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 ANGPT4 0 genome.wustl.edu 37 20 865878 865878 + Silent SNP C C T TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 20 865878 865878 C T SNP ANGPT4 ENST00000381922 human ensembl 69_37n -1 known silent c.678 p.T226 0.971 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPT4 HGNC ENSG00000101280 20 0 0.00 15 4 21.05 - - - ANK3 0 genome.wustl.edu 37 10 61842433 61842433 + Silent SNP T T C TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 10 61842433 61842433 T C SNP ANK3 ENST00000280772 human ensembl 69_37n -1 known silent c.4263 p.T1421 0.210 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 354 0 0.00 208 67 24.28 - - - AQP12B 0 genome.wustl.edu 37 2 241621869 241621869 + Missense_Mutation SNP G G A TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 bd560d56-fd13-4213-8e29-2a99fee0a055 2 241621869 241621869 G A SNP AQP12B ENST00000407834 human ensembl 69_37n -1 known missense c.386 p.T129M 0.017 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP - no_errors AQP12B HGNC ENSG00000185176 10 0 0.00 10 7 41.18 - - - ATAD2 0 genome.wustl.edu 37 8 124381414 124381414 + Silent SNP T T C TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 8 124381414 124381414 T C SNP ATAD2 ENST00000287394 human ensembl 69_37n -1 known silent c.933 p.K311 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 130 0 0.00 256 41 13.80 - - - C1R 0 genome.wustl.edu 37 12 7242776 7242777 + Frame_Shift_Ins INS - - G TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 bd560d56-fd13-4213-8e29-2a99fee0a055 12 7242776 7242777 - G INS C1R ENST00000290575 human ensembl 69_37n -1 known frame_shift_ins c.342_341 p.K117fs 0.377:1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_CUB,pfam_EGF-like_Ca-bd,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6 - no_errors C1R HGNC ENSG00000159403 14 0 0.00 25 3 10.71 - - - C1R 0 genome.wustl.edu 37 12 7242776 7242777 + Frame_Shift_Ins INS - - G TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 12 7242776 7242777 - G INS C1R ENST00000290575 human ensembl 69_37n -1 known frame_shift_ins c.342_341 p.K117fs 0.377:1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_CUB,pfam_EGF-like_Ca-bd,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6 - no_errors C1R HGNC ENSG00000159403 35 0 0.00 25 3 10.71 - - - C8orf34 0 genome.wustl.edu 37 8 69434116 69434116 + Missense_Mutation SNP C C T TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 8 69434116 69434116 C T SNP C8orf34 ENST00000518698 human ensembl 69_37n +1 known missense c.848 p.P283L 0.998 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 241 0 0.00 421 64 13.17 - - - CA9 0 genome.wustl.edu 37 9 35676375 35676375 + Missense_Mutation SNP G G T TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 9 35676375 35676375 G T SNP CA9 ENST00000378357 human ensembl 69_37n +1 known missense c.829 p.A277S 0.874 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA9 HGNC ENSG00000107159 106 0 0.00 88 24 21.43 - - - CCDC146 0 genome.wustl.edu 37 7 76871096 76871096 + Missense_Mutation SNP G G C TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 7 76871096 76871096 G C SNP CCDC146 ENST00000285871 human ensembl 69_37n +1 known missense c.328 p.D110H 0.951 NULL NULL - no_errors CCDC146 HGNC ENSG00000135205 227 0 0.00 177 32 15.31 - - - CCL4L2 0 genome.wustl.edu 37 17 34641454 34641454 + Nonsense_Mutation SNP C C T TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 bd560d56-fd13-4213-8e29-2a99fee0a055 17 34641454 34641454 C T SNP CCL4L2 ENST00000394465 human ensembl 69_37n +1 known nonsense c.196 p.Q66* 0.873 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL4L2 HGNC ENSG00000197262 108 0 0.00 42 9 17.65 - - - CCL4L2 0 genome.wustl.edu 37 17 34641454 34641454 + Nonsense_Mutation