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 ANKS1B 0 genome.wustl.edu 37 12 100206055 100206055 + Missense_Mutation SNP A A C TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 12 100206055 100206055 A C SNP ANKS1B ENST00000329257 human ensembl 69_37n -1 known missense c.250 p.S84A 0.932 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1B HGNC ENSG00000185046 231 0 0.00 326 81 19.85 - - - APH1B 0 genome.wustl.edu 37 15 63594553 63594553 + Missense_Mutation SNP C C T TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 15 63594553 63594553 C T SNP APH1B ENST00000261879 human ensembl 69_37n +1 known missense c.488 p.T163M 1.000 pfam_Aph-1 pfam_Aph-1 - no_errors APH1B HGNC ENSG00000138613 227 0 0.00 448 109 19.53 - - - BEST1 0 genome.wustl.edu 37 11 61727447 61727448 + Frame_Shift_Ins INS - - C TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 11 61727447 61727448 - C INS BEST1 ENST00000449131 human ensembl 69_37n +1 known frame_shift_ins c.852_853 p.Y286fs 0.598:0.999 NULL pfam_Bestrophin/UPF0187 - no_errors BEST1 HGNC ENSG00000167995 13 0 0.00 9 2 18.18 - - - CACNA1A 0 genome.wustl.edu 37 19 13470592 13470592 + Missense_Mutation SNP G G A TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 19 13470592 13470592 G A SNP CACNA1A ENST00000360228 human ensembl 69_37n -1 known missense c.806 p.P269L 0.971 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 18 0 0.00 28 8 22.22 - - - CARS2 0 genome.wustl.edu 37 13 111296764 111296765 + Frame_Shift_Ins INS - - A TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 13 111296764 111296765 - A INS CARS2 ENST00000257347 human ensembl 69_37n -1 known frame_shift_ins c.1384_1383 p.E461fs 0.674:0.630 superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Cys-tRNA-synt pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,superfamily_tRNAsynth_1a_anticodon-bd,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-synt - no_errors CARS2 HGNC ENSG00000134905 58 0 0.00 10 2 16.67 - - - CEP192 0 genome.wustl.edu 37 18 13049592 13049592 + Missense_Mutation SNP G G T TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 18 13049592 13049592 G T SNP CEP192 ENST00000506447 human ensembl 69_37n +1 known missense c.2802 p.Q934H 0.021 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 249 0 0.00 191 216 53.07 - - - CEP192 0 genome.wustl.edu 37 18 13049593 13049593 + Missense_Mutation SNP A A T TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 18 13049593 13049593 A T SNP CEP192 ENST00000506447 human ensembl 69_37n +1 known missense c.2803 p.R935W 0.024 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 248 0 0.00 190 218 53.43 - - - CHD6 0 genome.wustl.edu 37 20 40033794 40033794 + Silent SNP G G A TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 20 40033794 40033794 G A SNP CHD6 ENST00000373233 human ensembl 69_37n -1 known silent c.7587 p.P2529 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 98 0 0.00 113 60 34.68 - - - CLIP1 0 genome.wustl.edu 37 12 122848621 122848621 + Missense_Mutation SNP G G A TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 12 122848621 122848621 G A SNP CLIP1 ENST00000540338 human ensembl 69_37n -1 known missense c.691 p.L231F 0.999 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC ENSG00000130779 69 0 0.00 78 100 55.87 - - - CLSTN2 0 genome.wustl.edu 37 3 140277569 140277569 + Silent SNP C C G TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 3 140277569 140277569 C G SNP CLSTN2 ENST00000458420 human ensembl 69_37n +1 known silent c.1911 p.L637 0.454 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 90 0 0.00 113 30 20.98 - - - CNTN1 0 genome.wustl.edu 37 12 41421662 41421662 + Missense_Mutation SNP C C T TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 12 41421662 41421662 C T SNP CNTN1 