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 ABCA9 0 genome.wustl.edu 37 17 66982401 66982401 + Missense_Mutation SNP T T C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 17 66982401 66982401 T C SNP ABCA9 ENST00000340001 human ensembl 69_37n -1 known missense c.4112 p.N1371S 0.985 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 205 0 0.00 247 137 35.68 - - - ABCA9 0 genome.wustl.edu 37 17 66982401 66982401 + Missense_Mutation SNP T T C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 17 66982401 66982401 T C SNP ABCA9 ENST00000340001 human ensembl 69_37n -1 known missense c.4112 p.N1371S 0.985 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 399 0 0.00 247 137 35.68 - - - ACSM3 0 genome.wustl.edu 37 16 20788842 20788842 + Missense_Mutation SNP C C T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 16 20788842 20788842 C T SNP ACSM3 ENST00000289416 human ensembl 69_37n +1 known missense c.578 p.S193F 0.750 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM3 HGNC ENSG00000005187 53 0 0.00 91 18 16.51 - - - ACSM3 0 genome.wustl.edu 37 16 20788842 20788842 + Missense_Mutation SNP C C T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 16 20788842 20788842 C T SNP ACSM3 ENST00000289416 human ensembl 69_37n +1 known missense c.578 p.S193F 0.750 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM3 HGNC ENSG00000005187 129 0 0.00 91 18 16.51 - - - AKAP3 0 genome.wustl.edu 37 12 4747364 4747364 + Splice_Site SNP T T G TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 12 4747364 4747364 T G SNP AKAP3 ENST00000228850 human ensembl 69_37n -1 known splice_site c.1-2 e1-2 0.985 - - - no_errors AKAP3 HGNC ENSG00000111254 189 0 0.00 252 69 21.50 - - - AKAP3 0 genome.wustl.edu 37 12 4747364 4747364 + Splice_Site SNP T T G TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 12 4747364 4747364 T G SNP AKAP3 ENST00000228850 human ensembl 69_37n -1 known splice_site c.1-2 e1-2 0.985 - - - no_errors AKAP3 HGNC ENSG00000111254 413 1 0.24 252 69 21.50 - - - ALG5 0 genome.wustl.edu 37 13 37569662 37569662 + Missense_Mutation SNP G G T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 13 37569662 37569662 G T SNP ALG5 ENST00000239891 human ensembl 69_37n -1 known missense c.138 p.F46L 0.974 NULL pfam_Glyco_trans_2 - no_errors ALG5 HGNC ENSG00000120697 102 0 0.00 55 20 26.67 - - - ALG5 0 genome.wustl.edu 37 13 37569662 37569662 + Missense_Mutation SNP G G T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 13 37569662 37569662 G T SNP ALG5 ENST00000239891 human ensembl 69_37n -1 known missense c.138 p.F46L 0.974 NULL pfam_Glyco_trans_2 - no_errors ALG5 HGNC ENSG00000120697 66 0 0.00 55 20 26.67 - - - AMZ2 0 genome.wustl.edu 37 17 66246405 66246405 + Missense_Mutation SNP A A G TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 17 66246405 66246405 A G SNP AMZ2 ENST00000359904 human ensembl 69_37n +1 known missense c.77 p.Y26C 0.993 NULL pfam_Pept_M54_archaemetzincn - no_errors AMZ2 HGNC ENSG00000196704 257 0 0.00 179 24 11.82 - - - AMZ2 0 genome.wustl.edu 37 17 66246405 66246405 + Missense_Mutation SNP A A G TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 17 66246405 66246405 A G SNP AMZ2 ENST00000359904 human ensembl 69_37n +1 known missense c.77 p.Y26C 0.993 NULL pfam_Pept_M54_archaemetzincn - no_errors AMZ2 HGNC ENSG00000196704 175 0 0.00 179 24 11.82 - - - ANKRD20A4 0 genome.wustl.edu 37 9 69385951 69385951 + Missense_Mutation SNP G G A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 9 69385951 69385951 G A SNP ANKRD20A4 ENST00000357336 human ensembl 69_37n +1 known missense c.388 p.D130N 0.161 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ENSG00000172014 40 0 0.00 51 20 28.17 - - - ANKRD20A4 0 genome.wustl.edu 37 9 69385951 69385951 + Missense_Mutation SNP G G A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 9 69385951 69385951 G A SNP ANKRD20A4 ENST00000357336 human ensembl 69_37n +1 known missense c.388 p.D130N 0.161 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ENSG00000172014 127 0 0.00 51 20 28.17 - - - ARHGAP35 0 genome.wustl.edu 37 19 47503649 47503649 + Missense_Mutation SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 19 47503649 47503649 C A SNP ARHGAP35 ENST00000404338 human ensembl 69_37n +1 known missense c.4204 p.P1402T 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 463 0 0.00 60 20 25.00 - - - ARL17B 0 genome.wustl.edu 37 17 44430254 44430254 + Missense_Mutation SNP G G C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 17 44430254 44430254 G C SNP ARL17B ENST00000450673 human ensembl 69_37n -1 known missense c.191 p.A64G 1.000 pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR - no_errors ARL17B HGNC ENSG00000228696 9 0 0.00 51 25 32.89 - - - ATOH1 0 genome.wustl.edu 37 4 94750648 94750648 + Missense_Mutation SNP A A C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 4 94750648 94750648 A C SNP ATOH1 ENST00000306011 human ensembl 69_37n +1 known missense c.571 p.N191H 1.000 pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors ATOH1 HGNC ENSG00000172238 50 0 0.00 45 9 16.67 - - - ATOH1 0 genome.wustl.edu 37 4 94750648 94750648 + Missense_Mutation SNP A A C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 4 94750648 94750648 A C SNP ATOH1 ENST00000306011 human ensembl 69_37n +1 known missense c.571 p.N191H 1.000 pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors ATOH1 HGNC ENSG00000172238 81 0 0.00 45 9 16.67 - - - BCL9L 0 genome.wustl.edu 37 11 118770742 118770742 + Missense_Mutation SNP G G C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 11 118770742 118770742 G C SNP BCL9L ENST00000334801 human ensembl 69_37n -1 known missense c.3290 p.P1097R 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 26 0 0.00 19 5 20.83 - - - BCL9L 0 genome.wustl.edu 37 11 118770742 118770742 + Missense_Mutation SNP G G C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 11 118770742 118770742 G C SNP BCL9L ENST00000334801 human ensembl 69_37n -1 known missense c.3290 p.P1097R 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 96 0 0.00 19 5 20.83 - - - C5orf54 