SNP C C T TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 17 34641454 34641454 C T SNP CCL4L2 ENST00000394465 human ensembl 69_37n +1 known nonsense c.196 p.Q66* 0.873 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL4L2 HGNC ENSG00000197262 67 0 0.00 42 9 17.65 - - - CD22 0 genome.wustl.edu 37 19 35827245 35827245 + Splice_Site SNP G G A TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 19 35827245 35827245 G A SNP CD22 ENST00000085219 human ensembl 69_37n +1 known splice_site c.718+1 e3+1 1.000 - - - no_errors CD22 HGNC ENSG00000012124 87 0 0.00 35 38 52.05 - - - CDC45 0 genome.wustl.edu 37 22 19504407 19504407 + Missense_Mutation SNP G G A TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 22 19504407 19504407 G A SNP CDC45 ENST00000437685 human ensembl 69_37n +1 known missense c.1723 p.D575N 1.000 pfam_CDC45 pfam_CDC45 - no_errors CDC45 HGNC ENSG00000093009 30 0 0.00 11 8 42.11 - - - CDH26 0 genome.wustl.edu 37 20 58571003 58571003 + Missense_Mutation SNP C C G TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 20 58571003 58571003 C G SNP CDH26 ENST00000244047 human ensembl 69_37n +1 known missense c.1782 p.I594M 0.072 superfamily_Cadherin-like pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 69 0 0.00 143 17 10.62 - - - CHD6 0 genome.wustl.edu 37 20 40126068 40126068 + Nonsense_Mutation SNP G G A TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 20 40126068 40126068 G A SNP CHD6 ENST00000373233 human ensembl 69_37n -1 known nonsense c.1048 p.R350* 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow 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 199 0 0.00 156 27 14.75 - - - CHSY3 0 genome.wustl.edu 37 5 129520729 129520729 + Missense_Mutation SNP G G A TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 bd560d56-fd13-4213-8e29-2a99fee0a055 5 129520729 129520729 G A SNP CHSY3 ENST00000305031 human ensembl 69_37n +1 known missense c.1894 p.D632N 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 74 0 0.00 132 28 17.50 - - - CHSY3 0 genome.wustl.edu 37 5 129520729 129520729 + Missense_Mutation SNP G G A TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 5 129520729 129520729 G A SNP CHSY3 ENST00000305031 human ensembl 69_37n +1 known missense c.1894 p.D632N 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 141 0 0.00 132 28 17.50 - - - COL22A1 0 genome.wustl.edu 37 8 139638436 139638436 + Silent SNP G G A TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 8 139638436 139638436 G A SNP COL22A1 ENST00000303045 human ensembl 69_37n -1 known silent c.3714 p.I1238 0.993 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 316 0 0.00 607 166 21.47 - - - DGKB 0 genome.wustl.edu 37 7 14216525 14216525 + Splice_Site SNP C C T TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 7 14216525 14216525 C T SNP DGKB ENST00000258767 human ensembl 69_37n -1 known splice_site c.2247-1 e24-1 1.000 - - - no_errors DGKB HGNC ENSG00000136267 589 0 0.00 378 82 17.79 - - - DYRK3 0 genome.wustl.edu 37 1 206820860 206820860 + Missense_Mutation SNP G G T TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 1 206820860 206820860 G T SNP DYRK3 ENST00000367109 human ensembl 69_37n +1 known missense c.317 p.S106I 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DYRK3 HGNC ENSG00000143479 358 0 0.00 465 87 15.76 - - - EMB 0 genome.wustl.edu 37 5 49707043 49707043 + Missense_Mutation SNP T T C TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 5 49707043 49707043 T C SNP EMB ENST00000303221 human ensembl 69_37n -1 known missense c.371 p.Y124C 0.001 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors EMB HGNC ENSG00000170571 399 0 0.00 340 60 15.00 - - - ESPNP 0 genome.wustl.edu 37 1 17023376 17023376 + RNA SNP C C T TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 