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 ABI1 0 genome.wustl.edu 37 10 27052815 27052815 + Missense_Mutation SNP C C A TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 10 27052815 27052815 C A SNP ABI1 ENST00000355394 human ensembl 69_37n -1 known missense c.898 p.V300L 1.000 NULL pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox - no_errors ABI1 HGNC ENSG00000136754 320 0 0.00 331 77 18.87 - - - ACOX1 0 genome.wustl.edu 37 17 73956312 73956312 + Missense_Mutation SNP C C G TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 17 73956312 73956312 C G SNP ACOX1 ENST00000293217 human ensembl 69_37n -1 known missense c.414 p.Q138H 1.000 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase - no_errors ACOX1 HGNC ENSG00000161533 119 0 0.00 100 26 20.47 - - - AKAP9 0 genome.wustl.edu 37 7 91632139 91632139 + Missense_Mutation SNP C C G TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 7 91632139 91632139 C G SNP AKAP9 ENST00000359028 human ensembl 69_37n +1 known missense c.2944 p.H982D 0.925 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like - no_errors AKAP9 HGNC ENSG00000127914 108 0 0.00 105 17 13.93 - - - ATP11A 0 genome.wustl.edu 37 13 113488902 113488902 + Splice_Site SNP G G C TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 13 113488902 113488902 G C SNP ATP11A ENST00000375630 human ensembl 69_37n +1 known splice_site c.1560-1 e15-1 1.000 - - - no_errors ATP11A HGNC ENSG00000068650 267 0 0.00 185 51 21.61 - - - ATRN 0 genome.wustl.edu 37 20 3527932 3527932 + Missense_Mutation SNP T T A TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 20 3527932 3527932 T A SNP ATRN ENST00000262919 human ensembl 69_37n +1 known missense c.739 p.F247I 1.000 superfamily_CUB,smart_CUB,pfscan_CUB,pfscan_EG-like_dom pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EGF-like,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRN HGNC ENSG00000088812 640 0 0.00 341 121 26.02 - - - BZRAP1 0 genome.wustl.edu 37 17 56384995 56384995 + Missense_Mutation SNP A A C TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 17 56384995 56384995 A C SNP BZRAP1 ENST00000355701 human ensembl 69_37n -1 known missense c.4960 p.F1654V 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 212 0 0.00 135 26 16.15 - - - CACNA1F 0 genome.wustl.edu 37 X 49065681 49065681 + Missense_Mutation SNP T T A TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 X 49065681 49065681 T A SNP CACNA1F ENST00000486943 human ensembl 69_37n -1 putative missense c.257 p.K86I 0.015 NULL NULL - no_start_codon CACNA1F HGNC ENSG00000102001 504 0 0.00 314 83 20.85 - - - CCDC3 0 genome.wustl.edu 37 10 13043199 13043199 + Silent SNP G G A TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 10 13043199 13043199 G A SNP CCDC3 ENST00000378825 human ensembl 69_37n -1 known silent c.372 p.L124 1.000 NULL NULL - no_errors CCDC3 HGNC ENSG00000151468 8 0 0.00 7 4 36.36 - - - CCDC69 0 genome.wustl.edu 37 5 150566946 150566946 + Splice_Site SNP C C A TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 5 150566946 150566946 C A SNP CCDC69 ENST00000355417 human ensembl 69_37n -1 known splice_site c.393+1 e5+1 1.000 - - - no_errors CCDC69 HGNC ENSG00000198624 254 1 0.39 138 41 22.78 - - - CDK5RAP1 0 genome.wustl.edu 37 20 31961928 31961928 + Missense_Mutation SNP G G A TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 20 31961928 31961928 G A SNP CDK5RAP1 ENST00000357886 human ensembl 69_37n -1 known missense c.1240 p.R414W 1.000 pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase pfam_rSAM,pfam_Methylthiotransferase_N,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase - no_errors CDK5RAP1 HGNC ENSG00000101391 205 0 0.00 147 24 14.04 - - - CEP68 0 genome.wustl.edu 37 2 65298808 65298808 + Missense_Mutation SNP C C T TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 2 65298808 65298808 C T SNP CEP68 ENST00000377990 human ensembl 69_37n +1 known missense c.578 p.P193L 0.000 NULL NULL - no_errors CEP68 HGNC ENSG00000011523 82 0 0.00 62 9 12.50 - - - CSMD2 0 