0 genome.wustl.edu 37 5 159822112 159822112 + Missense_Mutation SNP C C T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 5 159822112 159822112 C T SNP C5orf54 ENST00000408953 human ensembl 69_37n -1 known missense c.386 p.G129E 1.000 NULL superfamily_RNaseH-like_dom - no_errors C5orf54 HGNC ENSG00000221886 111 0 0.00 134 35 20.71 - - - C5orf54 0 genome.wustl.edu 37 5 159822112 159822112 + Missense_Mutation SNP C C T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 5 159822112 159822112 C T SNP C5orf54 ENST00000408953 human ensembl 69_37n -1 known missense c.386 p.G129E 1.000 NULL superfamily_RNaseH-like_dom - no_errors C5orf54 HGNC ENSG00000221886 131 0 0.00 134 35 20.71 - - - C6orf170 0 genome.wustl.edu 37 6 121481215 121481215 + Missense_Mutation SNP G G A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 6 121481215 121481215 G A SNP C6orf170 ENST00000275159 human ensembl 69_37n -1 putative missense c.2837 p.S946L 1.000 NULL superfamily_Rab-GTPase-TBC_dom - no_errors C6orf170 HGNC ENSG00000146350 99 0 0.00 148 25 14.37 - - - C6orf170 0 genome.wustl.edu 37 6 121481215 121481215 + Missense_Mutation SNP G G A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 6 121481215 121481215 G A SNP C6orf170 ENST00000275159 human ensembl 69_37n -1 putative missense c.2837 p.S946L 1.000 NULL superfamily_Rab-GTPase-TBC_dom - no_errors C6orf170 HGNC ENSG00000146350 117 0 0.00 148 25 14.37 - - - CAMK2D 0 genome.wustl.edu 37 4 114438800 114438800 + Nonsense_Mutation SNP A A T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 4 114438800 114438800 A T SNP CAMK2D ENST00000454265 human ensembl 69_37n -1 known nonsense c.615 p.Y205* 0.992 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_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2D HGNC ENSG00000145349 131 0 0.00 196 42 17.65 - - - CAMK2D 0 genome.wustl.edu 37 4 114438800 114438800 + Nonsense_Mutation SNP A A T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 4 114438800 114438800 A T SNP CAMK2D ENST00000454265 human ensembl 69_37n -1 known nonsense c.615 p.Y205* 0.992 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_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2D HGNC ENSG00000145349 169 0 0.00 196 42 17.65 - - - CCDC110 0 genome.wustl.edu 37 4 186379415 186379415 + Missense_Mutation SNP C C T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 4 186379415 186379415 C T SNP CCDC110 ENST00000307588 human ensembl 69_37n -1 known missense c.2326 p.D776N 0.801 superfamily_4_helix_cytokine-like_core superfamily_4_helix_cytokine-like_core - no_errors CCDC110 HGNC ENSG00000168491 125 0 0.00 60 18 23.08 - - - CCDC110 0 genome.wustl.edu 37 4 186379415 186379415 + Missense_Mutation SNP C C T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 4 186379415 186379415 C T SNP CCDC110 ENST00000307588 human ensembl 69_37n -1 known missense c.2326 p.D776N 0.801 superfamily_4_helix_cytokine-like_core superfamily_4_helix_cytokine-like_core - no_errors CCDC110 HGNC ENSG00000168491 56 0 0.00 60 18 23.08 - - - CCDC27 0 genome.wustl.edu 37 1 3672038 3672038 + Missense_Mutation SNP G G A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 1 3672038 3672038 G A SNP CCDC27 ENST00000294600 human ensembl 69_37n +1 known missense c.460 p.D154N 0.000 NULL superfamily_Prefoldin - no_errors CCDC27 HGNC ENSG00000162592 101 0 0.00 121 41 25.15 - - - CCDC27 0 genome.wustl.edu 37 1 3672038 3672038 + Missense_Mutation SNP G G A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 1 3672038 3672038 G A SNP CCDC27 ENST00000294600 human ensembl 69_37n +1 known missense c.460 p.D154N 0.000 NULL superfamily_Prefoldin - no_errors CCDC27 HGNC ENSG00000162592 226 0 0.00 121 41 25.15 - - - CKAP2 0 genome.wustl.edu 37 13 53035596 53035596 + Missense_Mutation SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 13 53035596 53035596 C A SNP CKAP2 ENST00000378037 human ensembl 69_37n +1 known missense c.638 p.P213H 0.024 NULL NULL - no_errors CKAP2 HGNC ENSG00000136108 167 0 0.00 73 11 13.10 - - - CKAP2 0 genome.wustl.edu 37 13 53035596 53035596 + Missense_Mutation SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 13 53035596 53035596 C A SNP CKAP2 ENST00000378037 human ensembl 69_37n +1 known missense c.638 p.P213H 0.024 NULL NULL - no_errors CKAP2 HGNC ENSG00000136108 77 0 0.00 73 11 13.10 - - - COL4A1 0 genome.wustl.edu 37 13 110847369 110847369 + Splice_Site SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 13 110847369 110847369 C A SNP COL4A1 ENST00000375820 human ensembl 69_37n -1 known splice_site c.1381+1 e22+1 1.000 - - - no_errors COL4A1 HGNC ENSG00000187498 61 0 0.00 48 10 16.95 - - - COL4A1 0 genome.wustl.edu 37 13 110847369 110847369 + Splice_Site SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 13 110847369 110847369 C A SNP COL4A1 ENST00000375820 human ensembl 69_37n -1 known splice_site c.1381+1 e22+1 1.000 - - - no_errors COL4A1 HGNC ENSG00000187498 34 0 0.00 48 10 16.95 - - - CREB3L2 0 genome.wustl.edu 37 7 137600703 137600703 + Missense_Mutation SNP G G C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 7 137600703 137600703 G C SNP CREB3L2 ENST00000330387 human ensembl 69_37n -1 known missense c.375 p.I125M 1.000 NULL pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L2 HGNC ENSG00000182158 63 0 0.00 65 8 10.96 - - - CREB3L2 0 genome.wustl.edu 37 7 137600703 137600703 + Missense_Mutation SNP G G C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 7 137600703 137600703 G C SNP CREB3L2 ENST00000330387 human ensembl 69_37n -1 known missense c.375 p.I125M 1.000 NULL pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L2 HGNC ENSG00000182158 113 0 0.00 65 8 10.96 - - - ERO1L 0 genome.wustl.edu 37 14 53119001 53119001 + Missense_Mutation SNP T T C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 14 53119001 53119001 T C SNP ERO1L ENST00000395686 human ensembl 69_37n -1 known missense c.1081 p.N361D 1.000 pfam_ER_oxidoreductin-1,superfamily_ER_oxidoreductin-1,pirsf_ER_oxidoreductin-1 pfam_ER_oxidoreductin-1,superfamily_ER_oxidoreductin-1,pirsf_ER_oxidoreductin-1 - no_errors ERO1L HGNC