bd560d56-fd13-4213-8e29-2a99fee0a055 1 17023376 17023376 C T SNP ESPNP ENST00000492551 human ensembl 69_37n -1 known rna NULL NULL 0.527 - - - no_errors ESPNP HGNC ENSG00000116219 10 0 0.00 1 6 85.71 - - - FAM188B 0 genome.wustl.edu 37 7 30898940 30898941 + Frame_Shift_Del DEL TG TG - TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-10A-01W-A071-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 bd560d56-fd13-4213-8e29-2a99fee0a055 7 30898940 30898941 TG - DEL FAM188B ENST00000265299 human ensembl 69_37n +1 known frame_shift_del c.1745 p.L582fs 0.997 NULL NULL - no_errors FAM188B HGNC ENSG00000106125 23 0 0.00 47 52 52.53 - - - FAM188B 0 genome.wustl.edu 37 7 30898940 30898941 + Frame_Shift_Del DEL TG TG - TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 7 30898940 30898941 TG - DEL FAM188B ENST00000265299 human ensembl 69_37n +1 known frame_shift_del c.1745 p.L582fs 0.997 NULL NULL - no_errors FAM188B HGNC ENSG00000106125 65 0 0.00 47 52 52.53 - - - FAM47B 0 genome.wustl.edu 37 X 34962578 34962578 + Missense_Mutation SNP G G A TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea X 34962578 34962578 G A SNP FAM47B ENST00000329357 human ensembl 69_37n +1 known missense c.1630 p.G544R 0.001 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 336 0 0.00 176 62 26.05 - - - FAM75A3 0 genome.wustl.edu 37 9 40705542 40705542 + Missense_Mutation SNP C C T TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 9 40705542 40705542 C T SNP FAM75A3 ENST00000356699 human ensembl 69_37n +1 known missense c.3199 p.R1067W 0.000 NULL NULL - no_errors FAM75A3 HGNC ENSG00000147926 140 1 0.71 19 15 44.12 - - - FGL2 0 genome.wustl.edu 37 7 76826243 76826243 + Missense_Mutation SNP C C G TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 7 76826243 76826243 C G SNP FGL2 ENST00000248598 human ensembl 69_37n -1 known missense c.673 p.E225Q 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGL2 HGNC ENSG00000127951 209 0 0.00 173 30 14.71 - - - FMO6P 0 genome.wustl.edu 37 1 171121173 171121173 + Missense_Mutation SNP A A G TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 bd560d56-fd13-4213-8e29-2a99fee0a055 1 171121173 171121173 A G SNP FMO6P ENST00000236166 human ensembl 69_37n +1 novel missense c.952 p.M318V 0.036 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO6P HGNC ENSG00000117507 16 0 0.00 3 8 72.73 - - - GIMAP6 0 genome.wustl.edu 37 7 150324841 150324841 + Missense_Mutation SNP G G A TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 7 150324841 150324841 G A SNP GIMAP6 ENST00000328902 human ensembl 69_37n -1 known missense c.845 p.A282V 0.000 NULL pfam_AIG1 - no_errors GIMAP6 HGNC ENSG00000133561 248 0 0.00 145 52 26.40 - - - GLRA2 0 genome.wustl.edu 37 X 14627177 14627177 + Missense_Mutation SNP G G C TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea X 14627177 14627177 G C SNP GLRA2 ENST00000218075 human ensembl 69_37n +1 known missense c.780 p.Q260H 1.000 superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A2,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA2 HGNC ENSG00000101958 398 0 0.00 129 52 28.73 - - - GRXCR2 0 genome.wustl.edu 37 5 145239466 145239466 + Missense_Mutation SNP G G A TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 5 145239466 145239466 G A SNP GRXCR2 ENST00000377976 human ensembl 69_37n -1 known missense c.577 p.P193S 0.293 NULL NULL - no_errors GRXCR2 HGNC ENSG00000204928 84 0 0.00 90 53 36.81 - - - HOMER1 0 genome.wustl.edu 37 5 78742884 78742884 + Missense_Mutation SNP G G C TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 5 78742884 78742884 G C SNP HOMER1 ENST00000334082 human ensembl 69_37n -1 known missense c.379 p.P127A 1.000 NULL pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors HOMER1 HGNC ENSG00000152413 114 0 0.00 90 20 18.18 - - - HOOK1 0 genome.wustl.edu 37 1 60328544 60328544 + Missense_Mutation SNP G G A TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 1 60328544 60328544 G A SNP HOOK1 ENST00000371208 human ensembl 69_37n +1 known missense c.1621 p.E541K 1.000 pfam_HOOK pfam_HOOK,superfamily_Prefoldin - no_errors HOOK1 HGNC ENSG00000134709 236 0 0.00 140 39 21.79 - - - HS6ST2 0 genome.wustl.edu 37 X 131762517 131762517 + Missense_Mutation SNP G G A TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea X 131762517 131762517 G A SNP HS6ST2 ENST00000521489 human ensembl 69_37n -1 known missense c.1672 p.R558C 1.000 NULL pfam_Sulfotransferase - no_errors HS6ST2 HGNC ENSG00000171004 216 0 0.00 48 79 62.20 - - - IQSEC2 0 genome.wustl.edu 37 X 53283878 53283878 + Missense_Mutation SNP G G A TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea X 53283878 53283878 G A SNP IQSEC2 ENST00000396435 human ensembl 69_37n -1 known missense c.1235 p.S412L 1.000 NULL pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC2 HGNC ENSG00000124313 59 0 0.00 24 13 35.14 - - - KCNA4 0 genome.wustl.edu 37 11 30033717 30033717 + Missense_Mutation SNP C C T TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 11 30033717 30033717 C T SNP KCNA4 ENST00000328224 human ensembl 69_37n -1 known missense c.509 p.R170H 1.000 NULL pfam_K_chnl_volt-dep_Kv1.4_TID,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_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 168 0 0.00 176 109 37.98 - - - LARP7 0 genome.wustl.edu 37 4 113578482 113578483 + Frame_Shift_Ins INS - - A TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 bd560d56-fd13-4213-8e29-2a99fee0a055 4 113578482 113578483 - A INS LARP7 ENST00000324052 human ensembl 69_37n +1 known frame_shift_ins c.1748_1749 p.*584fs 0.998:1.000 NULL pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 28 0 0.00 25 3 10.71 - - - LHX6 0 genome.wustl.edu 37 9 124971974 124971974 + Missense_Mutation SNP C C T TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 bd560d56-fd13-4213-8e29-2a99fee0a055 9 124971974 124971974 C T SNP LHX6 ENST00000482062 human ensembl 69_37n -1 putative missense c.311 p.C104Y 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,pfscan_Homeodomain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LHX6 HGNC ENSG00000106852 12 0 0.00 8 6 42.86 - - - LHX6 0 genome.wustl.edu 37 9 124971974 124971974 + Missense_Mutation SNP C C T TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 9 124971974 124971974 C T SNP LHX6 ENST00000482062 human ensembl 69_37n -1 putative missense c.311 p.C104Y 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,pfscan_Homeodomain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LHX6 HGNC ENSG00000106852 30 0 0.00 8 6 42.86 - - - METTL9 0 genome.wustl.edu 37 16 21636383 21636383 + Missense_Mutation SNP G G C TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 16 21636383 21636383 G C SNP METTL9 ENST00000358154 human ensembl 69_37n +1 known missense c.698 p.R233T 0.996 pfam_DREV_MeTrfase pfam_DREV_MeTrfase,pfam_Methyltransf_12,pfam_Methyltransf_11 - no_errors METTL9 HGNC ENSG00000197006 96 0 0.00 86 26 23.21 - - - MIOS 0 genome.wustl.edu 37 7 7636043 7636043 + Silent SNP A A T TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 7 7636043 7636043 A T SNP MIOS ENST00000340080 human ensembl 69_37n +1 known silent c.2352 p.R784 1.000 NULL smart_WD40_repeat - no_errors MIOS HGNC ENSG00000164654 279 0 0.00 227 71 23.83 - - - MOGAT3 0 genome.wustl.edu 37 7 100839208 100839208 + Missense_Mutation SNP C C T TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 7 100839208 100839208 C T SNP MOGAT3 ENST00000379423 human ensembl 69_37n -1 known missense c.842 p.R281H 0.000 NULL pfam_DAGAT - no_errors MOGAT3 HGNC ENSG00000106384 37 0 0.00 16 7 30.43 - - - MRPS31 0 