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 ACTL9 0 genome.wustl.edu 37 19 8807880 8807880 + Missense_Mutation SNP C C T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 19 8807880 8807880 C T SNP ACTL9 ENST00000324436 human ensembl 69_37n -1 known missense c.1172 p.R391H 0.971 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL9 HGNC ENSG00000181786 68 0 0.00 46 15 24.19 - - - ACTL9 0 genome.wustl.edu 37 19 8807880 8807880 + Missense_Mutation SNP C C T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 19 8807880 8807880 C T SNP ACTL9 ENST00000324436 human ensembl 69_37n -1 known missense c.1172 p.R391H 0.971 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL9 HGNC ENSG00000181786 123 0 0.00 46 15 24.19 - - - ADORA3 0 genome.wustl.edu 37 1 112032289 112032289 + RNA SNP G G A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 1 112032289 112032289 G A SNP ADORA3 ENST00000463993 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ADORA3 HGNC ENSG00000121933 56 0 0.00 24 13 35.14 - - - ADORA3 0 genome.wustl.edu 37 1 112032289 112032289 + RNA SNP G G A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 1 112032289 112032289 G A SNP ADORA3 ENST00000463993 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ADORA3 HGNC ENSG00000121933 119 0 0.00 24 13 35.14 - - - ANK2 0 genome.wustl.edu 37 4 114267087 114267087 + Missense_Mutation SNP G G A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 4 114267087 114267087 G A SNP ANK2 ENST00000357077 human ensembl 69_37n +1 known missense c.4280 p.R1427Q 1.000 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 ANK2 HGNC ENSG00000145362 45 0 0.00 36 16 30.77 - - - ANK2 0 genome.wustl.edu 37 4 114267087 114267087 + Missense_Mutation SNP G G A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 4 114267087 114267087 G A SNP ANK2 ENST00000357077 human ensembl 69_37n +1 known missense c.4280 p.R1427Q 1.000 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 ANK2 HGNC ENSG00000145362 58 0 0.00 36 16 30.77 - - - ANKRD20A1 0 genome.wustl.edu 37 9 67934804 67934804 + Missense_Mutation SNP T T A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 9 67934804 67934804 T A SNP ANKRD20A1 ENST00000377477 human ensembl 69_37n +1 known missense c.574 p.S192T 0.007 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,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 ANKRD20A1 HGNC ENSG00000196774 30 0 0.00 37 14 27.45 - - - BTBD11 0 genome.wustl.edu 37 12 108011110 108011110 + Missense_Mutation SNP C C T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 12 108011110 108011110 C T SNP BTBD11 ENST00000280758 human ensembl 69_37n +1 known missense c.2128 p.R710C 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 69 0 0.00 50 15 23.08 - - - BTBD11 0 genome.wustl.edu 37 12 108011110 108011110 + Missense_Mutation SNP C C T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 12 108011110 108011110 C T SNP BTBD11 ENST00000280758 human ensembl 69_37n +1 known missense c.2128 p.R710C 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 119 0 0.00 50 15 23.08 - - - C3orf52 0 genome.wustl.edu 37 3 111805270 111805270 + Missense_Mutation SNP C C T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 3 111805270 111805270 C T SNP C3orf52 ENST00000431717 human ensembl 69_37n +1 known missense c.16 p.P6S 0.000 NULL NULL - no_errors C3orf52 HGNC ENSG00000114529 69 0 0.00 39 11 22.00 - - - C3orf52 0 genome.wustl.edu 37 3 111805270 111805270 + Missense_Mutation SNP C C T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 3 111805270 111805270 C T