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 AMPD3 0 genome.wustl.edu 37 11 10500146 10500146 + Missense_Mutation SNP C C T TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 11 10500146 10500146 C T SNP AMPD3 ENST00000396553 human ensembl 69_37n +1 known missense c.295 p.P99S 0.005 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 36 0 0.00 74 44 37.29 - - - AQP8 0 genome.wustl.edu 37 16 25228619 25228619 + Missense_Mutation SNP G G T TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 16 25228619 25228619 G T SNP AQP8 ENST00000219660 human ensembl 69_37n +1 known missense c.113 p.C38F 0.997 pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP - no_errors AQP8 HGNC ENSG00000103375 76 0 0.00 161 110 40.59 - - - ARHGEF9 0 genome.wustl.edu 37 X 62917053 62917053 + Silent SNP G G A TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 X 62917053 62917053 G A SNP ARHGEF9 ENST00000253401 human ensembl 69_37n -1 known silent c.513 p.N171 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF9 HGNC ENSG00000131089 87 0 0.00 293 60 17.00 - - - B3GALT5 0 genome.wustl.edu 37 21 41032794 41032794 + Missense_Mutation SNP C C T TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 21 41032794 41032794 C T SNP B3GALT5 ENST00000343118 human ensembl 69_37n +1 known missense c.308 p.A103V 0.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT5 HGNC ENSG00000183778 31 0 0.00 41 19 31.67 - - - BAI2 0 genome.wustl.edu 37 1 32202284 32202286 + In_Frame_Del DEL AAG AAG - TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 1 32202284 32202286 AAG - DEL BAI2 ENST00000373658 human ensembl 69_37n -1 known in_frame_del c.3020_3018 p.F1007in_frame_del 1.000:1.000:1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 27 0 0.00 56 17 23.29 - - - BCAT1 0 genome.wustl.edu 37 12 24989509 24989509 + Missense_Mutation SNP G G A TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 12 24989509 24989509 G A SNP BCAT1 ENST00000261192 human ensembl 69_37n -1 known missense c.839 p.P280L 1.000 pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT1 HGNC ENSG00000060982 44 0 0.00 104 63 37.72 - - - BCORL1 0 genome.wustl.edu 37 X 129155089 129155089 + Missense_Mutation SNP C C A TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 X 129155089 129155089 C A SNP BCORL1 ENST00000303743 human ensembl 69_37n +1 known missense c.3571 p.Q1191K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 31 0 0.00 41 23 35.94 - - - BRPF1 0 genome.wustl.edu 37 3 9783057 9783057 + Missense_Mutation SNP T T G TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 3 9783057 9783057 T G SNP BRPF1 ENST00000383829 human ensembl 69_37n +1 known missense c.1788 p.H596Q 0.640 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,prints_Bromodomain,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 40 0 0.00 56 9 13.85 - - - C11orf24 0 genome.wustl.edu 37 11 68030078 68030078 + Missense_Mutation SNP C C T TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 11 68030078 68030078 C T SNP C11orf24 ENST00000304271 human ensembl 69_37n -1 known missense c.385 p.A129T 0.006 NULL NULL - no_errors C11orf24 HGNC ENSG00000171067 26 0 0.00 53 15 21.74 - - - C17orf75 0 genome.wustl.edu 37 17 30665245 30665245 + Missense_Mutation SNP G G A TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 17 30665245 30665245 G A SNP C17orf75 ENST00000225805 human ensembl 69_37n -1 known missense c.473 p.S158F 1.000 NULL NULL - no_errors C17orf75 HGNC ENSG00000108666 44 0 0.00 189 44 18.88 - - - CNTNAP3B 0 genome.wustl.edu 37 9 43853546 43853546 + Missense_Mutation SNP C C T TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 9 43853546 43853546 C T SNP CNTNAP3B ENST00000377561 human ensembl 69_37n +1 known missense c.1952 p.P651L 0.790 superfamily_Fibrinogen_a/b/g_C pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CNTNAP3B HGNC ENSG00000154529 10 0 0.00 10 4 28.57 - - - CUBN 0 genome.wustl.edu 37 10 16916414 16916414 + Silent SNP C C G TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 