genome.wustl.edu 37 13 41333178 41333178 + Missense_Mutation SNP C C G TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 13 41333178 41333178 C G SNP MRPS31 ENST00000323563 human ensembl 69_37n -1 known missense c.505 p.D169H 1.000 NULL NULL - no_errors MRPS31 HGNC ENSG00000102738 173 0 0.00 64 45 41.28 - - - NTHL1 0 genome.wustl.edu 37 16 2096132 2096133 + Frame_Shift_Ins INS - - G TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 16 2096132 2096133 - G INS NTHL1 ENST00000219066 human ensembl 69_37n -1 known frame_shift_ins c.375_374 p.V127fs 0.794:1.000 superfamily_DNA_glycosylase pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors NTHL1 HGNC ENSG00000065057 14 0 0.00 20 3 13.04 - - - OR2T35 0 genome.wustl.edu 37 1 248801953 248801954 + Frame_Shift_Ins INS - - T TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 bd560d56-fd13-4213-8e29-2a99fee0a055 1 248801953 248801954 - T INS OR2T35 ENST00000317450 human ensembl 69_37n -1 known frame_shift_ins c.607_606 p.C202fs 0.101:0.095 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2T35 HGNC ENSG00000177151 8 0 0.00 10 4 28.57 - - - OR2T35 0 genome.wustl.edu 37 1 248801953 248801954 + Frame_Shift_Ins INS - - T TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 1 248801953 248801954 - T INS OR2T35 ENST00000317450 human ensembl 69_37n -1 known frame_shift_ins c.607_606 p.C202fs 0.101:0.095 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2T35 HGNC ENSG00000177151 11 0 0.00 10 4 28.57 - - - OR4A15 0 genome.wustl.edu 37 11 55135676 55135676 + Missense_Mutation SNP C C A TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 11 55135676 55135676 C A SNP OR4A15 ENST00000314706 human ensembl 69_37n +1 known missense c.317 p.A106D 0.003 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4A15 HGNC ENSG00000181958 479 0 0.00 323 172 34.75 - - - PBRM1 0 genome.wustl.edu 37 3 52584437 52584438 + Frame_Shift_Ins INS - - T TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 3 52584437 52584438 - T INS PBRM1 ENST00000296302 human ensembl 69_37n -1 known frame_shift_ins c.4897_4896 p.A1632fs 1.000:1.000 NULL pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_superfamily,superfamily_Bromodomain,superfamily_HMG_superfamily,smart_Bromodomain,smart_BAH_dom,smart_HMG_superfamily,pfscan_BAH_dom,pfscan_HMG_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 62 0 0.00 32 4 11.11 - - - PI3 0 genome.wustl.edu 37 20 43804672 43804672 + Missense_Mutation SNP G G A TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 20 43804672 43804672 G A SNP PI3 ENST00000243924 human ensembl 69_37n +1 known missense c.250 p.A84T 0.001 pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core pfam_Trappin_transglut-bd_rpt,pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,prints_4-disulphide_core - no_errors PI3 HGNC ENSG00000124102 240 0 0.00 130 76 36.89 - - - PLEKHF2 0 genome.wustl.edu 37 8 96166776 96166776 + Silent SNP T T C TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 8 96166776 96166776 T C SNP PLEKHF2 ENST00000315367 human ensembl 69_37n +1 known silent c.504 p.P168 0.996 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_Znf_FYVE_PHD,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel - no_errors PLEKHF2 HGNC ENSG00000175895 190 0 0.00 591 102 14.70 - - - PMCHL1 0 genome.wustl.edu 37 5 22142618 22142618 + RNA SNP C C T TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 5 22142618 22142618 C T SNP PMCHL1 ENST00000418902 human ensembl 69_37n +1 known rna NULL NULL 0.999 - - - no_errors PMCHL1 HGNC ENSG00000168967 93 0 0.00 48 25 34.25 - - - POTEF 0 genome.wustl.edu 37 2 130832165 130832165 + Silent SNP C C T TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 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 21 0 0.00 21 7 25.00 - - - PXDN 0 