SNP C3orf52 ENST00000431717 human ensembl 69_37n +1 known missense c.16 p.P6S 0.000 NULL NULL - no_errors C3orf52 HGNC ENSG00000114529 108 0 0.00 39 11 22.00 - - - C8orf47 0 genome.wustl.edu 37 8 99101489 99101489 + Missense_Mutation SNP C C A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 8 99101489 99101489 C A SNP C8orf47 ENST00000318528 human ensembl 69_37n +1 known missense c.244 p.Q82K 0.025 NULL NULL - no_errors C8orf47 HGNC ENSG00000177459 21 0 0.00 16 6 27.27 - - - C8orf47 0 genome.wustl.edu 37 8 99101489 99101489 + Missense_Mutation SNP C C A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 8 99101489 99101489 C A SNP C8orf47 ENST00000318528 human ensembl 69_37n +1 known missense c.244 p.Q82K 0.025 NULL NULL - no_errors C8orf47 HGNC ENSG00000177459 58 0 0.00 16 6 27.27 - - - C9orf43 0 genome.wustl.edu 37 9 116187646 116187648 + In_Frame_Del DEL GCA GCA - TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 9 116187646 116187648 GCA - DEL C9orf43 ENST00000288462 human ensembl 69_37n +1 known in_frame_del c.888_890 p.Q300in_frame_del 0.211:0.207:0.211 NULL NULL - no_errors C9orf43 HGNC ENSG00000157653 35 0 0.00 27 4 12.90 - - - CACNA1E 0 genome.wustl.edu 37 1 181765969 181765969 + Missense_Mutation SNP G G T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 1 181765969 181765969 G T SNP CACNA1E ENST00000367573 human ensembl 69_37n +1 known missense c.6374 p.G2125V 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 38 0 0.00 33 12 26.67 - - - CACNA1E 0 genome.wustl.edu 37 1 181765969 181765969 + Missense_Mutation SNP G G T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 1 181765969 181765969 G T SNP CACNA1E ENST00000367573 human ensembl 69_37n +1 known missense c.6374 p.G2125V 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 46 0 0.00 33 12 26.67 - - - CBLN4 0 genome.wustl.edu 37 20 54579033 54579033 + Silent SNP C C T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 20 54579033 54579033 C T SNP CBLN4 ENST00000064571 human ensembl 69_37n -1 known silent c.195 p.R65 1.000 smart_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN4 HGNC ENSG00000054803 59 0 0.00 26 4 13.33 - - - CBY1 0 genome.wustl.edu 37 22 39069235 39069235 + Frame_Shift_Del DEL A A - TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 22 39069235 39069235 A - DEL CBY1 ENST00000216029 human ensembl 69_37n +1 known frame_shift_del c.375 p.K126fs 0.949 NULL NULL - no_errors CBY1 HGNC ENSG00000100211 105 0 0.00 42 21 33.33 - - - CBY1 0 genome.wustl.edu 37 22 39069235 39069235 + Frame_Shift_Del DEL A A - TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 22 39069235 39069235 A - DEL CBY1 ENST00000216029 human ensembl 69_37n +1 known frame_shift_del c.375 p.K126fs 0.949 NULL NULL - no_errors CBY1 HGNC ENSG00000100211 137 0 0.00 42 21 33.33 - - - CD74 0 genome.wustl.edu 37 5 149784309 149784309 + Missense_Mutation SNP G G T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 5 149784309 149784309 G T SNP CD74 ENST00000009530 human ensembl 69_37n -1 known missense c.559 p.H187N 1.000 pfam_MHC_II-assoc_invariant_trimer,superfamily_MHC_II-assoc_invariant_trimer,superfamily_Thyroglobulin_1,pirsf_MHC_II-assoc_invar_chain,prints_MHC_II-assoc_invar_chain pfam_MHC_II-assoc_invar/CLIP_MHC-bd,pfam_MHC_II-assoc_invariant_trimer,pfam_Thyroglobulin_1,superfamily_MHC_II-assoc_invariant_trimer,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_MHC_II-assoc_invar_chain,pfscan_Thyroglobulin_1,prints_MHC_II-assoc_invar_chain - no_errors CD74 HGNC ENSG00000019582 28 0 0.00 17 4 19.05 - - - CD74 0 