genome.wustl.edu 37 1 34554791 34554791 + Missense_Mutation SNP T T C TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 1 34554791 34554791 T C SNP CSMD2 ENST00000373381 human ensembl 69_37n -1 known missense c.191 p.Q64R 1.000 NULL pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 225 1 0.44 155 21 11.80 - - - CTSS 0 genome.wustl.edu 37 1 150722597 150722597 + Missense_Mutation SNP C C A TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 1 150722597 150722597 C A SNP CTSS ENST00000368985 human ensembl 69_37n -1 known missense c.678 p.K226N 0.946 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSS HGNC ENSG00000163131 279 0 0.00 247 55 18.21 - - - CUL5 0 genome.wustl.edu 37 11 107965573 107965573 + Silent SNP C C T TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 11 107965573 107965573 C T SNP CUL5 ENST00000393094 human ensembl 69_37n +1 known silent c.1602 p.G534 1.000 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL5 HGNC ENSG00000166266 116 0 0.00 89 35 28.23 - - - F7 0 genome.wustl.edu 37 13 113771885 113771885 + Silent SNP C C T TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 13 113771885 113771885 C T SNP F7 ENST00000375581 human ensembl 69_37n +1 known silent c.780 p.N260 0.000 pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6 - no_errors F7 HGNC ENSG00000057593 258 0 0.00 194 24 10.96 - - - FAM108A1 0 genome.wustl.edu 37 19 1877565 1877565 + Missense_Mutation SNP C C A TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 19 1877565 1877565 C A SNP FAM108A1 ENST00000250974 human ensembl 69_37n -1 known missense c.802 p.G268C 1.000 pfam_Dienelactn_hydro pfam_Dienelactn_hydro - no_errors FAM108A1 HGNC ENSG00000129968 44 0 0.00 16 4 20.00 - - - FAM124A 0 genome.wustl.edu 37 13 51854669 51854669 + Silent SNP G G A TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 13 51854669 51854669 G A SNP FAM124A ENST00000280057 human ensembl 69_37n +1 known silent c.1026 p.P342 0.000 NULL NULL - no_errors FAM124A HGNC ENSG00000150510 171 0 0.00 123 31 19.75 - - - FAM171B 0 genome.wustl.edu 37 2 187626606 187626606 + Missense_Mutation SNP A A T TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 2 187626606 187626606 A T SNP FAM171B ENST00000304698 human ensembl 69_37n +1 known missense c.1537 p.R513W 0.944 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 293 0 0.00 227 92 28.75 - - - GANAB 0 genome.wustl.edu 37 11 62400200 62400200 + Missense_Mutation SNP C C G TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 11 62400200 62400200 C G SNP GANAB ENST00000346178 human ensembl 69_37n -1 known missense c.899 p.R300P 1.000 superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd - no_errors GANAB HGNC ENSG00000089597 141 0 0.00 82 27 24.77 - - - GYG2 0 genome.wustl.edu 37 X 2774660 2774660 + Missense_Mutation SNP C C G TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 X 2774660 2774660 C G SNP GYG2 ENST00000381163 human ensembl 69_37n +1 known missense c.702 p.F234L 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GYG2 HGNC ENSG00000056998 158 0 0.00 81 16 16.49 - - - HPSE 0 genome.wustl.edu 37 4 84234382 84234382 + Missense_Mutation SNP A A T TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 4 84234382 84234382 A T SNP HPSE ENST00000311412 human ensembl 69_37n -1 known missense c.558 p.F186L 1.000 pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE HGNC ENSG00000173083 234 0 0.00 212 53 20.00 - - - HTR5A 0 genome.wustl.edu 37 7 154862779 154862779 + Missense_Mutation SNP G G T TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 7 154862779 154862779 G T SNP HTR5A ENST00000287907 human ensembl 69_37n +1 known missense c.170 p.W57L 1.000 pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt - no_errors HTR5A HGNC ENSG00000157219 124 0 0.00 58 9 13.43 - - - IL27 0 genome.wustl.edu 37 16 28511052 28511052 + Missense_Mutation SNP C C G TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 16 28511052 28511052 C G SNP IL27 ENST00000356897 human ensembl 69_37n -1 known missense c.652 p.V218L 0.722 