10 16916414 16916414 C G SNP CUBN ENST00000377833 human ensembl 69_37n -1 known silent c.9195 p.L3065 0.045 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 69 0 0.00 107 115 51.80 - - - CYP4V2 0 genome.wustl.edu 37 4 187130348 187130348 + Missense_Mutation SNP C C T TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 4 187130348 187130348 C T SNP CYP4V2 ENST00000378802 human ensembl 69_37n +1 known missense c.1327 p.R443W 0.696 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4V2 HGNC ENSG00000145476 18 0 0.00 63 53 45.69 - - - DENND2D 0 genome.wustl.edu 37 1 111739850 111739850 + Missense_Mutation SNP G G A TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 1 111739850 111739850 G A SNP DENND2D ENST00000357640 human ensembl 69_37n -1 known missense c.452 p.P151L 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2D HGNC ENSG00000162777 32 0 0.00 21 29 58.00 - - - DSCR6 0 genome.wustl.edu 37 21 38390212 38390212 + Missense_Mutation SNP G G A TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 21 38390212 38390212 G A SNP DSCR6 ENST00000329553 human ensembl 69_37n +1 known missense c.278 p.R93Q 0.995 NULL NULL - no_errors DSCR6 HGNC ENSG00000183145 14 0 0.00 40 8 16.67 - - - GALNTL4 0 genome.wustl.edu 37 11 11394113 11394113 + Silent SNP C C T TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 11 11394113 11394113 C T SNP GALNTL4 ENST00000227756 human ensembl 69_37n -1 known silent c.1041 p.L347 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL4 HGNC ENSG00000110328 29 0 0.00 74 31 29.52 - - - HSPH1 0 genome.wustl.edu 37 13 31714438 31714438 + Missense_Mutation SNP C C A TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 13 31714438 31714438 C A SNP HSPH1 ENST00000445273 human ensembl 69_37n -1 known missense c.1869 p.M623I 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPH1 HGNC ENSG00000120694 102 0 0.00 228 115 33.43 - - - KIAA1715 0 genome.wustl.edu 37 2 176812363 176812363 + Missense_Mutation SNP T T A TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 2 176812363 176812363 T A SNP KIAA1715 ENST00000544803 human ensembl 69_37n -1 known missense c.551 p.N184I 0.940 NULL pfam_DUF2296 - no_errors KIAA1715 HGNC ENSG00000144320 58 0 0.00 116 33 21.85 - - - KRTAP4-7 0 genome.wustl.edu 37 17 39240627 39240627 + Missense_Mutation SNP T T C TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 17 39240627 39240627 T C SNP KRTAP4-7 ENST00000391417 human ensembl 69_37n +1 known missense c.169 p.S57P 0.032 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-7 HGNC ENSG00000240871 33 0 0.00 196 22 10.09 - - - KRTAP4-9 0 genome.wustl.edu 37 17 39261786 39261786 + Missense_Mutation SNP G G A TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 17 39261786 39261786 G A SNP KRTAP4-9 ENST00000391415 human ensembl 69_37n +1 known missense c.146 p.C49Y 1.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-9 HGNC ENSG00000212722 30 0 0.00 152 18 10.53 - - - L1CAM 0 genome.wustl.edu 37 X 153130895 153130895 + Missense_Mutation SNP G G A TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 X 153130895 153130895 G A SNP L1CAM ENST00000543994 human ensembl 69_37n -1 known missense c.2614 p.H872Y 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors L1CAM HGNC ENSG00000198910 26 0 0.00 139 32 18.60 - - - LRP1 0 genome.wustl.edu 37 12 57604136 57604136 + Missense_Mutation SNP C C A TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 12 57604136 57604136 C A SNP LRP1 ENST00000243077 human ensembl 69_37n +1 known missense c.12627 p.S4209R 1.000 superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 15 0 0.00 37 8 17.78 - - - LRRC37A4P 0 genome.wustl.edu 37 17 43592301 43592301 + RNA SNP G G A TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 17 43592301 43592301 G A SNP LRRC37A4P ENST00000579913 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors LRRC37A4P HGNC ENSG00000214425 14 0 0.00 25 10 28.57 - - - MEF2A 0 genome.wustl.edu 37 15 100252738 100252738 + Missense_Mutation