genome.wustl.edu 37 5 149784309 149784309 + Missense_Mutation SNP G G T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 5 149784309 149784309 G T SNP CD74 ENST00000009530 human ensembl 69_37n -1 known missense c.559 p.H187N 1.000 pfam_MHC_II-assoc_invariant_trimer,superfamily_MHC_II-assoc_invariant_trimer,superfamily_Thyroglobulin_1,pirsf_MHC_II-assoc_invar_chain,prints_MHC_II-assoc_invar_chain pfam_MHC_II-assoc_invar/CLIP_MHC-bd,pfam_MHC_II-assoc_invariant_trimer,pfam_Thyroglobulin_1,superfamily_MHC_II-assoc_invariant_trimer,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_MHC_II-assoc_invar_chain,pfscan_Thyroglobulin_1,prints_MHC_II-assoc_invar_chain - no_errors CD74 HGNC ENSG00000019582 62 0 0.00 17 4 19.05 - - - CDH1 0 genome.wustl.edu 37 16 68845617 68845618 + Frame_Shift_Del DEL AC AC - TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 16 68845617 68845618 AC - DEL CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_del c.863_864 p.D288fs 0.991:0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 85 0 0.00 43 7 13.73 - - - CDH1 0 genome.wustl.edu 37 16 68845617 68845618 + Frame_Shift_Del DEL AC AC - TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 16 68845617 68845618 AC - DEL CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_del c.863_864 p.D288fs 0.991:0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 119 0 0.00 43 7 13.73 - - - CDKL3 0 genome.wustl.edu 37 5 133644285 133644285 + Missense_Mutation SNP T T G TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 5 133644285 133644285 T G SNP CDKL3 ENST00000265334 human ensembl 69_37n -1 known missense c.1015 p.S339R 0.126 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 CDKL3 HGNC ENSG00000006837 45 0 0.00 26 5 16.13 - - - CDKL3 0 genome.wustl.edu 37 5 133644285 133644285 + Missense_Mutation SNP T T G TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 5 133644285 133644285 T G SNP CDKL3 ENST00000265334 human ensembl 69_37n -1 known missense c.1015 p.S339R 0.126 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 CDKL3 HGNC ENSG00000006837 50 0 0.00 26 5 16.13 - - - CHD7 0 genome.wustl.edu 37 8 61655528 61655528 + Missense_Mutation SNP A A T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 8 61655528 61655528 A T SNP CHD7 ENST00000307121 human ensembl 69_37n +1 known missense c.1537 p.T513S 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,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 CHD7 HGNC ENSG00000171316 29 0 0.00 31 7 18.42 - - - CHD7 0 genome.wustl.edu 37 8 61655528 61655528 + Missense_Mutation SNP A A T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 8 61655528 61655528 A T SNP CHD7 ENST00000307121 human ensembl 69_37n +1 known missense c.1537 p.T513S 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,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 CHD7 HGNC ENSG00000171316 63 0 0.00 31 7 18.42 - - - CSNK1E 0 genome.wustl.edu 37 22 38710134 38710134 + Missense_Mutation SNP C C A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 22 38710134 38710134 C A SNP CSNK1E ENST00000359867 human ensembl 69_37n -1 known missense c.29 p.R10L 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CSNK1E HGNC ENSG00000213923 53 0 0.00 27 5 15.62 - - - CSNK1E 0 genome.wustl.edu 37 22 38710134 38710134 + Missense_Mutation SNP C C A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 22 38710134 38710134 C A SNP CSNK1E ENST00000359867 human ensembl 69_37n -1 known missense c.29 p.R10L 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CSNK1E HGNC ENSG00000213923 90 0 0.00 27 5 