superfamily_4_helix_cytokine-like_core superfamily_4_helix_cytokine-like_core - no_errors IL27 HGNC ENSG00000197272 115 0 0.00 48 10 17.24 - - - KDM3B 0 genome.wustl.edu 37 5 137771360 137771360 + Missense_Mutation SNP G G A TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 5 137771360 137771360 G A SNP KDM3B ENST00000314358 human ensembl 69_37n +1 known missense c.5257 p.A1753T 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 255 0 0.00 163 48 22.75 - - - LPPR3 0 genome.wustl.edu 37 19 815750 815750 + Silent SNP G G A TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 19 815750 815750 G A SNP LPPR3 ENST00000359894 human ensembl 69_37n -1 known silent c.177 p.L59 0.997 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors hsa-mir-3187 miRBase ENSG00000129951 88 0 0.00 56 12 17.39 - - - MGAM 0 genome.wustl.edu 37 7 141705436 141705436 + Missense_Mutation SNP A A G TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 7 141705436 141705436 A G SNP MGAM ENST00000549489 human ensembl 69_37n +1 known missense c.106 p.K36E 0.014 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 538 1 0.19 469 91 16.22 - - - MID2 0 genome.wustl.edu 37 X 107170052 107170052 + Missense_Mutation SNP C C G TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 X 107170052 107170052 C G SNP MID2 ENST00000262843 human ensembl 69_37n +1 known missense c.1957 p.R653G 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID2 HGNC ENSG00000080561 407 0 0.00 273 67 19.71 - - - MLLT3 0 genome.wustl.edu 37 9 20620668 20620668 + Missense_Mutation SNP G G A TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 9 20620668 20620668 G A SNP MLLT3 ENST00000380338 human ensembl 69_37n -1 known missense c.178 p.P60S 1.000 pfam_YEATS,pfscan_YEATS pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 148 0 0.00 118 19 13.77 - - - MRGPRX3 0 genome.wustl.edu 37 11 18159472 18159472 + Missense_Mutation SNP G G T TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 11 18159472 18159472 G T SNP MRGPRX3 ENST00000396275 human ensembl 69_37n +1 known missense c.723 p.R241S 0.211 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors MRGPRX3 HGNC ENSG00000179826 388 0 0.00 316 73 18.77 - - - MYO18B 0 genome.wustl.edu 37 22 26423470 26423470 + Missense_Mutation SNP A A T TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 22 26423470 26423470 A T SNP MYO18B ENST00000543971 human ensembl 69_37n +1 novel missense c.1379 p.H460L 0.558 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MYO18B HGNC ENSG00000133454 141 0 0.00 87 39 30.95 - - - MYO9A 0 genome.wustl.edu 37 15 72338876 72338876 + Missense_Mutation SNP C C T TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 15 72338876 72338876 C T SNP MYO9A ENST00000424560 human ensembl 69_37n -1 known missense c.29 p.R10H 1.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 267 0 0.00 183 53 22.46 - - - NUMBL 0 genome.wustl.edu 37 19 41173774 41173774 + Missense_Mutation SNP C C A TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 19 41173774 41173774 C A SNP NUMBL ENST00000252891 human ensembl 69_37n -1 known missense c.1429 p.V477L 1.000 pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom - no_errors NUMBL HGNC ENSG00000105245 15 0 0.00 11 4 26.67 - - - PCMTD2 0 genome.wustl.edu 37 20 62899355 62899355 + Missense_Mutation SNP T T C TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 20 62899355 62899355 T C SNP PCMTD2 ENST00000308824 human ensembl 69_37n +1 known missense c.698 p.V233A 1.000 NULL pfam_PCMT - no_errors PCMTD2 HGNC ENSG00000203880 300 0 0.00 210 64 23.36 - - - PIP5K1A 0 genome.wustl.edu 37 1 151209081 151209081 + Silent SNP C C T TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 1 151209081 151209081 C T SNP PIP5K1A ENST00000368888 human ensembl 69_37n +1 known silent c.987 p.I329 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1A HGNC ENSG00000143398 125 0 0.00 104 22 17.46 - - - PLEKHN1 0 genome.wustl.edu 37 1 906108 906108 + Missense_Mutation SNP G G T TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 