ENST00000347616 human ensembl 69_37n +1 known missense c.2714 p.P905L 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN1 HGNC ENSG00000018236 92 0 0.00 160 26 13.98 - - - CPXM1 0 genome.wustl.edu 37 20 2778613 2778613 + Splice_Site SNP C C T TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 20 2778613 2778613 C T SNP CPXM1 ENST00000380605 human ensembl 69_37n -1 known splice_site c.681+1 e5+1 0.998 - - - no_errors CPXM1 HGNC ENSG00000088882 110 0 0.00 36 13 26.53 - - - DNAAF1 0 genome.wustl.edu 37 16 84203706 84203706 + Silent SNP G G A TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 16 84203706 84203706 G A SNP DNAAF1 ENST00000378553 human ensembl 69_37n +1 known silent c.1272 p.S424 0.000 NULL NULL - no_errors DNAAF1 HGNC ENSG00000154099 47 0 0.00 29 9 23.68 - - - DNAH17 0 genome.wustl.edu 37 17 76455994 76455994 + Missense_Mutation SNP C C T TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 17 76455994 76455994 C T SNP DNAH17 ENST00000591369 human ensembl 69_37n -1 known missense c.1127 p.G376E 0.153 NULL pfam_Dynein_heavy,superfamily_HR1_rho-bd - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DNAH17 HGNC ENSG00000187775 22 0 0.00 11 11 50.00 - - - DOM3Z 0 genome.wustl.edu 37 6 31937674 31937675 + Frame_Shift_Ins INS - - G TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 6 31937674 31937675 - G INS DOM3Z ENST00000337523 human ensembl 69_37n -1 known frame_shift_ins c.1171_1170 p.K390fs 0.980:0.835 NULL pfam_RAI1 - no_errors DOM3Z HGNC ENSG00000204348 40 0 0.00 17 3 15.00 - - - EIF4A2 0 genome.wustl.edu 37 3 186505647 186505647 + Missense_Mutation SNP C C G TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 3 186505647 186505647 C G SNP EIF4A2 ENST00000440191 human ensembl 69_37n +1 known missense c.1058 p.T353S 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A2 HGNC ENSG00000156976 122 0 0.00 58 81 58.27 - - - ERCC3 0 genome.wustl.edu 37 2 128051120 128051120 + Missense_Mutation SNP T T G TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 2 128051120 128051120 T G SNP ERCC3 ENST00000285398 human ensembl 69_37n -1 known missense c.203 p.K68T 1.000 tigrfam_XPGB_DNA_repair pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_XPGB_DNA_repair,tigrfam_XPGB_DNA_repair - no_errors ERCC3 HGNC ENSG00000163161 29 0 0.00 24 5 16.67 - - - EYS 0 genome.wustl.edu 37 6 66094305 66094305 + Missense_Mutation SNP A A C TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 6 66094305 66094305 A C SNP EYS ENST00000370616 human ensembl 69_37n -1 known missense c.1273 p.C425G 1.000 NULL pfam_Laminin_G,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 98 0 0.00 101 18 15.13 - - - FAM104A 0 genome.wustl.edu 37 17 71228436 71228437 + Frame_Shift_Ins INS - - C TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 17 71228436 71228437 - C INS FAM104A ENST00000405159 human ensembl 69_37n -1 known frame_shift_ins c.10_9 p.R3fs 1.000:1.000 NULL NULL - no_errors FAM104A HGNC ENSG00000133193 10 0 0.00 9 3 25.00 - - - FAM109B 0 genome.wustl.edu 37 22 42473376 42473377 + Frame_Shift_Ins INS - - G TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 22 42473376 42473377 - G INS FAM109B ENST00000321753 human ensembl 69_37n +1 known frame_shift_ins c.79_80 p.P31fs 0.979:1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FAM109B HGNC ENSG00000177096 31 0 0.00 23 3 11.54 - - - FRMPD3 0 genome.wustl.edu 37 X 106769911 106769911 + Silent SNP C C A TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada X 106769911 106769911 C A SNP FRMPD3 ENST00000276185 human ensembl 69_37n +1 known silent c.192 p.G64 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 246 0 0.00 128 139 52.06 - - - GALNT14 0 genome.wustl.edu 37 2 31165080 31165080 + Silent SNP A A C TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 