15.62 - - - CYP2A13 0 genome.wustl.edu 37 19 41596408 41596408 + Missense_Mutation SNP T T G TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 19 41596408 41596408 T G SNP CYP2A13 ENST00000330436 human ensembl 69_37n +1 known missense c.593 p.F198C 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 183 0 0.00 127 36 22.09 - - - CYP2A13 0 genome.wustl.edu 37 19 41596408 41596408 + Missense_Mutation SNP T T G TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 19 41596408 41596408 T G SNP CYP2A13 ENST00000330436 human ensembl 69_37n +1 known missense c.593 p.F198C 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 246 0 0.00 127 36 22.09 - - - DAAM1 0 genome.wustl.edu 37 14 59836141 59836141 + RNA SNP A A G TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 14 59836141 59836141 A G SNP DAAM1 ENST00000553966 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors DAAM1 HGNC ENSG00000100592 85 0 0.00 67 17 20.24 - - - DAAM1 0 genome.wustl.edu 37 14 59836141 59836141 + RNA SNP A A G TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 14 59836141 59836141 A G SNP DAAM1 ENST00000553966 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors DAAM1 HGNC ENSG00000100592 110 0 0.00 67 17 20.24 - - - DAPK1 0 genome.wustl.edu 37 9 90321697 90321697 + Silent SNP G G A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 9 90321697 90321697 G A SNP DAPK1 ENST00000469640 human ensembl 69_37n +1 known silent c.3786 p.L1262 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 23 0 0.00 20 4 16.67 - - - DAPK1 0 genome.wustl.edu 37 9 90321697 90321697 + Silent SNP G G A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 9 90321697 90321697 G A SNP DAPK1 ENST00000469640 human ensembl 69_37n +1 known silent c.3786 p.L1262 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 54 0 0.00 20 4 16.67 - - - EIF2C2 0 genome.wustl.edu 37 8 141549448 141549448 + Missense_Mutation SNP G G A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 8 141549448 141549448 G A SNP EIF2C2 ENST00000220592 human ensembl 69_37n -1 known missense c.2140 p.R714W 0.083 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C2 HGNC ENSG00000123908 56 0 0.00 73 35 32.41 - - - EIF2C2 0 genome.wustl.edu 37 8 141549448 141549448 + Missense_Mutation SNP G G A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 8 141549448 141549448 G A SNP EIF2C2 ENST00000220592 human ensembl 69_37n -1 known missense c.2140 p.R714W 0.083 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C2 HGNC ENSG00000123908 112 0 0.00 73 35 32.41 - - - F13B 0 genome.wustl.edu 37 1 197026274 197026274 + Missense_Mutation SNP G G T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 1 197026274 197026274 G T SNP F13B ENST00000367412 human ensembl 69_37n -1 known missense c.1040 p.A347E 0.020 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 35 0 0.00 53 12 18.46 - - - F13B 0 genome.wustl.edu 37 1 197026274 197026274 + Missense_Mutation SNP G G T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 1 197026274 197026274 G T SNP F13B ENST00000367412 human ensembl 69_37n -1 known missense c.1040 p.A347E 0.020 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 78 0 0.00 53 12 18.46 - - - FAM83H 0 genome.wustl.edu 37 8 144808720 144808720 + Missense_Mutation SNP G G T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 8 144808720 144808720 G T SNP FAM83H ENST00000388913 human ensembl 69_37n -1 known missense c.2911 p.Q971K 1.000 NULL pfam_DUF1669 - no_errors FAM83H HGNC ENSG00000180921 24 0 0.00 5 3 37.50 - - - HK1 0 genome.wustl.edu 37 10 71129355 