ENSG00000197930 72 0 0.00 102 13 11.30 - - - ERO1L 0 genome.wustl.edu 37 14 53119001 53119001 + Missense_Mutation SNP T T C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 14 53119001 53119001 T C SNP ERO1L ENST00000395686 human ensembl 69_37n -1 known missense c.1081 p.N361D 1.000 pfam_ER_oxidoreductin-1,superfamily_ER_oxidoreductin-1,pirsf_ER_oxidoreductin-1 pfam_ER_oxidoreductin-1,superfamily_ER_oxidoreductin-1,pirsf_ER_oxidoreductin-1 - no_errors ERO1L HGNC ENSG00000197930 79 0 0.00 102 13 11.30 - - - EYA4 0 genome.wustl.edu 37 6 133777745 133777745 + Missense_Mutation SNP C C T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 6 133777745 133777745 C T SNP EYA4 ENST00000355167 human ensembl 69_37n +1 known missense c.329 p.A110V 1.000 NULL pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 223 0 0.00 276 49 15.08 - - - EYA4 0 genome.wustl.edu 37 6 133777745 133777745 + Missense_Mutation SNP C C T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 6 133777745 133777745 C T SNP EYA4 ENST00000355167 human ensembl 69_37n +1 known missense c.329 p.A110V 1.000 NULL pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 411 0 0.00 276 49 15.08 - - - FBXO40 0 genome.wustl.edu 37 3 121340395 121340395 + Missense_Mutation SNP T T G TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 3 121340395 121340395 T G SNP FBXO40 ENST00000338040 human ensembl 69_37n +1 known missense c.119 p.L40R 0.780 superfamily_TRAF-like superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF - no_errors FBXO40 HGNC ENSG00000163833 183 0 0.00 80 15 15.62 - - - FBXO40 0 genome.wustl.edu 37 3 121340395 121340395 + Missense_Mutation SNP T T G TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 3 121340395 121340395 T G SNP FBXO40 ENST00000338040 human ensembl 69_37n +1 known missense c.119 p.L40R 0.780 superfamily_TRAF-like superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF - no_errors FBXO40 HGNC ENSG00000163833 179 0 0.00 80 15 15.62 - - - FBXO5 0 genome.wustl.edu 37 6 153293436 153293436 + Missense_Mutation SNP T T G TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 6 153293436 153293436 T G SNP FBXO5 ENST00000229758 human ensembl 69_37n -1 known missense c.1063 p.T355P 0.058 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like - no_errors FBXO5 HGNC ENSG00000112029 83 0 0.00 119 15 11.03 - - - FBXO5 0 genome.wustl.edu 37 6 153293436 153293436 + Missense_Mutation SNP T T G TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 6 153293436 153293436 T G SNP FBXO5 ENST00000229758 human ensembl 69_37n -1 known missense c.1063 p.T355P 0.058 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like - no_errors FBXO5 HGNC ENSG00000112029 68 0 0.00 119 15 11.03 - - - FCGBP 0 genome.wustl.edu 37 19 40377034 40377034 + Silent SNP G G A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 19 40377034 40377034 G A SNP FCGBP ENST00000221347 human ensembl 69_37n -1 known silent c.11388 p.N3796 0.470 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 19 0 0.00 12 9 40.91 - - - FERD3L 0 genome.wustl.edu 37 7 19184943 19184943 + Missense_Mutation SNP C C G TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 7 19184943 19184943 C G SNP FERD3L ENST00000275461 human ensembl 69_37n -1 known missense c.43 p.D15H 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors FERD3L HGNC ENSG00000146618 17 0 0.00 32 16 33.33 - - - FERD3L 0 genome.wustl.edu 37 7 19184943 19184943 + Missense_Mutation SNP C C G TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 7 19184943 19184943 C G SNP FERD3L ENST00000275461 human ensembl 69_37n -1 known missense c.43 p.D15H 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors FERD3L HGNC ENSG00000146618 60 0 0.00 32 16 33.33 - - - FRG1B 0 genome.wustl.edu 37 20 29614296 29614297 + RNA INS - - AGA TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 20 29614296 29614297 - AGA INS FRG1B ENST00000482423 human ensembl 69_37n +1 known rna NULL NULL 0.998:0.997 - - - no_errors FRG1B HGNC ENSG00000149531 65 0 0.00 109 18 14.17 - - - FRMD4A 0 genome.wustl.edu 37 10 13804668 13804668 + Missense_Mutation SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 10 13804668 13804668 C A SNP FRMD4A ENST00000357447 human ensembl 69_37n -1 known missense c.397 p.V133F 0.985 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 178 1 0.56 55 10 15.38 - - - FRMD4A 0 genome.wustl.edu 37 10 13804668 13804668 + Missense_Mutation SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 10 13804668 13804668 C A SNP FRMD4A ENST00000357447 human ensembl 69_37n -1 known missense c.397 p.V133F 0.985 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 77 0 0.00 55 10 15.38 - - - FSCB 0 genome.wustl.edu 37 14 44974189 44974189 + Missense_Mutation SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 14 44974189 44974189 C A SNP FSCB ENST00000340446 human ensembl 69_37n -1 known missense c.2002 p.A668S 0.000 NULL NULL - no_errors FSCB HGNC ENSG00000189139 14 0 0.00 31 8 20.51 - - - GLUD2 0 genome.wustl.edu 37 X 120182736 120182736 + Missense_Mutation SNP A A G TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 X 120182736 120182736 A G SNP GLUD2 ENST00000328078 human ensembl 69_37n +1 known missense c.1198 p.I400V 1.000 pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 261 0 0.00 110 52 32.10 - - - GLUD2 0 genome.wustl.edu 37 X 120182736 120182736 + Missense_Mutation SNP A A G TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 X 120182736 120182736 A G SNP GLUD2 ENST00000328078 human ensembl 69_37n +1 known missense c.1198 p.I400V 1.000 pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 334 0 0.00 110 52 32.10 - - - GOLGA8DP 0 genome.wustl.edu 37 15 22709040 22709040 + RNA SNP T T C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 15 22709040 22709040 T C SNP GOLGA8DP ENST00000314246 human ensembl 69_37n -1 known rna NULL NULL 0.999 - - - no_errors GOLGA8DP HGNC ENSG00000185182 12 0 0.00 21 13 38.24 - - - GPAM 0 genome.wustl.edu 37 10 113915699 113915699 + Missense_Mutation SNP G G T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 10 113915699 