SP6 ENST00000342234 human ensembl 69_37n -1 known silent c.192 p.S64 0.005 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP6 HGNC ENSG00000189120 14 0 0.00 6 5 45.45 - - - STEAP4 0 genome.wustl.edu 37 7 87910332 87910332 + Silent SNP C C G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 7 87910332 87910332 C G SNP STEAP4 ENST00000380079 human ensembl 69_37n -1 known silent c.1047 p.V349 0.002 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom,pfam_NADP_OxRdtase_F420 - no_errors STEAP4 HGNC ENSG00000127954 66 0 0.00 153 35 18.62 - - - STK10 0 genome.wustl.edu 37 5 171520913 171520913 + Missense_Mutation SNP T T A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 5 171520913 171520913 T A SNP STK10 ENST00000176763 human ensembl 69_37n -1 known missense c.1057 p.N353Y 0.000 superfamily_Kinase-like_dom pfam_PKK,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 - no_errors STK10 HGNC ENSG00000072786 68 0 0.00 31 9 22.50 - - - SWT1 0 genome.wustl.edu 37 1 185135759 185135759 + Nonsense_Mutation SNP C C A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 1 185135759 185135759 C A SNP SWT1 ENST00000367500 human ensembl 69_37n +1 known nonsense c.140 p.S47* 0.007 NULL smart_PINc_nuc-bd - no_errors SWT1 HGNC ENSG00000116668 138 0 0.00 199 32 13.73 - - - SWT1 0 genome.wustl.edu 37 1 185153935 185153935 + Missense_Mutation SNP A A T TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 1 185153935 185153935 A T SNP SWT1 ENST00000367500 human ensembl 69_37n +1 known missense c.1301 p.K434M 0.999 smart_PINc_nuc-bd smart_PINc_nuc-bd - no_errors SWT1 HGNC ENSG00000116668 74 0 0.00 362 43 10.62 - - - TGFB3 0 genome.wustl.edu 37 14 76437505 76437505 + Missense_Mutation SNP C C T TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 14 76437505 76437505 C T SNP TGFB3 ENST00000238682 human ensembl 69_37n -1 known missense c.610 p.V204I 1.000 pfam_TGF-b_N,pirsf_TGF-beta,prints_TGF-beta pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_Transform_grow_fac_b3,prints_TGF-beta - no_errors TGFB3 HGNC ENSG00000119699 115 1 0.85 23 21 47.73 - - - TP53 0 genome.wustl.edu 37 17 7577031 7577031 + Frame_Shift_Del DEL T T - TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 17 7577031 7577031 T - DEL TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_del c.907 p.S303fs 1.000 NULL 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 269 0 0.00 45 52 49.52 - - - TRIM51 0 genome.wustl.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 11 55653610 55653610 A - DEL TRIM51 ENST00000449290 human ensembl 69_37n +1 known frame_shift_del c.423 p.M144fs 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 71 0 0.00 117 17 12.32 - - - TRIM67 0 genome.wustl.edu 37 1 231344720 231344720 + Missense_Mutation SNP C C G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 1 231344720 231344720 C G SNP TRIM67 ENST00000366652 human ensembl 69_37n +1 known missense c.1847 p.S616C 1.000 superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM67 HGNC ENSG00000119283 150 0 0.00 75 37 33.04 - - - TRPV6 0 genome.wustl.edu 37 7 142573589 142573589 + Silent SNP G G C TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 7 142573589 142573589 G C SNP TRPV6 ENST00000359396 human ensembl 69_37n -1 known silent c.831 p.L277 0.901 tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC ENSG00000165125 198 0 0.00 114 36 24.00 - - - TRRAP 0 genome.wustl.edu 37 7 98528369 98528369 + Missense_Mutation SNP G G A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 7 98528369 98528369 G A SNP TRRAP ENST00000456197 human ensembl 69_37n +1 novel missense c.2651 p.S884N 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TRRAP HGNC ENSG00000196367 200 0 0.00 67 80 54.05 - - - TSPEAR 0 genome.wustl.edu 37 21 45948407 45948407 + Missense_Mutation SNP G G T TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 21 45948407 45948407 G T SNP TSPEAR ENST00000323084 human ensembl 69_37n -1 known missense c.850 p.Q284K 1.000 NULL pfam_EPTP,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 52 0 0.00 42 9 17.65 - - - UBA7 0 genome.wustl.edu 37 3 49845531 49845531 + Missense_Mutation SNP G G T TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 3 49845531 49845531 G T SNP UBA7 ENST00000333486 human ensembl 69_37n -1 known missense c.2445 p.N815K 1.000 pfam_UBact_repeat,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA7 HGNC ENSG00000182179 28 0 0.00 20 4 16.67 - - - UTRN 0 genome.wustl.edu 37 6 144837401 144837401 + Missense_Mutation SNP G G T TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 6 144837401 144837401 G T SNP UTRN ENST00000367545 human ensembl 69_37n +1 known missense c.5281 p.V1761F 0.097 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 66 0 0.00 104 32 23.53 - - - VPS8 0 genome.wustl.edu 37 3 184577834 184577834 + Missense_Mutation SNP A A G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 3 184577834 184577834 A G SNP VPS8 ENST00000287546 human ensembl 69_37n +1 known missense c.1205 p.Y402C 1.000 superfamily_Quinonprotein_ADH-like superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC ENSG00000156931 66 0 0.00 59 34 36.56 - - - WNT8B 0 genome.wustl.edu 37 10 102239712 102239712 + Missense_Mutation SNP C C T TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 10 102239712 102239712 C T SNP WNT8B ENST00000343737 human ensembl 69_37n +1 known missense c.184 p.R62C 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8 - no_errors WNT8B HGNC ENSG00000075290 190 0 0.00 70 24 25.53 - - - ZC3HC1 0 genome.wustl.edu 37 7 129663533 129663533 + Nonsense_Mutation SNP G G A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 7 129663533 129663533 G A SNP ZC3HC1 ENST00000358303 human ensembl 69_37n -1 known nonsense c.1051 p.R351* 0.951 NULL pfam_Znf_C3HC-like,pfam_NIPA/Rsm1 - no_errors ZC3HC1 HGNC ENSG00000091732 76 0 0.00 70 41 36.94 - - - ZFP37 0 genome.wustl.edu 37 9 115818872 115818872 + Missense_Mutation SNP C C G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 9 115818872 115818872 C G SNP ZFP37 ENST00000553380 human ensembl 69_37n -1 known missense c.97 p.E33Q 0.716 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 ZFP37 HGNC ENSG00000136866 200 0 0.00 91 11 10.78 - - - ZNF526 0 genome.wustl.edu 37 19 42730170 42730170 + Missense_Mutation SNP C C G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 19 42730170 42730170 C G SNP ZNF526 ENST00000301215 human ensembl 69_37n +1 known missense c.1615 p.Q539E 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF526 HGNC ENSG00000167625 86 0 0.00 31 11 26.19 - - - ZNF714 0 genome.wustl.edu 37 19 21299680 21299680 + Silent SNP G G C TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db2bd5cf-f0a7-4874-89eb-15029447dae1 21d6d4ec-23c7-470d-8654-59d20f56c9a6 19 21299680 21299680 G C SNP ZNF714 ENST00000291770 human ensembl 69_37n +1 known silent c.210 p.V70 0.006 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF714 HGNC ENSG00000160352 143 0 0.00 111 89 44.50 - - -