71129355 + Missense_Mutation SNP G G A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 10 71129355 71129355 G A SNP HK1 ENST00000448642 human ensembl 69_37n +1 known missense c.955 p.G319R 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK1 HGNC ENSG00000156515 36 0 0.00 40 11 21.57 - - - HK1 0 genome.wustl.edu 37 10 71129355 71129355 + Missense_Mutation SNP G G A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 10 71129355 71129355 G A SNP HK1 ENST00000448642 human ensembl 69_37n +1 known missense c.955 p.G319R 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK1 HGNC ENSG00000156515 68 0 0.00 40 11 21.57 - - - HOXA3 0 genome.wustl.edu 37 7 27148062 27148062 + Silent SNP G G A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 7 27148062 27148062 G A SNP HOXA3 ENST00000317201 human ensembl 69_37n -1 known silent c.804 p.P268 0.002 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXA3 HGNC ENSG00000105997 53 0 0.00 46 16 25.81 - - - HOXA3 0 genome.wustl.edu 37 7 27148062 27148062 + Silent SNP G G A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 7 27148062 27148062 G A SNP HOXA3 ENST00000317201 human ensembl 69_37n -1 known silent c.804 p.P268 0.002 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXA3 HGNC ENSG00000105997 102 0 0.00 46 16 25.81 - - - KLHL15 0 genome.wustl.edu 37 X 24006791 24006791 + Silent SNP C C T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 X 24006791 24006791 C T SNP KLHL15 ENST00000328046 human ensembl 69_37n -1 known silent c.1062 p.P354 0.159 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL15 HGNC ENSG00000174010 46 0 0.00 36 14 28.00 - - - KLHL15 0 genome.wustl.edu 37 X 24006791 24006791 + Silent SNP C C T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee X 24006791 24006791 C T SNP KLHL15 ENST00000328046 human ensembl 69_37n -1 known silent c.1062 p.P354 0.159 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL15 HGNC ENSG00000174010 115 0 0.00 36 14 28.00 - - - KRTAP9-1 0 genome.wustl.edu 37 17 39346498 39346498 + Missense_Mutation SNP C C G TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 17 39346498 39346498 C G SNP KRTAP9-1 ENST00000398470 human ensembl 69_37n +1 known missense c.360 p.H120Q 0.000 NULL NULL - no_errors KRTAP9-1 HGNC ENSG00000240542 149 0 0.00 120 42 25.93 - - - KRTAP9-1 0 genome.wustl.edu 37 17 39346498 39346498 + Missense_Mutation SNP C C G TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 17 39346498 39346498 C G SNP KRTAP9-1 ENST00000398470 human ensembl 69_37n +1 known missense c.360 p.H120Q 0.000 NULL NULL - no_errors KRTAP9-1 HGNC ENSG00000240542 267 0 0.00 120 42 25.93 - - - LYSMD1 0 genome.wustl.edu 37 1 151137721 151137721 + Missense_Mutation SNP G G A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 1 151137721 151137721 G A SNP LYSMD1 ENST00000368908 human ensembl 69_37n -1 known missense c.14 p.S5F 0.995 NULL pfam_Peptidoglycan-bd_lysin,smart_Peptidoglycan-bd_Lysin_subgr - no_errors LYSMD1 HGNC ENSG00000163155 27 0 0.00 20 10 33.33 - - - LYSMD1 0 genome.wustl.edu 37 1 151137721 151137721 + Missense_Mutation SNP G G A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 1 151137721 151137721 G A SNP LYSMD1 ENST00000368908 human ensembl 69_37n -1 known missense c.14 p.S5F 0.995 NULL pfam_Peptidoglycan-bd_lysin,smart_Peptidoglycan-bd_Lysin_subgr - no_errors LYSMD1 HGNC ENSG00000163155 44 0 0.00 20 10 33.33 - - - NAT16 0 genome.wustl.edu 37 7 100815570 100815570 + Missense_Mutation SNP G G T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 7 100815570 100815570 G T SNP NAT16 