1 906108 906108 G T SNP PLEKHN1 ENST00000379409 human ensembl 69_37n +1 known missense c.454 p.G152W 0.379 smart_Pleckstrin_homology smart_Pleckstrin_homology - no_errors PLEKHN1 HGNC ENSG00000187583 36 0 0.00 37 16 30.19 - - - PROX2 0 genome.wustl.edu 37 14 75329577 75329577 + Missense_Mutation SNP T T A TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 14 75329577 75329577 T A SNP PROX2 ENST00000445876 human ensembl 69_37n -1 known missense c.961 p.T321S 0.002 NULL pfam_Prox1,superfamily_Homeodomain-like - no_errors PROX2 HGNC ENSG00000119608 244 1 0.40 214 29 11.51 - - - PTCH1 0 genome.wustl.edu 37 9 98221930 98221930 + Missense_Mutation SNP C C G TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 9 98221930 98221930 C G SNP PTCH1 ENST00000331920 human ensembl 69_37n -1 known missense c.2839 p.E947Q 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 398 0 0.00 241 131 35.22 - - - PTCHD3 0 genome.wustl.edu 37 10 27700858 27700858 + Missense_Mutation SNP C C A TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 10 27700858 27700858 C A SNP PTCHD3 ENST00000438700 human ensembl 69_37n -1 known missense c.1090 p.V364L 0.998 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 151 0 0.00 146 27 15.61 - - - RANBP3 0 genome.wustl.edu 37 19 5917932 5917932 + Silent SNP C C T TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 19 5917932 5917932 C T SNP RANBP3 ENST00000340578 human ensembl 69_37n -1 known silent c.1533 p.L511 1.000 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC ENSG00000031823 44 0 0.00 29 8 21.62 - - - RIMKLA 0 genome.wustl.edu 37 1 42875811 42875811 + Missense_Mutation SNP T T C TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 1 42875811 42875811 T C SNP RIMKLA ENST00000431473 human ensembl 69_37n +1 known missense c.638 p.M213T 1.000 pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLA HGNC ENSG00000177181 326 0 0.00 335 42 11.14 - - - RNF10 0 genome.wustl.edu 37 12 120995476 120995476 + Missense_Mutation SNP C C T TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 12 120995476 120995476 C T SNP RNF10 ENST00000413266 human ensembl 69_37n +1 known missense c.958 p.H320Y 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF10 HGNC ENSG00000022840 583 2 0.34 359 135 27.27 - - - RSPH3 0 genome.wustl.edu 37 6 159401878 159401878 + Missense_Mutation SNP G G C TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 6 159401878 159401878 G C SNP RSPH3 ENST00000252655 human ensembl 69_37n -1 known missense c.1213 p.L405V 1.000 pfam_Radial_spoke_3 pfam_Radial_spoke_3 - no_errors RSPH3 HGNC ENSG00000130363 504 0 0.00 366 59 13.85 - - - RTL1 0 genome.wustl.edu 37 14 101350779 101350779 + Missense_Mutation SNP C C T TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 14 101350779 101350779 C T SNP RTL1 ENST00000534062 human ensembl 69_37n -1 known missense c.347 p.G116E 0.000 NULL pfam_Retrotrans_gag,superfamily_Peptidase_aspartic - no_errors RTL1 HGNC ENSG00000254656 242 0 0.00 138 17 10.97 - - - RXRA 0 genome.wustl.edu 37 9 137309062 137309062 + Silent SNP C C T TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 9 137309062 137309062 C T SNP RXRA ENST00000481739 human ensembl 69_37n +1 known silent c.669 p.T223 0.959 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_DUF3345,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoic_acid_rcpt - no_errors RXRA HGNC ENSG00000186350 70 0 0.00 30 13 30.23 - - - SAMD9 0 genome.wustl.edu 37 7 92733023 92733023 + Silent SNP G G T TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 7 92733023 92733023 G T SNP SAMD9 ENST00000379958 human ensembl 69_37n -1 known silent c.2388 p.L796 0.993 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 201 0 0.00 194 34 14.85 - - - SH3GL2 0 genome.wustl.edu 37 9 17795652 17795652 + Missense_Mutation SNP G G A TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 9 17795652 17795652 G A SNP SH3GL2 ENST00000380607 human ensembl 69_37n +1 known missense c.970 p.D324N 1.000 