2 31165080 31165080 A C SNP GALNT14 ENST00000349752 human ensembl 69_37n -1 known silent c.918 p.G306 0.336 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT14 HGNC ENSG00000158089 174 0 0.00 207 58 21.89 - - - GATA3 0 genome.wustl.edu 37 10 8115809 8115810 + Frame_Shift_Del DEL CC CC - TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 CC CC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 10 8115809 8115810 CC - DEL GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_del c.1158_1159 p.P387fs 1.000:1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 94 0 0.00 127 73 36.32 - - - GGT1 0 genome.wustl.edu 37 22 25016911 25016911 + Missense_Mutation SNP C C T TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 22 25016911 25016911 C T SNP GGT1 ENST00000248923 human ensembl 69_37n +1 known missense c.607 p.R203W 0.922 pfam_GGT_peptidase,tigrfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase - no_errors GGT1 HGNC ENSG00000100031 27 0 0.00 18 3 14.29 - - - GJC1 0 genome.wustl.edu 37 17 42883150 42883150 + Missense_Mutation SNP C C G TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 17 42883150 42883150 C G SNP GJC1 ENST00000330514 human ensembl 69_37n -1 known missense c.36 p.E12D 1.000 pfam_Connexin_N pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin45 - no_errors GJC1 HGNC ENSG00000182963 102 1 0.97 65 68 51.13 - - - GPR101 0 genome.wustl.edu 37 X 136113230 136113230 + Missense_Mutation SNP C C T TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada X 136113230 136113230 C T SNP GPR101 ENST00000298110 human ensembl 69_37n -1 known missense c.604 p.V202I 0.260 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR101 HGNC ENSG00000165370 153 0 0.00 87 23 20.91 - - - GPR78 0 genome.wustl.edu 37 4 8588882 8588882 + Missense_Mutation SNP C C T TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 4 8588882 8588882 C T SNP GPR78 ENST00000382487 human ensembl 69_37n +1 known missense c.884 p.S295F 0.910 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR78 HGNC ENSG00000155269 21 0 0.00 6 4 40.00 - - - GTSE1 0 genome.wustl.edu 37 22 46704569 46704569 + Missense_Mutation SNP A A T TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 22 46704569 46704569 A T SNP GTSE1 ENST00000454366 human ensembl 69_37n +1 known missense c.491 p.E164V 1.000 NULL NULL - no_errors GTSE1 HGNC ENSG00000075218 109 0 0.00 90 12 11.76 - - - HAUS1 0 genome.wustl.edu 37 18 43685277 43685277 + Missense_Mutation SNP G G T TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 18 43685277 43685277 G T SNP HAUS1 ENST00000282058 human ensembl 69_37n +1 known missense c.148 p.D50Y 1.000 NULL NULL - no_errors HAUS1 HGNC ENSG00000152240 79 0 0.00 39 45 53.57 - - - HCN3 0 genome.wustl.edu 37 1 155257006 155257006 + Missense_Mutation SNP G G A TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 1 155257006 155257006 G A SNP HCN3 ENST00000368358 human ensembl 69_37n +1 known missense c.1520 p.R507Q 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN3 HGNC ENSG00000143630 81 0 0.00 44 22 33.33 - - - HEATR7B2 0 genome.wustl.edu 37 5 41049481 41049481 + Missense_Mutation SNP C C T TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 5 41049481 41049481 C T SNP HEATR7B2 ENST00000399564 human ensembl 69_37n -1 known missense c.1402 p.E468K 0.025 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 78 0 0.00 103 64 38.32 - - - HECW1 0 genome.wustl.edu 37 7 43484512 43484512 + Nonsense_Mutation SNP G G T TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 7 43484512 43484512 G T SNP HECW1 ENST00000395891 human ensembl 69_37n +1 known nonsense c.1741 p.E581* 1.000 NULL 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 20 0 0.00 4 5 50.00 - - - KANK1 0 genome.wustl.edu 37 9 712824 712824 + Silent SNP C C G TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 9 712824 712824 C G SNP KANK1 ENST00000382297 human ensembl 69_37n +1 known silent c.2058 p.T686 0.003 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 59 0 0.00 45 11 19.64 - - - KAT6B 0 genome.wustl.edu 37 10 76748864 76748864 + Missense_Mutation SNP G G A TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 10 76748864 76748864 G A SNP KAT6B ENST00000287239 human ensembl 69_37n +1 known missense c.2623 p.D875N 1.000 pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 201 0 0.00 311 80 20.41 - - - KCNQ3 0 genome.wustl.edu 37 8 133141963 133141963 + Missense_Mutation SNP C C G TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 8 133141963 133141963 C G SNP KCNQ3 ENST00000388996 human ensembl 69_37n -1 known missense c.2165 p.R722P 0.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 83 0 0.00 257 34 11.60 - - - LGALS9B 0 genome.wustl.edu 37 17 20356373 20356373 + Missense_Mutation SNP G G A TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 17 20356373 20356373 G A SNP LGALS9B ENST00000423676 human ensembl 69_37n -1 known missense c.584 p.T195I 0.000 NULL pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD - no_errors LGALS9B HGNC ENSG00000170298 50 0 0.00 9 30 76.92 - - - MYO1H 0 genome.wustl.edu 37 12 109843800 109843800 + Missense_Mutation SNP C C A TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 12 109843800 109843800 C A SNP MYO1H ENST00000431443 human ensembl 69_37n +1 known missense c.875 p.A292D 0.988 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1H HGNC ENSG00000174527 76 0 0.00 162 29 15.18 - - - NCR1 0 genome.wustl.edu 37 19 55418015 55418015 + Missense_Mutation SNP G G A TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 19 55418015 55418015 G A SNP NCR1 ENST00000291890 human ensembl 69_37n +1 known missense c.205 p.V69M 0.000 smart_Ig_sub smart_Ig_sub - no_errors NCR1 HGNC ENSG00000189430 154 0 0.00 118 24 16.90 - - - NDST1 0 genome.wustl.edu 37 5 149907411 149907411 + Silent SNP C C T TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 5 149907411 149907411 C T SNP NDST1 ENST00000261797 human ensembl 69_37n +1 known silent c.559 p.L187 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST1 HGNC ENSG00000070614 56 0 0.00 27 8 22.86 - - - OR2T6 0 genome.wustl.edu 37 1 248551590 248551590 + Silent SNP G G A TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 1 248551590 248551590 G A SNP OR2T6 ENST00000355728 human ensembl 69_37n +1 known silent c.681 p.Q227 0.003 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2T6 HGNC ENSG00000198104 81 0 0.00 196 26 11.71 - - - PTCH2 0 genome.wustl.edu 37 1 45288193 45288194 + Frame_Shift_Ins INS - - G TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 1 45288193 45288194 - G INS PTCH2 ENST00000372192 human ensembl 69_37n -1 known frame_shift_ins c.3506_3505 p.L1169fs 0.924:0.616 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 42 0 0.00 24 3 11.11 - - - RAB3GAP2 0 genome.wustl.edu 37 1 220440366 220440366 + RNA SNP G G A TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 1 220440366 220440366 G A SNP RAB3GAP2 ENST00000462353 human ensembl 69_37n -1 known rna NULL NULL 0.997 - - - no_errors RAB3GAP2 HGNC ENSG00000118873 115 0 0.00 132 29 17.90 - - - RIMBP2 0 genome.wustl.edu 37 12 130926628 130926628 + Silent SNP G G A TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 12 130926628 130926628 G A SNP RIMBP2 ENST00000261655 human ensembl 69_37n -1 known silent c.1218 p.S406 0.487 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 42 0 0.00 11 16 59.26 - - - RIMBP2 0 genome.wustl.edu 37 12 130927141 130927141 + Silent SNP G G A TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 12 130927141 130927141 G A SNP RIMBP2 ENST00000261655 human ensembl 