SNP A A C TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 15 100252738 100252738 A C SNP MEF2A ENST00000338042 human ensembl 69_37n +1 known missense c.1283 p.Q428P 0.928 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2A HGNC ENSG00000068305 14 0 0.00 14 5 26.32 - - - MKRN3 0 genome.wustl.edu 37 15 23811029 23811029 + Missense_Mutation SNP G G A TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 15 23811029 23811029 G A SNP MKRN3 ENST00000314520 human ensembl 69_37n +1 known missense c.100 p.V34I 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 11 0 0.00 21 10 32.26 - - - MLC1 0 genome.wustl.edu 37 22 50512644 50512644 + Splice_Site SNP C C T TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 22 50512644 50512644 C T SNP MLC1 ENST00000311597 human ensembl 69_37n -1 known splice_site c.714+1 e7+1 1.000 - - - no_errors MLC1 HGNC ENSG00000100427 26 0 0.00 15 23 60.53 - - - MMAA 0 genome.wustl.edu 37 4 146576496 146576496 + Missense_Mutation SNP T T G TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 4 146576496 146576496 T G SNP MMAA ENST00000281317 human ensembl 69_37n +1 known missense c.1167 p.I389M 0.998 tigrfam_ArgK pfam_ArgK,pfam_Cbl_biosynth_CobW-like,tigrfam_ArgK - no_errors MMAA HGNC ENSG00000151611 16 0 0.00 46 24 34.29 - - - MTERFD2 0 genome.wustl.edu 37 2 242038987 242038987 + Missense_Mutation SNP A A C TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 2 242038987 242038987 A C SNP MTERFD2 ENST00000241527 human ensembl 69_37n -1 known missense c.344 p.V115G 0.001 pfam_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD2 HGNC ENSG00000122085 33 0 0.00 113 31 21.53 - - - MUC17 0 genome.wustl.edu 37 7 100679631 100679631 + Missense_Mutation SNP G G A TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 7 100679631 100679631 G A SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known missense c.4934 p.S1645N 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 99 0 0.00 366 69 15.86 - - - NOL12 0 genome.wustl.edu 37 22 38083918 38083918 + Missense_Mutation SNP G G A TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 22 38083918 38083918 G A SNP NOL12 ENST00000359114 human ensembl 69_37n +1 known missense c.85 p.E29K 1.000 pfam_Nucleolar_protein_12 pfam_Nucleolar_protein_12 - no_errors NOL12 HGNC ENSG00000256872 19 0 0.00 12 17 58.62 - - - NOTO 0 genome.wustl.edu 37 2 73438003 73438003 + Missense_Mutation SNP C C A TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 2 73438003 73438003 C A SNP NOTO ENST00000398468 human ensembl 69_37n +1 known missense c.702 p.S234R 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors NOTO HGNC ENSG00000214513 21 0 0.00 58 13 18.31 - - - NT5E 0 genome.wustl.edu 37 6 86181085 86181085 + Missense_Mutation SNP G G T TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 6 86181085 86181085 G T SNP NT5E ENST00000257770 human ensembl 69_37n +1 known missense c.693 p.Q231H 1.000 pfam_Metallo_PEstase_dom,prints_5_nucleotidase/apyrase pfam_5'-Nucleotdase_C,pfam_Metallo_PEstase_dom,superfamily_5'-Nucleotdase_C,prints_5_nucleotidase/apyrase - no_errors NT5E HGNC ENSG00000135318 33 0 0.00 58 17 22.67 - - - NUAK2 0 genome.wustl.edu 37 1 205275345 205275345 + Missense_Mutation SNP C C A TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 1 205275345 205275345 C A SNP NUAK2 ENST00000367157 human ensembl 69_37n -1 known missense c.661 p.V221F 0.995 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NUAK2 HGNC ENSG00000163545 48 0 0.00 133 15 10.14 - - - OLFM2 0 genome.wustl.edu 37 19 9967532 9967532 + Missense_Mutation SNP C C T TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 19 9967532 9967532 C T SNP OLFM2 ENST00000264833 human ensembl 69_37n -1 known missense c.638 p.R213H 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM2 HGNC ENSG00000105088 11 0 0.00 14 5 26.32 - - - PCDHB8 0 genome.wustl.edu 37 5 140559523 140559523 + Silent SNP G G A TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 5 140559523 140559523 G A SNP PCDHB8 