ENST00000300303 human ensembl 69_37n -1 known missense c.900 p.D300E 0.098 NULL superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT16 HGNC ENSG00000167011 34 0 0.00 13 3 18.75 - - - NOTCH2 0 genome.wustl.edu 37 1 120465373 120465373 + Missense_Mutation SNP G G C TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 1 120465373 120465373 G C SNP NOTCH2 ENST00000256646 human ensembl 69_37n -1 known missense c.4888 p.R1630G 1.000 pirsf_Notch,pfam_Notch_NODP_dom pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 73 0 0.00 19 5 20.83 - - - NOTCH2NL 0 genome.wustl.edu 37 1 145290819 145290819 + RNA SNP G G A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 1 145290819 145290819 G A SNP NOTCH2NL ENST00000479995 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors NOTCH2NL HGNC ENSG00000213240 35 0 0.00 30 5 14.29 - - - NRK 0 genome.wustl.edu 37 X 105179171 105179171 + Missense_Mutation SNP G G T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 X 105179171 105179171 G T SNP NRK ENST00000428173 human ensembl 69_37n +1 known missense c.3512 p.G1171V 0.058 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors NRK HGNC ENSG00000123572 81 0 0.00 66 13 16.46 - - - ODF3L2 0 genome.wustl.edu 37 19 463881 463881 + Missense_Mutation SNP C C T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 19 463881 463881 C T SNP ODF3L2 ENST00000315489 human ensembl 69_37n -1 known missense c.833 p.R278Q 0.000 NULL pfam_SHIPPO-rpt - no_errors ODF3L2 HGNC ENSG00000181781 32 0 0.00 14 3 17.65 - - - ODF3L2 0 genome.wustl.edu 37 19 463881 463881 + Missense_Mutation SNP C C T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 19 463881 463881 C T SNP ODF3L2 ENST00000315489 human ensembl 69_37n -1 known missense c.833 p.R278Q 0.000 NULL pfam_SHIPPO-rpt - no_errors ODF3L2 HGNC ENSG00000181781 46 0 0.00 14 3 17.65 - - - PLCL2 0 genome.wustl.edu 37 3 17052497 17052497 + Frame_Shift_Del DEL T T - TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 3 17052497 17052497 T - DEL PLCL2 ENST00000418129 human ensembl 69_37n +1 known frame_shift_del c.1281 p.Y428fs 0.992 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL2 HGNC ENSG00000154822 21 0 0.00 19 7 26.92 - - - PLCL2 0 genome.wustl.edu 37 3 17052497 17052497 + Frame_Shift_Del DEL T T - TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 3 17052497 17052497 T - DEL PLCL2 ENST00000418129 human ensembl 69_37n +1 known frame_shift_del c.1281 p.Y428fs 0.992 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL2 HGNC ENSG00000154822 27 0 0.00 19 7 26.92 - - - PRICKLE3 0 genome.wustl.edu 37 X 49040116 49040117 + Frame_Shift_Del DEL GT GT - TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 X 49040116 49040117 GT - DEL PRICKLE3 ENST00000536904 human ensembl 69_37n -1 known frame_shift_del c.179_178 p.T60fs 0.149:0.119 NULL pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE3 HGNC ENSG00000012211 50 0 0.00 25 3 10.71 - - - PYGB 0 genome.wustl.edu 37 20 25273190 25273190 + Missense_Mutation SNP C C G TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 20 25273190 25273190 C G SNP PYGB ENST00000428458 human ensembl 69_37n +1 known missense c.374 p.P125R 0.017 pfam_Glyco_trans_35 pfam_Glyco_trans_35 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PYGB HGNC ENSG00000100994 93 0 0.00 63 25 28.09 - - - PYGB 0 genome.wustl.edu 37 20 25273190 25273190 + Missense_Mutation SNP C C G TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 20 25273190 25273190 C G SNP PYGB ENST00000428458 human ensembl 69_37n +1 known missense c.374 p.P125R 0.017 