69_37n -1 known silent c.705 p.N235 0.896 superfamily_SH3_domain pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 45 0 0.00 21 17 44.74 - - - RP2 0 genome.wustl.edu 37 X 46713075 46713075 + Nonsense_Mutation SNP C C A TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada X 46713075 46713075 C A SNP RP2 ENST00000218340 human ensembl 69_37n +1 known nonsense c.267 p.C89* 0.996 pfam_Tubulin-bd_cofactor_C,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif,pirsf_Protein_XRP2 pfam_Tubulin-bd_cofactor_C,superfamily_Nucleoside_diP_kinase,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif,pirsf_Protein_XRP2 - no_errors RP2 HGNC ENSG00000102218 242 0 0.00 376 68 15.28 - - - RPS10 0 genome.wustl.edu 37 6 34389559 34389559 + Missense_Mutation SNP T T A TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 6 34389559 34389559 T A SNP RPS10 ENST00000326199 human ensembl 69_37n -1 known missense c.348 p.R116S 0.983 NULL pfam_S10_plectin_N - no_errors RPS10 HGNC ENSG00000124614 161 0 0.00 95 51 34.93 - - - SLC12A6 0 genome.wustl.edu 37 15 34533532 34533532 + Missense_Mutation SNP C C G TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 15 34533532 34533532 C G SNP SLC12A6 ENST00000558589 human ensembl 69_37n -1 known missense c.2142 p.E714D 1.000 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A6 HGNC ENSG00000140199 66 0 0.00 128 16 11.11 - - - SUPT5H 0 genome.wustl.edu 37 19 39962333 39962333 + Missense_Mutation SNP G G T TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 19 39962333 39962333 G T SNP SUPT5H ENST00000359191 human ensembl 69_37n +1 known missense c.1913 p.C638F 1.000 pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 75 0 0.00 36 6 14.29 - - - TLN1 0 genome.wustl.edu 37 9 35717228 35717228 + Silent SNP C C A TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 9 35717228 35717228 C A SNP TLN1 ENST00000314888 human ensembl 69_37n -1 known silent c.2373 p.G791 0.109 NULL pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN1 HGNC ENSG00000137076 112 0 0.00 71 11 13.41 - - - TP53 0 genome.wustl.edu 37 17 7578205 7578205 + Missense_Mutation SNP C C A TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 17 7578205 7578205 C A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.644 p.S215I 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor 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 76 0 0.00 20 84 80.77 - - - TRIL 0 genome.wustl.edu 37 7 28996972 28996972 + RNA SNP G G A TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 7 28996972 28996972 G A SNP TRIL ENST00000322982 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors TRIL HGNC ENSG00000176734 9 0 0.00 3 5 62.50 - - - UBE2O 0 genome.wustl.edu 37 17 74387082 74387082 + Missense_Mutation SNP G G A TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 17 74387082 74387082 G A SNP UBE2O ENST00000319380 human ensembl 69_37n -1 known missense c.3821 p.T1274M 0.379 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 41 0 0.00 26 6 18.75 - - - VWF 0 genome.wustl.edu 37 12 6120800 6120800 + Missense_Mutation SNP C C T TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 12 6120800 6120800 C T SNP VWF ENST00000261405 human ensembl 69_37n -1 known missense c.5825 p.C1942Y 1.000 pirsf_VWF,smart_VWF_type-D pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 36 0 0.00 32 6 15.79 - - - ZNF717 0 genome.wustl.edu 37 3 75787267 75787268 + Frame_Shift_Del DEL CT CT - TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06221ce8-ab65-4694-945b-059b9c15ede4 216ff15e-f1a4-402a-a5bb-a9b4dccd6ada 3 75787267 75787268 CT - DEL ZNF717 ENST00000422325 human ensembl 69_37n -1 known frame_shift_del c.1507_1506 p.E504fs 1.000:1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF717 HGNC ENSG00000227124 10 0 0.00 15 14 46.67 - - -