113915699 G T SNP GPAM ENST00000348367 human ensembl 69_37n -1 known missense c.2234 p.P745H 0.989 NULL pfam_Acyltransferase,smart_Acyltransferase - no_errors GPAM HGNC ENSG00000119927 134 0 0.00 137 40 22.60 - - - GPAM 0 genome.wustl.edu 37 10 113915699 113915699 + Missense_Mutation SNP G G T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 10 113915699 113915699 G T SNP GPAM ENST00000348367 human ensembl 69_37n -1 known missense c.2234 p.P745H 0.989 NULL pfam_Acyltransferase,smart_Acyltransferase - no_errors GPAM HGNC ENSG00000119927 214 0 0.00 137 40 22.60 - - - GRIK3 0 genome.wustl.edu 37 1 37307422 37307422 + Missense_Mutation SNP T T A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 1 37307422 37307422 T A SNP GRIK3 ENST00000373091 human ensembl 69_37n -1 known missense c.1445 p.E482V 1.000 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 104 0 0.00 105 12 10.17 - - - GRIK3 0 genome.wustl.edu 37 1 37307422 37307422 + Missense_Mutation SNP T T A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 1 37307422 37307422 T A SNP GRIK3 ENST00000373091 human ensembl 69_37n -1 known missense c.1445 p.E482V 1.000 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 220 0 0.00 105 12 10.17 - - - HHAT 0 genome.wustl.edu 37 1 210573999 210573999 + Missense_Mutation SNP A A C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 1 210573999 210573999 A C SNP HHAT ENST00000391905 human ensembl 69_37n +1 known missense c.461 p.E154A 0.994 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors HHAT HGNC ENSG00000054392 55 0 0.00 72 21 22.58 - - - HHAT 0 genome.wustl.edu 37 1 210573999 210573999 + Missense_Mutation SNP A A C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 1 210573999 210573999 A C SNP HHAT ENST00000391905 human ensembl 69_37n +1 known missense c.461 p.E154A 0.994 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors HHAT HGNC ENSG00000054392 127 0 0.00 72 21 22.58 - - - ITGA11 0 genome.wustl.edu 37 15 68643690 68643690 + Missense_Mutation SNP A A G TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 15 68643690 68643690 A G SNP ITGA11 ENST00000315757 human ensembl 69_37n -1 known missense c.800 p.I267T 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ENSG00000137809 49 0 0.00 55 12 17.65 - - - ITGA11 0 genome.wustl.edu 37 15 68643690 68643690 + Missense_Mutation SNP A A G TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 15 68643690 68643690 A G SNP ITGA11 ENST00000315757 human ensembl 69_37n -1 known missense c.800 p.I267T 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ENSG00000137809 110 0 0.00 55 12 17.65 - - - KCNA1 0 genome.wustl.edu 37 12 5021590 5021590 + Missense_Mutation SNP C C T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 12 5021590 5021590 C T SNP KCNA1 ENST00000382545 human ensembl 69_37n +1 known missense c.1046 p.A349V 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 286 0 0.00 162 40 19.80 - - - KCNA1 0 genome.wustl.edu 37 12 5021590 5021590 + Missense_Mutation SNP C C T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 12 5021590 5021590 C T SNP KCNA1 ENST00000382545 human ensembl 69_37n +1 known missense c.1046 p.A349V 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 291 0 0.00 162 40 19.80 - - - KIAA1211 0 genome.wustl.edu 37 4 57180592 57180592 + Frame_Shift_Del DEL T T - TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 4 57180592 57180592 T - DEL KIAA1211 ENST00000504228 human ensembl 69_37n +1 known frame_shift_del c.924 p.E309fs 0.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 8 0 0.00 0 3 100.00 - - - LAMC2 0 genome.wustl.edu 37 1 183177174 183177174 + Missense_Mutation SNP C C T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 1 183177174 183177174 C T SNP LAMC2 ENST00000264144 human ensembl 69_37n +1 known missense c.238 p.R80C 0.991 superfamily_Growth_fac_rcpt,smart_EGF_laminin pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC ENSG00000058085 562 1 0.18 665 138 17.16 - - - LAMC2 0 genome.wustl.edu 37 1 183177174 183177174 + Missense_Mutation SNP C C T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 1 183177174 183177174 C T SNP LAMC2 ENST00000264144 human ensembl 69_37n +1 known missense c.238 p.R80C 0.991 superfamily_Growth_fac_rcpt,smart_EGF_laminin pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC ENSG00000058085 1269 0 0.00 665 138 17.16 - - - LIMS1 0 genome.wustl.edu 37 2 109293130 109293130 + Silent SNP A A G TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 2 109293130 109293130 A G SNP LIMS1 ENST00000542845 human ensembl 69_37n +1 known silent c.900 p.A300 0.000 pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM - no_errors LIMS1 HGNC ENSG00000169756 37 0 0.00 34 10 22.73 - - - MBTPS1 0 genome.wustl.edu 37 16 84088111 84088111 + Missense_Mutation SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 16 84088111 84088111 C A SNP MBTPS1 ENST00000343411 human ensembl 69_37n -1 known missense c.3102 p.R1034S 0.994 NULL pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 33 0 0.00 14 6 30.00 - - - MMP8 0 genome.wustl.edu 37 11 102589268 102589268 + Missense_Mutation SNP G G T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 11 102589268 102589268 G T SNP MMP8 ENST00000236826 human ensembl 69_37n -1 known missense c.661 p.H221N 1.000 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 MMP8 HGNC ENSG00000118113 103 0 0.00 69 16 18.82 - - - MMP8 0 genome.wustl.edu 37 11 102589268 102589268 + Missense_Mutation SNP G G T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 11 102589268 102589268 G T SNP MMP8 ENST00000236826 human ensembl 69_37n -1 known missense c.661 p.H221N 1.000 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 MMP8 HGNC ENSG00000118113 156 0 0.00 69 16 18.82 - - - MST1P9 0 genome.wustl.edu 37 1 17085452 17085452 + Silent SNP A A G TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 1 17085452 17085452 A G SNP MST1P9 ENST00000334998 human ensembl 69_37n -1 known silent c.1239 p.F413 0.995 superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors MST1P9 HGNC ENSG00000186715 37 0 0.00 78 10 11.36 - - - MUC16 