pfam_Glyco_trans_35 pfam_Glyco_trans_35 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PYGB HGNC ENSG00000100994 143 0 0.00 63 25 28.09 - - - RIMBP2 0 genome.wustl.edu 37 12 130921495 130921495 + Silent SNP C C A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 12 130921495 130921495 C A SNP RIMBP2 ENST00000261655 human ensembl 69_37n -1 known silent c.1947 p.S649 0.001 NULL 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 46 0 0.00 24 8 25.00 - - - RIMBP2 0 genome.wustl.edu 37 12 130921495 130921495 + Silent SNP C C A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 12 130921495 130921495 C A SNP RIMBP2 ENST00000261655 human ensembl 69_37n -1 known silent c.1947 p.S649 0.001 NULL 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 52 0 0.00 24 8 25.00 - - - SEL1L2 0 genome.wustl.edu 37 20 13830252 13830252 + Splice_Site SNP T T A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 20 13830252 13830252 T A SNP SEL1L2 ENST00000284951 human ensembl 69_37n -1 known splice_site c.1948-2 e20-2 0.998 - - - no_errors SEL1L2 HGNC ENSG00000101251 39 0 0.00 26 8 23.53 - - - SEL1L2 0 genome.wustl.edu 37 20 13830252 13830252 + Splice_Site SNP T T A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 20 13830252 13830252 T A SNP SEL1L2 ENST00000284951 human ensembl 69_37n -1 known splice_site c.1948-2 e20-2 0.998 - - - no_errors SEL1L2 HGNC ENSG00000101251 57 0 0.00 26 8 23.53 - - - TRAT1 0 genome.wustl.edu 37 3 108541770 108541770 + RNA SNP G G T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 3 108541770 108541770 G T SNP TRAT1 ENST00000493604 human ensembl 69_37n +1 known rna NULL NULL 0.255 - - - no_errors TRAT1 HGNC ENSG00000163519 61 0 0.00 49 18 26.87 - - - TRAT1 0 genome.wustl.edu 37 3 108541770 108541770 + RNA SNP G G T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 3 108541770 108541770 G T SNP TRAT1 ENST00000493604 human ensembl 69_37n +1 known rna NULL NULL 0.255 - - - no_errors TRAT1 HGNC ENSG00000163519 119 0 0.00 49 18 26.87 - - - VEGFA 0 genome.wustl.edu 37 6 43739002 43739003 + Frame_Shift_Ins INS - - G TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 6 43739002 43739003 - G INS VEGFA ENST00000372055 human ensembl 69_37n +1 known frame_shift_ins c.559_560 p.V188fs 1.000:1.000 NULL pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor - no_errors VEGFA HGNC ENSG00000112715 49 0 0.00 16 2 11.11 - - - VWA5B1 0 genome.wustl.edu 37 1 20645945 20645945 + Frame_Shift_Del DEL G G - TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 1 20645945 20645945 G - DEL VWA5B1 ENST00000375089 human ensembl 69_37n +1 known frame_shift_del c.912 p.G305fs 1.000 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC ENSG00000158816 54 0 0.00 15 2 11.11 - - - WASH6P 0 genome.wustl.edu 37 X 155254531 155254531 + RNA SNP T T G TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee X 155254531 155254531 T G SNP WASH6P ENST00000461007 human ensembl 69_37n +1 known rna NULL NULL 0.004 - - - no_errors WASH6P HGNC ENSG00000182484 17 0 0.00 7 3 30.00 - - - YIPF3 0 genome.wustl.edu 37 6 43483923 43483923 + Frame_Shift_Del DEL C C - TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 6 43483923 43483923 C - DEL YIPF3 ENST00000490447 human ensembl 69_37n -1 known frame_shift_del c.87 p.W29fs 0.002 NULL NULL - no_errors YIPF3 HGNC ENSG00000137207 9 0 0.00 3 2 40.00 - - - YIPF3 0 genome.wustl.edu 37 6 43483923 43483923 + Frame_Shift_Del DEL C C - TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 6 43483923 43483923 C - DEL YIPF3 ENST00000490447 human ensembl 69_37n -1 known