ENST00000239444 human ensembl 69_37n +1 known silent c.1908 p.A636 0.008 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 13 0 0.00 26 10 27.78 - - - PPEF1 0 genome.wustl.edu 37 X 18824526 18824526 + Silent SNP G G A TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 X 18824526 18824526 G A SNP PPEF1 ENST00000361511 human ensembl 69_37n +1 known silent c.1257 p.V419 1.000 smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr-Pase_EF-hand_contain,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,pfam_EF-hand,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPEF1 HGNC ENSG00000086717 45 0 0.00 88 36 29.03 - - - PPP1R3A 0 genome.wustl.edu 37 7 113558745 113558745 + Nonsense_Mutation SNP C C A TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 7 113558745 113558745 C A SNP PPP1R3A ENST00000284601 human ensembl 69_37n -1 known nonsense c.307 p.E103* 1.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 41 0 0.00 79 28 26.17 - - - PRKDC 0 genome.wustl.edu 37 8 48697854 48697855 + Frame_Shift_Ins INS - - T TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 8 48697854 48697855 - T INS PRKDC ENST00000314191 human ensembl 69_37n -1 known frame_shift_ins c.10924_10923 p.H3641fs 0.979:0.107 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 58 0 0.00 117 44 27.33 - - - PRSS53 0 genome.wustl.edu 37 16 31097783 31097783 + Missense_Mutation SNP G G A TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 16 31097783 31097783 G A SNP PRSS53 ENST00000280606 human ensembl 69_37n -1 known missense c.538 p.R180C 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS53 HGNC ENSG00000151006 41 0 0.00 48 32 40.00 - - - RIT1 0 genome.wustl.edu 37 1 155874570 155874570 + Silent SNP A A T TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 1 155874570 155874570 A T SNP RIT1 ENST00000368323 human ensembl 69_37n -1 known silent c.189 p.R63 0.964 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RIT1 HGNC ENSG00000143622 71 0 0.00 85 92 51.69 - - - SASS6 0 genome.wustl.edu 37 1 100573002 100573002 + Missense_Mutation SNP C C A TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 1 100573002 100573002 C A SNP SASS6 ENST00000287482 human ensembl 69_37n -1 known missense c.1254 p.K418N 1.000 NULL NULL - no_errors SASS6 HGNC ENSG00000156876 65 0 0.00 63 31 32.98 - - - SCYL2 0 genome.wustl.edu 37 12 100732846 100732846 + Missense_Mutation SNP A A T TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 12 100732846 100732846 A T SNP SCYL2 ENST00000360820 human ensembl 69_37n +1 known missense c.2686 p.M896L 0.993 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors SCYL2 HGNC ENSG00000136021 50 0 0.00 134 31 18.79 - - - SHROOM4 0 genome.wustl.edu 37 X 50377358 50377358 + Missense_Mutation SNP C C T TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 X 50377358 50377358 C T SNP SHROOM4 ENST00000289292 human ensembl 69_37n -1 known missense c.1715 p.G572E 0.024 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 32 0 0.00 68 13 16.05 - - - STAT4 0 genome.wustl.edu 37 2 191895699 191895700 + Frame_Shift_Del DEL GC GC - TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 GC GC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 2 191895699 191895700 GC - DEL STAT4 ENST00000358470 human ensembl 69_37n -1 known frame_shift_del c.2219_2218 p.A740fs 1.000:1.000 NULL pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC ENSG00000138378 51 0 0.00 140 35 19.77 - - - SYT11 0 genome.wustl.edu 37 1 155851077 155851077 + Silent SNP C C A TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 1 155851077 155851077 C A SNP SYT11 ENST00000368324 human ensembl 69_37n +1 known silent c.1074 p.I358 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT11 HGNC ENSG00000132718 53 0 0.00 201 44 17.96 - - - TAS2R42 0 genome.wustl.edu 37 12 11338943 11338943 + Missense_Mutation SNP G G T TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 12 11338943 11338943 G T SNP TAS2R42 ENST00000334266 human ensembl 69_37n -1 known missense