0 genome.wustl.edu 37 19 9019327 9019327 + Silent SNP G G C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 19 9019327 9019327 G C SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known silent c.37560 p.S12520 0.091 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 232 0 0.00 217 26 10.70 - - - MUC16 0 genome.wustl.edu 37 19 9019327 9019327 + Silent SNP G G C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 19 9019327 9019327 G C SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known silent c.37560 p.S12520 0.091 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 262 0 0.00 217 26 10.70 - - - NSL1 0 genome.wustl.edu 37 1 212911865 212911865 + Missense_Mutation SNP G G C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 1 212911865 212911865 G C SNP NSL1 ENST00000366977 human ensembl 69_37n -1 known missense c.731 p.T244R 0.976 NULL pfam_Kinetochore_Mis14 - no_errors NSL1 HGNC ENSG00000117697 165 0 0.00 200 49 19.68 - - - NSL1 0 genome.wustl.edu 37 1 212911865 212911865 + Missense_Mutation SNP G G C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 1 212911865 212911865 G C SNP NSL1 ENST00000366977 human ensembl 69_37n -1 known missense c.731 p.T244R 0.976 NULL pfam_Kinetochore_Mis14 - no_errors NSL1 HGNC ENSG00000117697 131 0 0.00 200 49 19.68 - - - NUAK1 0 genome.wustl.edu 37 12 106461617 106461617 + Missense_Mutation SNP A A T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 12 106461617 106461617 A T SNP NUAK1 ENST00000261402 human ensembl 69_37n -1 known missense c.949 p.C317S 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NUAK1 HGNC ENSG00000074590 41 0 0.00 51 29 36.25 - - - NUAK1 0 genome.wustl.edu 37 12 106461617 106461617 + Missense_Mutation SNP A A T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 12 106461617 106461617 A T SNP NUAK1 ENST00000261402 human ensembl 69_37n -1 known missense c.949 p.C317S 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NUAK1 HGNC ENSG00000074590 80 0 0.00 51 29 36.25 - - - ODZ4 0 genome.wustl.edu 37 11 78423693 78423693 + Missense_Mutation SNP G G T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 11 78423693 78423693 G T SNP ODZ4 ENST00000278550 human ensembl 69_37n -1 known missense c.3888 p.D1296E 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors ODZ4 HGNC ENSG00000149256 155 0 0.00 111 39 26.00 - - - OR10C1 0 genome.wustl.edu 37 6 29407949 29407949 + Missense_Mutation SNP G G A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 6 29407949 29407949 G A SNP OR10C1 ENST00000444197 human ensembl 69_37n +1 known missense c.157 p.A53T 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10C1 HGNC ENSG00000206474 395 1 0.25 364 51 12.23 - - - OR10C1 0 genome.wustl.edu 37 6 29407949 29407949 + Missense_Mutation SNP G G A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 6 29407949 29407949 G A SNP OR10C1 ENST00000444197 human ensembl 69_37n +1 known missense c.157 p.A53T 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10C1 HGNC ENSG00000206474 727 0 0.00 364 51 12.23 - - - OR1L8 0 genome.wustl.edu 37 9 125329851 125329851 + Missense_Mutation SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 9 125329851 125329851 C A SNP OR1L8 ENST00000304865 human ensembl 69_37n -1 known missense c.906 p.R302S 0.147 pfam_7TM_GPCR_olfarory/Srsx pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR1L8 HGNC ENSG00000171496 135 0 0.00 161 64 28.44 - - - OR1L8 0 genome.wustl.edu 37 9 125329851 125329851 + Missense_Mutation SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 9 125329851 125329851 C A SNP OR1L8 ENST00000304865 human ensembl 69_37n -1 known missense c.906 p.R302S 0.147 pfam_7TM_GPCR_olfarory/Srsx pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR1L8 HGNC ENSG00000171496 200 0 0.00 161 64 28.44 - - - OR4N2 0 genome.wustl.edu 37 14 20296167 20296167 + Missense_Mutation SNP T T A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 14 20296167 20296167 T A SNP OR4N2 ENST00000315947 human ensembl 69_37n +1 known missense c.560 p.L187Q 1.000 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 OR4N2 HGNC ENSG00000176294 441 0 0.00 689 95 12.09 - - - OR4N2 0 genome.wustl.edu 37 14 20296167 20296167 + Missense_Mutation SNP T T A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 14 20296167 20296167 T A SNP OR4N2 ENST00000315947 human ensembl 69_37n +1 known missense c.560 p.L187Q 1.000 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 OR4N2 HGNC ENSG00000176294 736 0 0.00 689 95 12.09 - - - OR8U1 0 genome.wustl.edu 37 11 56143625 56143625 + Missense_Mutation SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 11 56143625 56143625 C A SNP OR8U1 ENST00000302270 human ensembl 69_37n +1 known missense c.526 p.H176N 0.074 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR8U1 HGNC ENSG00000172199 777 0 0.00 684 78 10.20 - - - OR8U1 0 genome.wustl.edu 37 11 56143625 56143625 + Missense_Mutation SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 11 56143625 56143625 C A SNP OR8U1 ENST00000302270 human ensembl 69_37n +1 known missense c.526 p.H176N 0.074 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR8U1 HGNC ENSG00000172199 1109 0 0.00 684 78 10.20 - - - PLOD3 0 genome.wustl.edu 37 7 100856125 100856126 + Frame_Shift_Ins INS - - C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 7 100856125 100856126 - C INS PLOD3 ENST00000223127 human ensembl 69_37n -1 known frame_shift_ins c.877_876 p.Q292fs 1.000:1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 14 0 0.00 9 3 25.00 - - - POTEF 0 genome.wustl.edu 37 2 130832165 130832165 + Silent SNP C C T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 2 130832165 130832165 C T SNP POTEF ENST00000357462 human ensembl 69_37n -1 known silent c.2880 p.A960 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,prints_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors POTEF HGNC ENSG00000196604 28 0 0.00 32 12 27.27 - - - POU2F1 0 genome.wustl.edu 37 1 167382293 167382293 + Silent SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 1 167382293 167382293 C A SNP POU2F1 ENST00000367866 human ensembl 69_37n +1 known silent c.1932 p.T644 0.990 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F1 HGNC ENSG00000143190 130 0 0.00 157 36 18.65 - - - POU2F1 0 genome.wustl.edu 37 1 167382293 167382293 + Silent SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 1 167382293 167382293 C A SNP POU2F1 ENST00000367866 human ensembl 69_37n +1 known silent c.1932 p.T644 0.990 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F1 HGNC ENSG00000143190 164 0 0.00 157 36 18.65 - - - PRAMEF7 0 genome.wustl.edu 37 1 12980232 12980232 + Silent SNP G G A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 1 12980232 12980232 G A SNP PRAMEF7 ENST00000330881 human ensembl 69_37n +1 known silent c.1424 p.