frame_shift_del c.87 p.W29fs 0.002 NULL NULL - no_errors YIPF3 HGNC ENSG00000137207 20 0 0.00 3 2 40.00 - - - ZDHHC11B 0 genome.wustl.edu 37 5 766939 766939 + Silent SNP G G A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 5 766939 766939 G A SNP ZDHHC11B ENST00000382776 human ensembl 69_37n -1 known silent c.96 p.N32 0.990 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11B HGNC ENSG00000206077 45 0 0.00 54 6 10.00 - - - ZNF333 0 genome.wustl.edu 37 19 14817558 14817558 + Missense_Mutation SNP C C T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 19 14817558 14817558 C T SNP ZNF333 ENST00000292530 human ensembl 69_37n +1 known missense c.484 p.R162C 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF333 HGNC ENSG00000160961 54 0 0.00 36 9 20.00 - - - ZNF333 0 genome.wustl.edu 37 19 14817558 14817558 + Missense_Mutation SNP C C T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 19 14817558 14817558 C T SNP ZNF333 ENST00000292530 human ensembl 69_37n +1 known missense c.484 p.R162C 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF333 HGNC ENSG00000160961 86 0 0.00 36 9 20.00 - - - ZNF8 0 genome.wustl.edu 37 19 58797478 58797478 + Missense_Mutation SNP C C T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 19 58797478 58797478 C T SNP ZNF8 ENST00000196548 human ensembl 69_37n +1 known missense c.196 p.P66S 0.976 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF8 HGNC ENSG00000083842 88 0 0.00 74 15 16.85 - - - ZNF8 0 genome.wustl.edu 37 19 58797478 58797478 + Missense_Mutation SNP C C T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 19 58797478 58797478 C T SNP ZNF8 ENST00000196548 human ensembl 69_37n +1 known missense c.196 p.P66S 0.976 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF8 HGNC ENSG00000083842 163 0 0.00 74 15 16.85 - - - ZNF846 0 genome.wustl.edu 37 19 9869048 9869048 + Silent SNP G G A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 19 9869048 9869048 G A SNP ZNF846 ENST00000397902 human ensembl 69_37n -1 known silent c.705 p.F235 0.081 pfam_Znf_C2H2,smart_Znf_BED_prd,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF846 HGNC ENSG00000196605 70 0 0.00 65 20 23.53 - - - ZNF846 0 genome.wustl.edu 37 19 9869048 9869048 + Silent SNP G G A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 19 9869048 9869048 G A SNP ZNF846 ENST00000397902 human ensembl 69_37n -1 known silent c.705 p.F235 0.081 pfam_Znf_C2H2,smart_Znf_BED_prd,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF846 HGNC ENSG00000196605 122 0 0.00 65 20 23.53 - - - ZP4 0 genome.wustl.edu 37 1 238048465 238048465 + Silent SNP C C T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 548fcaa0-101b-4c84-b65e-1bec3a6a4354 1 238048465 238048465 C T SNP ZP4 ENST00000366570 human ensembl 69_37n -1 known silent c.1311 p.P437 0.901 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr pfam_Zona_pellucida_Endoglin/CD105,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors ZP4 HGNC ENSG00000116996 32 0 0.00 42 8 16.00 - - - ZP4 0 genome.wustl.edu 37 1 238048465 238048465 + Silent SNP C C T TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-11A-52D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c40d9be5-f017-4344-b3da-05330706ccfb 53bc33db-9b12-467b-aa69-b594ce0debee 1 238048465 238048465 C T SNP ZP4 ENST00000366570 human ensembl 69_37n -1 known silent c.1311 p.P437 0.901 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr pfam_Zona_pellucida_Endoglin/CD105,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors ZP4 HGNC ENSG00000116996 55 0 0.00 42 8 16.00 - - -