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,pfam_BAR_dom-cont,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3GL2 HGNC ENSG00000107295 407 0 0.00 370 56 13.15 - - - SLC5A9 0 genome.wustl.edu 37 1 48699331 48699331 + Missense_Mutation SNP G G A TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 1 48699331 48699331 G A SNP SLC5A9 ENST00000425816 human ensembl 69_37n +1 known missense c.832 p.G278S 0.992 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A9 HGNC ENSG00000117834 267 0 0.00 224 53 19.13 - - - SPRR3 0 genome.wustl.edu 37 1 152975898 152975898 + Silent SNP T T G TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 1 152975898 152975898 T G SNP SPRR3 ENST00000295367 human ensembl 69_37n +1 known silent c.402 p.P134 0.897 pfam_Cornifin pfam_Cornifin - no_errors SPRR3 HGNC ENSG00000163209 282 0 0.00 213 24 10.13 - - - SSR1 0 genome.wustl.edu 37 6 7301667 7301667 + Missense_Mutation SNP A A G TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 6 7301667 7301667 A G SNP SSR1 ENST00000244763 human ensembl 69_37n -1 known missense c.419 p.L140P 1.000 pfam_TRAP_alpha pfam_TRAP_alpha - no_errors SSR1 HGNC ENSG00000124783 274 0 0.00 244 40 14.08 - - - SYCP2L 0 genome.wustl.edu 37 6 10935310 10935310 + Nonsense_Mutation SNP C C A TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 6 10935310 10935310 C A SNP SYCP2L ENST00000283141 human ensembl 69_37n +1 known nonsense c.1703 p.S568* 0.000 NULL NULL - no_errors SYCP2L HGNC ENSG00000153157 319 0 0.00 250 88 26.04 - - - THNSL1 0 genome.wustl.edu 37 10 25313398 25313398 + Nonsense_Mutation SNP C C T TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 10 25313398 25313398 C T SNP THNSL1 ENST00000376356 human ensembl 69_37n +1 known nonsense c.1246 p.Q416* 1.000 pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu,tigrfam_Thr_synthase pfam_Shikimate_kinase,pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu,prints_Shikimate_kinase,tigrfam_Thr_synthase - no_errors THNSL1 HGNC ENSG00000185875 536 0 0.00 425 95 18.27 - - - TP53 0 genome.wustl.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 17 7578263 7578263 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.586 p.R196* 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 373 0 0.00 198 67 25.28 - - - TRABD2A 0 genome.wustl.edu 37 2 85097456 85097456 + Missense_Mutation SNP A A C TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 2 85097456 85097456 A C SNP TRABD2A ENST00000409520 human ensembl 69_37n -1 known missense c.562 p.L188V 1.000 NULL NULL - no_errors TRABD2A HGNC ENSG00000186854 181 0 0.00 152 20 11.63 - - - TTC29 0 genome.wustl.edu 37 4 147724636 147724636 + Missense_Mutation SNP C C G TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 4 147724636 147724636 C G SNP TTC29 ENST00000398886 human ensembl 69_37n -1 known missense c.1381 p.G461R 0.983 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC29 HGNC ENSG00000137473 385 0 0.00 312 44 12.36 - - - UGT2A1 0 genome.wustl.edu 37 4 70455314 70455314 + Missense_Mutation SNP G G T TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 4 70455314 70455314 G T SNP UGT2A1 ENST00000457664 human ensembl 69_37n -1 known missense c.1387 p.P463T 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A1 HGNC ENSG00000173610 364 1 0.27 309 65 17.38 - - - XPO1 0 genome.wustl.edu 37 2 61710129 61710129 + Silent SNP A A G TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 2 61710129 61710129 A G SNP XPO1 ENST00000401558 human ensembl 69_37n -1 known silent c.2775 p.H925 1.000 pfam_CRM1_C_dom,superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ENSG00000082898 254 0 0.00 221 50 18.45 - - - ZNF625 0 genome.wustl.edu 37 19 12256170 12256170 + Missense_Mutation SNP G G C TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00c8d151-2223-4e36-8c66-6c09e42d8777 d2ad26e4-a4a8-45de-9f85-c681a2a49f43 19 12256170 12256170 G C SNP ZNF625 ENST00000439556 human ensembl 69_37n -1 known missense c.1061 p.T354S 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF625 Clone_based_vega_gene ENSG00000257591 331 0 0.00 277 65 19.01 - - -