*475 0.000 NULL NULL - no_errors PRAMEF7 HGNC ENSG00000204510 38 0 0.00 12 4 25.00 - - - PTCHD1 0 genome.wustl.edu 37 X 23411647 23411647 + Missense_Mutation SNP T T A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 X 23411647 23411647 T A SNP PTCHD1 ENST00000379361 human ensembl 69_37n +1 known missense c.2012 p.L671H 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 236 0 0.00 96 35 26.72 - - - PTCHD1 0 genome.wustl.edu 37 X 23411647 23411647 + Missense_Mutation SNP T T A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 X 23411647 23411647 T A SNP PTCHD1 ENST00000379361 human ensembl 69_37n +1 known missense c.2012 p.L671H 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 103 0 0.00 96 35 26.72 - - - PTCHD4 0 genome.wustl.edu 37 6 47976671 47976671 + Missense_Mutation SNP T T C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 6 47976671 47976671 T C SNP PTCHD4 ENST00000339488 human ensembl 69_37n -1 known missense c.606 p.I202M 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 112 0 0.00 83 12 12.63 - - - PTCHD4 0 genome.wustl.edu 37 6 47976671 47976671 + Missense_Mutation SNP T T C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 6 47976671 47976671 T C SNP PTCHD4 ENST00000339488 human ensembl 69_37n -1 known missense c.606 p.I202M 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 85 0 0.00 83 12 12.63 - - - RANBP17 0 genome.wustl.edu 37 5 170380678 170380678 + Missense_Mutation SNP G G A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 5 170380678 170380678 G A SNP RANBP17 ENST00000523189 human ensembl 69_37n +1 known missense c.1546 p.D516N 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors RANBP17 HGNC ENSG00000204764 82 0 0.00 159 42 20.90 - - - RANBP17 0 genome.wustl.edu 37 5 170380678 170380678 + Missense_Mutation SNP G G A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 5 170380678 170380678 G A SNP RANBP17 ENST00000523189 human ensembl 69_37n +1 known missense c.1546 p.D516N 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors RANBP17 HGNC ENSG00000204764 240 0 0.00 159 42 20.90 - - - RASAL1 0 genome.wustl.edu 37 12 113552621 113552621 + Missense_Mutation SNP C C G TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 12 113552621 113552621 C G SNP RASAL1 ENST00000546530 human ensembl 69_37n -1 known missense c.1165 p.D389H 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASAL1 HGNC ENSG00000111344 73 0 0.00 67 36 34.95 - - - RASAL1 0 genome.wustl.edu 37 12 113552621 113552621 + Missense_Mutation SNP C C G TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 12 113552621 113552621 C G SNP RASAL1 ENST00000546530 human ensembl 69_37n -1 known missense c.1165 p.D389H 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASAL1 HGNC ENSG00000111344 173 0 0.00 67 36 34.95 - - - REG1P 0 genome.wustl.edu 37 2 79363132 79363132 + RNA SNP C C T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 2 79363132 79363132 C T SNP REG1P ENST00000377435 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors REG1P HGNC ENSG00000204787 76 0 0.00 36 12 25.00 - - - REG1P 0 genome.wustl.edu 37 2 79363132 79363132 + RNA SNP C C T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 2 79363132 79363132 C T SNP REG1P ENST00000377435 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors REG1P HGNC ENSG00000204787 54 0 0.00 36 12 25.00 - - - RET 0 genome.wustl.edu 37 10 43597801 43597801 + Missense_Mutation SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 10 43597801 43597801 C A SNP RET ENST00000355710 human ensembl 69_37n +1 known missense c.349 p.P117T 0.993 pirsf_Tyr_kinase_Ret_rcpt pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 64 0 0.00 41 6 12.50 - - - RET 0 genome.wustl.edu 37 10 43597801 43597801 + Missense_Mutation SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 10 43597801 43597801 C A SNP RET ENST00000355710 human ensembl 69_37n +1 known missense c.349 p.P117T 0.993 pirsf_Tyr_kinase_Ret_rcpt pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 118 0 0.00 41 6 12.50 - - - RGS4 0 genome.wustl.edu 37 1 163044344 163044344 + Nonsense_Mutation SNP T T A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 1 163044344 163044344 T A SNP RGS4 ENST00000421743 human ensembl 69_37n +1 known nonsense c.903 p.C301* 0.987 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS4 HGNC ENSG00000117152 529 0 0.00 252 76 23.10 - - - RGS4 0 genome.wustl.edu 37 1 163044344 163044344 + Nonsense_Mutation SNP T T A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 1 163044344 163044344 T A SNP RGS4 ENST00000421743 human ensembl 69_37n +1 known nonsense c.903 p.C301* 0.987 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS4 HGNC ENSG00000117152 328 0 0.00 252 76 23.10 - - - SEMA5A 0 genome.wustl.edu 37 5 9197331 9197331 + Missense_Mutation SNP T T A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 5 9197331 9197331 T A SNP SEMA5A ENST00000382496 human ensembl 69_37n -1 known missense c.1017 p.E339D 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 30 0 0.00 54 20 27.03 - - - SEMA5A 0 genome.wustl.edu 37 5 9197331 9197331 + Missense_Mutation SNP T T A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 5 9197331 9197331 T A SNP SEMA5A ENST00000382496 human ensembl 69_37n -1 known missense c.1017 p.E339D 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 88 0 0.00 54 20 27.03 - - - SMYD4 0 genome.wustl.edu 37 17 1703856 1703856 + Missense_Mutation SNP G G C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 17 1703856 1703856 G C SNP SMYD4 ENST00000305513 human ensembl 69_37n -1 known missense c.832 p.H278D 0.000 pfam_SET_dom pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC ENSG00000186532 145 0 0.00 99 11 10.00 - - - SMYD4 0 genome.wustl.edu 37 17 1703856 1703856 + Missense_Mutation SNP G G C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 17 1703856 1703856 G C SNP SMYD4 ENST00000305513 human ensembl 69_37n -1 known missense c.832 p.H278D 0.000 pfam_SET_dom pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC ENSG00000186532 103 0 0.00 99 11 10.00 - - - SORBS3 0 genome.wustl.edu 37 8 22419432 22419432 + Missense_Mutation SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 8 22419432 22419432 C A SNP SORBS3 ENST00000240123 human ensembl 69_37n +1 known missense c.572 p.T191K 0.