genome.wustl.edu 37 2 1652010 1652010 + Missense_Mutation SNP G G A TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 2 1652010 1652010 G A SNP PXDN ENST00000252804 human ensembl 69_37n -1 known missense c.3542 p.A1181V 0.736 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDN HGNC ENSG00000130508 126 1 0.79 24 40 62.50 - - - QRFP 0 genome.wustl.edu 37 9 133769047 133769048 + Frame_Shift_Ins INS - - CT TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 bd560d56-fd13-4213-8e29-2a99fee0a055 9 133769047 133769048 - CT INS QRFP ENST00000343079 human ensembl 69_37n -1 known frame_shift_ins c.179_178 p.R60fs 0.000:0.000 pfam_P518 pfam_P518 - no_errors QRFP HGNC ENSG00000188710 27 0 0.00 15 14 48.28 - - - QRFP 0 genome.wustl.edu 37 9 133769047 133769048 + Frame_Shift_Ins INS - - CT TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 9 133769047 133769048 - CT INS QRFP ENST00000343079 human ensembl 69_37n -1 known frame_shift_ins c.179_178 p.R60fs 0.000:0.000 pfam_P518 pfam_P518 - no_errors QRFP HGNC ENSG00000188710 29 0 0.00 15 14 48.28 - - - RCOR2 0 genome.wustl.edu 37 11 63681584 63681585 + Frame_Shift_Ins INS - - CTAT TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 bd560d56-fd13-4213-8e29-2a99fee0a055 11 63681584 63681585 - CTAT INS RCOR2 ENST00000301459 human ensembl 69_37n -1 known frame_shift_ins c.733_732 p.V244fs 0.846:0.963 NULL pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors RCOR2 HGNC ENSG00000167771 8 0 0.00 15 7 31.82 - - - RCOR2 0 genome.wustl.edu 37 11 63681584 63681585 + Frame_Shift_Ins INS - - CTAT TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 11 63681584 63681585 - CTAT INS RCOR2 ENST00000301459 human ensembl 69_37n -1 known frame_shift_ins c.733_732 p.V244fs 0.846:0.963 NULL pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors RCOR2 HGNC ENSG00000167771 24 0 0.00 15 7 31.82 - - - RTN2 0 genome.wustl.edu 37 19 45997475 45997475 + Frame_Shift_Del DEL A A - TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 bd560d56-fd13-4213-8e29-2a99fee0a055 19 45997475 45997475 A - DEL RTN2 ENST00000245923 human ensembl 69_37n -1 known frame_shift_del c.763 p.C255fs 0.963 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 57 0 0.00 29 17 36.17 - - - RTN2 0 genome.wustl.edu 37 19 45997475 45997475 + Frame_Shift_Del DEL A A - TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 19 45997475 45997475 A - DEL RTN2 ENST00000245923 human ensembl 69_37n -1 known frame_shift_del c.763 p.C255fs 0.963 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 54 0 0.00 29 17 36.17 - - - SEC24B 0 genome.wustl.edu 37 4 110394171 110394171 + Missense_Mutation SNP T T G TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 4 110394171 110394171 T G SNP SEC24B ENST00000265175 human ensembl 69_37n +1 known missense c.889 p.L297V 0.697 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC ENSG00000138802 229 0 0.00 140 39 21.79 - - - SKIL 0 genome.wustl.edu 37 3 170078760 170078760 + Missense_Mutation SNP A A G TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 3 170078760 170078760 A G SNP SKIL ENST00000259119 human ensembl 69_37n +1 known missense c.641 p.N214S 1.000 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKIL HGNC ENSG00000136603 80 0 0.00 118 18 13.24 - - - SLC10A4 0 genome.wustl.edu 37 4 48490772 48490773 + Frame_Shift_Del DEL TT TT - TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-10A-01W-A071-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 bd560d56-fd13-4213-8e29-2a99fee0a055 4 48490772 48490773 TT - DEL SLC10A4 ENST00000273861 human ensembl 69_37n +1 known frame_shift_del c.1130_1131 p.F378fs 0.635:0.497 NULL pfam_BilAc/Na_symport - no_errors SLC10A4 HGNC ENSG00000145248 37 0 0.00 45 27 37.50 - - - SLC10A4 0 genome.wustl.edu 37 4 48490772 48490773 + Frame_Shift_Del