c.601 p.L201I 0.000 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors TAS2R42 HGNC ENSG00000186136 13 0 0.00 12 7 36.84 - - - TBC1D1 0 genome.wustl.edu 37 4 38029467 38029467 + Missense_Mutation SNP T T C TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 4 38029467 38029467 T C SNP TBC1D1 ENST00000510573 human ensembl 69_37n +1 novel missense c.211 p.S71P 0.992 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TBC1D1 HGNC ENSG00000065882 45 0 0.00 85 22 20.37 - - - TBC1D4 0 genome.wustl.edu 37 13 75880582 75880582 + Missense_Mutation SNP T T G TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 13 75880582 75880582 T G SNP TBC1D4 ENST00000377636 human ensembl 69_37n -1 known missense c.2619 p.R873S 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 57 0 0.00 42 109 72.19 - - - TMCO6 0 genome.wustl.edu 37 5 140022616 140022616 + Missense_Mutation SNP A A C TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 5 140022616 140022616 A C SNP TMCO6 ENST00000252100 human ensembl 69_37n +1 known missense c.814 p.I272L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB - no_errors TMCO6 HGNC ENSG00000113119 59 0 0.00 131 85 39.17 - - - TMEM120A 0 genome.wustl.edu 37 7 75617758 75617758 + RNA SNP G G A TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 7 75617758 75617758 G A SNP TMEM120A ENST00000338761 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors TMEM120A HGNC ENSG00000189077 25 0 0.00 81 33 28.95 - - - TP53 0 genome.wustl.edu 37 17 7577144 7577144 + Missense_Mutation SNP A A G TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 17 7577144 7577144 A G SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.794 p.L265P 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 32 0 0.00 35 52 59.77 - - - UBAC2 0 genome.wustl.edu 37 13 99890758 99890758 + Missense_Mutation SNP T T C TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 13 99890758 99890758 T C SNP UBAC2 ENST00000403766 human ensembl 69_37n +1 novel missense c.109 p.C37R 1.000 NULL pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAC2 HGNC ENSG00000134882 44 0 0.00 82 44 34.92 - - - VCPIP1 0 genome.wustl.edu 37 8 67578547 67578547 + Missense_Mutation SNP T T G TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 8 67578547 67578547 T G SNP VCPIP1 ENST00000310421 human ensembl 69_37n -1 known missense c.647 p.D216A 1.000 pfam_OTU,pfscan_OTU pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 20 0 0.00 75 13 14.61 - - - ZBTB11 0 genome.wustl.edu 37 3 101375072 101375072 + Missense_Mutation SNP G G C TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 3 101375072 101375072 G C SNP ZBTB11 ENST00000312938 human ensembl 69_37n -1 known missense c.2067 p.I689M 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB11 HGNC ENSG00000066422 34 0 0.00 78 49 38.58 - - - ZNF366 0 genome.wustl.edu 37 5 71739680 71739680 + Missense_Mutation SNP G G T TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 5 71739680 71739680 G T SNP ZNF366 ENST00000318442 human ensembl 69_37n -1 known missense c.2138 p.S713Y 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 37 0 0.00 78 20 20.41 - - - ZNF562 0 genome.wustl.edu 37 19 9770066 9770066 + Missense_Mutation SNP T T C TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 19 9770066 9770066 T C SNP ZNF562 ENST00000448622 human ensembl 69_37n -1 known missense c.103 p.N35D 0.000 superfamily_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 ZNF562 HGNC ENSG00000171466 55 0 0.00 45 73 61.86 - - - ZNF607 0 genome.wustl.edu 37 19 38189031 38189031 + Silent SNP A A G TCGA-B6-A1KN-01A-11D-A13L-09 TCGA-B6-A1KN-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1ad09c8-4237-48f0-b04c-7ee8ccaf8cf1 2a8d9494-2d88-4577-bb21-05a62a07d8f9 19 38189031 38189031 A G SNP ZNF607 ENST00000355202 human ensembl 69_37n -1 known silent c.2001 p.H667 1.000 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,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF607 HGNC ENSG00000198182 44 0 0.00 106 37 25.87 - - -