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SORBS3 HGNC ENSG00000120896 11 0 0.00 5 4 44.44 - - - SORBS3 0 genome.wustl.edu 37 8 22419432 22419432 + Missense_Mutation SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 8 22419432 22419432 C A SNP SORBS3 ENST00000240123 human ensembl 69_37n +1 known missense c.572 p.T191K 0.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SORBS3 HGNC ENSG00000120896 24 0 0.00 5 4 44.44 - - - SPPL3 0 genome.wustl.edu 37 12 121248611 121248611 + Splice_Site SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 12 121248611 121248611 C A SNP SPPL3 ENST00000353487 human ensembl 69_37n -1 known splice_site c.101+1 e2+1 1.000 - - - no_errors SPPL3 HGNC ENSG00000157837 167 0 0.00 168 53 23.98 - - - SPPL3 0 genome.wustl.edu 37 12 121248611 121248611 + Splice_Site SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 12 121248611 121248611 C A SNP SPPL3 ENST00000353487 human ensembl 69_37n -1 known splice_site c.101+1 e2+1 1.000 - - - no_errors SPPL3 HGNC ENSG00000157837 224 0 0.00 168 53 23.98 - - - SPPL3 0 genome.wustl.edu 37 12 121248612 121248612 + Missense_Mutation SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 12 121248612 121248612 C A SNP SPPL3 ENST00000353487 human ensembl 69_37n -1 known missense c.101 p.R34M 1.000 NULL pfam_Peptidase_A22B_SPP,smart_Peptidase_A22 - no_errors SPPL3 HGNC ENSG00000157837 166 0 0.00 169 54 24.22 - - - SPPL3 0 genome.wustl.edu 37 12 121248612 121248612 + Missense_Mutation SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 12 121248612 121248612 C A SNP SPPL3 ENST00000353487 human ensembl 69_37n -1 known missense c.101 p.R34M 1.000 NULL pfam_Peptidase_A22B_SPP,smart_Peptidase_A22 - no_errors SPPL3 HGNC ENSG00000157837 221 0 0.00 169 54 24.22 - - - STX11 0 genome.wustl.edu 37 6 144507849 144507849 + Missense_Mutation SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 6 144507849 144507849 C A SNP STX11 ENST00000367568 human ensembl 69_37n +1 known missense c.85 p.P29T 0.000 NULL pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX11 HGNC ENSG00000135604 20 0 0.00 68 27 28.12 - - - STX11 0 genome.wustl.edu 37 6 144507849 144507849 + Missense_Mutation SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 6 144507849 144507849 C A SNP STX11 ENST00000367568 human ensembl 69_37n +1 known missense c.85 p.P29T 0.000 NULL pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX11 HGNC ENSG00000135604 77 0 0.00 68 27 28.12 - - - TACC1 0 genome.wustl.edu 37 8 38677317 38677317 + Silent SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 8 38677317 38677317 C A SNP TACC1 ENST00000379931 human ensembl 69_37n +1 known silent c.555 p.S185 0.001 NULL pfam_TACC - no_errors TACC1 HGNC ENSG00000147526 43 0 0.00 70 22 23.91 - - - TACC1 0 genome.wustl.edu 37 8 38677317 38677317 + Silent SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 8 38677317 38677317 C A SNP TACC1 ENST00000379931 human ensembl 69_37n +1 known silent c.555 p.S185 0.001 NULL pfam_TACC - no_errors TACC1 HGNC ENSG00000147526 120 0 0.00 70 22 23.91 - - - TAF1L 0 genome.wustl.edu 37 9 32633233 32633233 + Missense_Mutation SNP A A T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 9 32633233 32633233 A T SNP TAF1L ENST00000242310 human ensembl 69_37n -1 known missense c.2345 p.L782Q 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 242 0 0.00 214 38 15.08 - - - TAF1L 0 genome.wustl.edu 37 9 32633233 32633233 + Missense_Mutation SNP A A T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 9 32633233 32633233 A T SNP TAF1L ENST00000242310 human ensembl 69_37n -1 known missense c.2345 p.L782Q 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 235 0 0.00 214 38 15.08 - - - TBP 0 genome.wustl.edu 37 6 170871052 170871052 + Silent SNP G G A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 6 170871052 170871052 G A SNP TBP ENST00000230354 human ensembl 69_37n +1 known silent c.228 p.Q76 0.994 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 36 0 0.00 45 10 18.18 - - - THOC5 0 genome.wustl.edu 37 22 29945112 29945112 + Missense_Mutation SNP G G C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 22 29945112 29945112 G C SNP THOC5 ENST00000397871 human ensembl 69_37n -1 known missense c.25 p.R9G 1.000 NULL pfam_THO_Thoc5 - no_errors THOC5 HGNC ENSG00000100296 75 0 0.00 52 14 21.21 - - - THOC5 0 genome.wustl.edu 37 22 29945112 29945112 + Missense_Mutation SNP G G C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 22 29945112 29945112 G C SNP THOC5 ENST00000397871 human ensembl 69_37n -1 known missense c.25 p.R9G 1.000 NULL pfam_THO_Thoc5 - no_errors THOC5 HGNC ENSG00000100296 152 0 0.00 52 14 21.21 - - - TP53 0 genome.wustl.edu 37 17 7579359 7579359 + Frame_Shift_Del DEL G G - TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 17 7579359 7579359 G - DEL TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_del c.328 p.R110fs 0.028 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 200 0 0.00 146 67 31.31 - - - TP53 0 genome.wustl.edu 37 17 7579359 7579359 + Frame_Shift_Del DEL G G - TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 17 7579359 7579359 G - DEL TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_del