DEL TT TT - TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 4 48490772 48490773 TT - DEL SLC10A4 ENST00000273861 human ensembl 69_37n +1 known frame_shift_del c.1130_1131 p.F378fs 0.635:0.497 NULL pfam_BilAc/Na_symport - no_errors SLC10A4 HGNC ENSG00000145248 37 0 0.00 45 27 37.50 - - - SLC10A4 0 genome.wustl.edu 37 4 48490777 48490778 + In_Frame_Ins INS - - ACA TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 bd560d56-fd13-4213-8e29-2a99fee0a055 4 48490777 48490778 - ACA INS SLC10A4 ENST00000273861 human ensembl 69_37n +1 known in_frame_ins c.1135_1136 p.V379in_frame_insDI 1.000:1.000 NULL pfam_BilAc/Na_symport - no_errors SLC10A4 HGNC ENSG00000145248 38 0 0.00 35 27 43.55 - - - SLC10A4 0 genome.wustl.edu 37 4 48490777 48490778 + In_Frame_Ins INS - - ACA TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 4 48490777 48490778 - ACA INS SLC10A4 ENST00000273861 human ensembl 69_37n +1 known in_frame_ins c.1135_1136 p.V379in_frame_insDI 1.000:1.000 NULL pfam_BilAc/Na_symport - no_errors SLC10A4 HGNC ENSG00000145248 38 0 0.00 35 27 43.55 - - - SPAG16 0 genome.wustl.edu 37 2 214215282 214215282 + Silent SNP G G A TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 2 214215282 214215282 G A SNP SPAG16 ENST00000331683 human ensembl 69_37n +1 known silent c.675 p.P225 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SPAG16 HGNC ENSG00000144451 297 0 0.00 227 84 26.92 - - - SPR 0 genome.wustl.edu 37 2 73118645 73118645 + Silent SNP C C T TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 bd560d56-fd13-4213-8e29-2a99fee0a055 2 73118645 73118645 C T SNP SPR ENST00000234454 human ensembl 69_37n +1 known silent c.765 p.H255 0.713 tigrfam_Sepiapterin_red pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,tigrfam_Sepiapterin_red - no_errors SPR HGNC ENSG00000116096 80 0 0.00 69 19 21.59 - - - SPR 0 genome.wustl.edu 37 2 73118645 73118645 + Silent SNP C C T TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 2 73118645 73118645 C T SNP SPR ENST00000234454 human ensembl 69_37n +1 known silent c.765 p.H255 0.713 tigrfam_Sepiapterin_red pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,tigrfam_Sepiapterin_red - no_errors SPR HGNC ENSG00000116096 47 0 0.00 69 19 21.59 - - - TBC1D3P5 0 genome.wustl.edu 37 17 25749251 25749251 + RNA SNP A A G TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 bd560d56-fd13-4213-8e29-2a99fee0a055 17 25749251 25749251 A G SNP TBC1D3P5 ENST00000586223 human ensembl 69_37n +1 known rna NULL NULL 0.142 - - - no_errors TBC1D3P5 HGNC ENSG00000266433 16 0 0.00 6 6 50.00 - - - TBC1D3P5 0 genome.wustl.edu 37 17 25749251 25749251 + RNA SNP A A G TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 17 25749251 25749251 A G SNP TBC1D3P5 ENST00000586223 human ensembl 69_37n +1 known rna NULL NULL 0.142 - - - no_errors TBC1D3P5 HGNC ENSG00000266433 27 0 0.00 6 6 50.00 - - - TBP 0 genome.wustl.edu 37 6 170871052 170871052 + Silent SNP G G A TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 bd560d56-fd13-4213-8e29-2a99fee0a055 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 34 0 0.00 35 8 18.60 - - - THUMPD2 0 genome.wustl.edu 37 2 39983082 39983082 + Missense_Mutation SNP C C T TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 2 39983082 39983082 C T SNP THUMPD2 ENST00000505747 human ensembl 69_37n -1 known missense c.910 p.D304N 1.000 pfam_RNA_methylase_dom,pfam_Methyltransf_11,pfam_Small_mtfrase_dom,pfam_UbiE/COQ5_MeTrFase pfam_RNA_methylase_dom,pfam_Methyltransf_11,pfam_THUMP,pfam_Small_mtfrase_dom,pfam_UbiE/COQ5_MeTrFase,smart_THUMP,pfscan_THUMP - no_errors THUMPD2 HGNC ENSG00000138050 109 0 0.00 81 15 15.62 - - - TNS1 0 genome.wustl.edu 37 2 218696257 218696258 + Frame_Shift_Ins INS - - G TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 2 218696257 218696258 - G INS TNS1 ENST00000171887 human ensembl 69_37n -1 known frame_shift_ins c.2919_2918 p.L975fs 0.910:1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 16 0 0.00 11 2 15.38 - - - TP53 0 genome.wustl.edu 37 17 7577547 7577547 + Missense_Mutation SNP C C T TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 17 7577547 7577547 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.734 p.G245D 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 97 0 0.00 22 39 63.93 - - - TPSAB1 0 genome.wustl.edu 37 16 1291454 1291454 + Missense_Mutation SNP G G A TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 16 1291454 1291454 G A SNP TPSAB1 ENST00000562675 human ensembl 69_37n +1 known missense c.253 p.A85T 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TPSAB1 HGNC ENSG00000172236 10 0 0.00 1 3 75.00 - - - TRAIP 0 genome.wustl.edu 37 3 49878478 49878478 + Silent SNP C C A TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 3 49878478 49878478 C A SNP TRAIP ENST00000331456 human ensembl 69_37n -1 known silent c.645 p.R215 1.000 superfamily_Prefoldin pfam_Znf_C3HC4_RING-type,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors TRAIP HGNC ENSG00000183763 175 0 0.00 39 60 60.61 - - - USP34 0 genome.wustl.edu 37 2 61417673 61417673 + Missense_Mutation SNP T T C TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 2 61417673 61417673 T C SNP USP34 ENST00000398571 human ensembl 69_37n -1 known missense c.9709 p.M3237V 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC ENSG00000115464 98 0 0.00 80 16 16.67 - - - XPNPEP3 0 genome.wustl.edu 37 22 41265020 41265020 + Nonsense_Mutation SNP C C T TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 bd560d56-fd13-4213-8e29-2a99fee0a055 22 41265020 41265020 C T SNP XPNPEP3 ENST00000357137 human ensembl 69_37n +1 known nonsense c.82 p.Q28* 0.537 NULL pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain - no_errors XPNPEP3 HGNC ENSG00000196236 221 0 0.00 211 36 14.57 - - - XPNPEP3 0 genome.wustl.edu 37 22 41265020 41265020 + Nonsense_Mutation SNP C C T TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 22 41265020 41265020 C T SNP XPNPEP3 ENST00000357137 human ensembl 69_37n +1 known nonsense c.82 p.Q28* 0.537 NULL pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain - no_errors XPNPEP3 HGNC ENSG00000196236 269 0 0.00 211 36 14.57 - - - ZNF513 0 genome.wustl.edu 37 2 27600657 27600657 + Missense_Mutation SNP G G A TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 bd560d56-fd13-4213-8e29-2a99fee0a055 2 27600657 27600657 G A SNP ZNF513 ENST00000323703 human ensembl 69_37n -1 known missense c.1381 p.R461C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF513 HGNC ENSG00000163795 52 0 0.00 70 9 11.39 - - - ZNF513 0 genome.wustl.edu 37 2 27600657 27600657 + Missense_Mutation SNP G G A TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 2 27600657 27600657 G A SNP ZNF513 ENST00000323703 human ensembl 69_37n -1 known missense c.1381 p.R461C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF513 HGNC ENSG00000163795 73 0 0.00 70 9 11.39 - - - ZNF536 0 genome.wustl.edu 37 19 31038893 31038893 + Silent SNP G G A TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 19 31038893 31038893 G A SNP ZNF536 ENST00000355537 human ensembl 69_37n +1 known silent c.2367 p.T789 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 142 1 0.70 69 50 42.02 - - - ZNF646 0 genome.wustl.edu 37 16 31088893 31088894 + Frame_Shift_Ins INS - - A TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8623830e-3fdd-4707-83e9-5f528105aa55 51420539-3e3b-4b35-8041-3ec47b0adeea 16 31088893 31088894 - A INS ZNF646 ENST00000300850 human ensembl 69_37n +1 known frame_shift_ins c.1248_1249 p.N417fs 0.970:0.996 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 8 0 0.00 10 2 16.67 - - -