c.328 p.R110fs 0.028 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 212 0 0.00 146 67 31.31 - - - TRAPPC10 0 genome.wustl.edu 37 21 45499985 45499985 + Missense_Mutation SNP C C T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 21 45499985 45499985 C T SNP TRAPPC10 ENST00000291574 human ensembl 69_37n +1 known missense c.1700 p.A567V 1.000 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 39 0 0.00 87 12 12.00 - - - TRAPPC10 0 genome.wustl.edu 37 21 45499985 45499985 + Missense_Mutation SNP C C T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 21 45499985 45499985 C T SNP TRAPPC10 ENST00000291574 human ensembl 69_37n +1 known missense c.1700 p.A567V 1.000 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 141 0 0.00 87 12 12.00 - - - TRPC4AP 0 genome.wustl.edu 37 20 33600860 33600860 + Missense_Mutation SNP A A T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 20 33600860 33600860 A T SNP TRPC4AP ENST00000252015 human ensembl 69_37n -1 known missense c.1360 p.L454M 1.000 pfam_DUF3689 pfam_DUF3689 - no_errors TRPC4AP HGNC ENSG00000100991 44 0 0.00 46 10 17.86 - - - TRPC4AP 0 genome.wustl.edu 37 20 33600860 33600860 + Missense_Mutation SNP A A T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 20 33600860 33600860 A T SNP TRPC4AP ENST00000252015 human ensembl 69_37n -1 known missense c.1360 p.L454M 1.000 pfam_DUF3689 pfam_DUF3689 - no_errors TRPC4AP HGNC ENSG00000100991 98 0 0.00 46 10 17.86 - - - TTLL6 0 genome.wustl.edu 37 17 46862448 46862448 + Missense_Mutation SNP G G T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 17 46862448 46862448 G T SNP TTLL6 ENST00000393382 human ensembl 69_37n -1 known missense c.1877 p.A626D 0.001 NULL pfam_Tub_tyr_ligase - no_errors TTLL6 HGNC ENSG00000170703 177 0 0.00 193 33 14.60 - - - TTLL6 0 genome.wustl.edu 37 17 46862448 46862448 + Missense_Mutation SNP G G T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 17 46862448 46862448 G T SNP TTLL6 ENST00000393382 human ensembl 69_37n -1 known missense c.1877 p.A626D 0.001 NULL pfam_Tub_tyr_ligase - no_errors TTLL6 HGNC ENSG00000170703 308 0 0.00 193 33 14.60 - - - UBE3A 0 genome.wustl.edu 37 15 25601182 25601182 + Frame_Shift_Del DEL C C - TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 15 25601182 25601182 C - DEL UBE3A ENST00000397954 human ensembl 69_37n -1 known frame_shift_del c.1990 p.D664fs 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT - no_errors UBE3A HGNC ENSG00000114062 126 0 0.00 190 27 12.33 - - - UBE3A 0 genome.wustl.edu 37 15 25601182 25601182 + Frame_Shift_Del DEL C C - TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 15 25601182 25601182 C - DEL UBE3A ENST00000397954 human ensembl 69_37n -1 known frame_shift_del c.1990 p.D664fs 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT - no_errors UBE3A HGNC ENSG00000114062 205 0 0.00 190 27 12.33 - - - UBQLN4 0 genome.wustl.edu 37 1 156011319 156011319 + Missense_Mutation SNP A A G TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 1 156011319 156011319 A G SNP UBQLN4 ENST00000368309 human ensembl 69_37n -1 known missense c.1610 p.M537T 1.000 NULL pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN4 HGNC ENSG00000160803 70 0 0.00 23 11 32.35 - - - UBQLN4 0 genome.wustl.edu 37 1 156011319 156011319 + Missense_Mutation SNP A A G TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 1 156011319 156011319 A G SNP UBQLN4 ENST00000368309 human ensembl 69_37n -1 known missense c.1610 p.M537T 1.000 NULL pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN4 HGNC ENSG00000160803 96 0 0.00 23 11 32.35 - - - USP1 0 genome.wustl.edu 37 1 62916175 62916175 + Missense_Mutation SNP G G T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 1 62916175 62916175 G T SNP USP1 ENST00000339950 human ensembl 69_37n +1 known missense c.1881 p.L627F 0.762 pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP1 HGNC ENSG00000162607 184 0 0.00 152 25 14.12 - - - USP1 0 genome.wustl.edu 37 1 62916175 62916175 + Missense_Mutation SNP G G T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 1 62916175 62916175 G T SNP USP1 ENST00000339950 human ensembl 69_37n +1 known missense c.1881 p.L627F 0.762 pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP1 HGNC ENSG00000162607 98 0 0.00 152 25 14.12 - - - VIT 0 genome.wustl.edu 37 2 36994370 36994370 + Silent SNP T T C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 2 36994370 36994370 T C SNP VIT ENST00000379242 human ensembl 69_37n +1 known silent c.621 p.A207 0.000 NULL pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC ENSG00000205221 38 0 0.00 75 10 11.76 - - - VIT 0 genome.wustl.edu 37 2 36994370 36994370 + Silent SNP T T C TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 2 36994370 36994370 T C SNP VIT ENST00000379242 human ensembl 69_37n +1 known silent c.621 p.A207 0.000 NULL pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC ENSG00000205221 120 0 0.00 75 10 11.76 - - - ZFP64 0 genome.wustl.edu 37 20 50769075 50769076 + Frame_Shift_Ins INS - - G TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 20 50769075 50769076 - G INS ZFP64 ENST00000216923 human ensembl 69_37n -1 known frame_shift_ins c.1656_1655 p.Q553fs 0.000:0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 22 0 0.00 41 7 14.58 - - - ZNF397 0 genome.wustl.edu 37 18 32822449 32822449 + Missense_Mutation SNP T T A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 58a1d50c-1674-4db6-8ed7-d2aa04826142 18 32822449 32822449 T A SNP ZNF397 ENST00000588119 human ensembl 69_37n +1 putative missense c.13 p.W5R 0.440 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZNF397 HGNC ENSG00000186812 62 0 0.00 88 14 13.73 - - - ZNF397 0 genome.wustl.edu 37 18 32822449 32822449 + Missense_Mutation SNP T T A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cb9d68dd-d159-4a7e-b914-18d2498b19d6 c300b8f1-4a58-4c24-87ed-07654388f249 18 32822449 32822449 T A SNP ZNF397 ENST00000588119 human ensembl 69_37n +1 putative missense c.13 p.W5R 0.440 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZNF397 HGNC ENSG00000186812 105 0 0.00 88 14 13.73 - - -