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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ACOT11 0 genome.wustl.edu 37 1 55065065 55065065 + Silent SNP C C A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 1 55065065 55065065 C A SNP ACOT11 ENST00000371316 human ensembl 74_37 +1 known silent c.861 p.I287 0.201 pfam_Thioestr_supf pfam_START_lipid-bd_dom,pfam_Thioestr_supf,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT11 HGNC ENSG00000162390 tier1 - - 154 0 0.00 68 4 5.56 ACRC 0 genome.wustl.edu 37 X 70832394 70832394 + Missense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 X 70832394 70832394 C T SNP ACRC ENST00000373695 human ensembl 74_37 +1 known missense c.1940 p.T647I 0.018 pfam_SprT-like_domain,smart_SprT-like_domain pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ENSG00000147174 tier1 - - 122 0 0.00 61 4 6.15 ACSF3 0 genome.wustl.edu 37 16 89199546 89199546 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 16 89199546 89199546 G T SNP ACSF3 ENST00000542688 human ensembl 74_37 +1 known missense c.1093 p.D365Y 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSF3 HGNC ENSG00000176715 82 0 0.00 54 4 6.90 ACSL3 0 genome.wustl.edu 37 2 223806251 223806251 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 2 223806251 223806251 G T SNP ACSL3 ENST00000357430 human ensembl 74_37 +1 known missense c.2042 p.R681L 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL3 HGNC ENSG00000123983 52 0 0.00 32 2 5.88 ADAM29 0 genome.wustl.edu 37 4 175899049 175899049 + Silent SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 4 175899049 175899049 G A SNP ADAM29 ENST00000359240 human ensembl 74_37 +1 known silent c.2373 p.T791 0.005 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ENSG00000168594 tier1 - - 114 0 0.00 68 48 41.38 ADAT1 0 genome.wustl.edu 37 16 75654167 75654167 + Missense_Mutation SNP T T C TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 16 75654167 75654167 T C SNP ADAT1 ENST00000307921 human ensembl 74_37 -1 known missense c.235 p.N79D 0.938 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,smart_A_deamin,pfscan_A_deamin - no_errors ADAT1 HGNC ENSG00000065457 76 0 0.00 73 4 5.19 AGXT2 0 genome.wustl.edu 37 5 35013131 35013131 + Silent SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 5 35013131 35013131 C T SNP AGXT2 ENST00000231420 human ensembl 74_37 -1 known silent c.1116 p.A372 0.272 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT2 HGNC ENSG00000113492 tier1 - - 79 0 0.00 41 26 38.81 ALDOC 0 genome.wustl.edu 37 17 26902474 26902474 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 17 26902474 26902474 G A SNP ALDOC ENST00000226253 human ensembl 74_37 -1 known missense c.77 p.P26L 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOC HGNC ENSG00000109107 tier1 - - 64 0 0.00 38 13 25.49 ANKRD20A5P 0 genome.wustl.edu 37 18 14219963 14219963 + RNA DEL A A - TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 18 14219963 14219963 A - DEL ANKRD20A5P ENST00000580995 human ensembl 74_37 +1 known rna NULL NULL 0.296 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 tier1 208 0 0.00 139 70 33.49 ANKS6 0 genome.wustl.edu 37 9 101552234 101552234 + RNA SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 9 101552234 101552234 C T SNP ANKS6 ENST00000471846 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ANKS6 HGNC ENSG00000165138 tier1 - - 20 0 0.00 14 10 41.67 AP3S1 0 genome.wustl.edu 37 5 115205741 115205741 + Silent SNP G G C TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 5 115205741 115205741 G C SNP AP3S1 ENST00000316788 human ensembl 74_37 +1 known silent c.189 p.L63 0.998 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP3S1 HGNC ENSG00000177879 tier1 - - 74 0 0.00 59 4 6.35 AP5Z1 0 genome.wustl.edu 37 7 4824679 4824679 + Nonsense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 7 4824679 4824679 C T SNP AP5Z1 ENST00000348624 human ensembl 74_37 +1 known nonsense c.931 p.R311* 0.938 NULL NULL - no_errors AP5Z1 HGNC ENSG00000242802 66 0 0.00 49 3 5.77 APOA5 0 genome.wustl.edu 37 11 116660917 116660917 + Missense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 11 116660917 116660917 C T SNP APOA5 ENST00000227665 human ensembl 74_37 -1 known missense c.1028 p.R343H 0.992 NULL pfam_ApoA1_A4_E - no_errors APOA5 HGNC ENSG00000110243 tier1 - - 52 0 0.00 43 4 8.51 AQR 0 genome.wustl.edu 37 15 35222464 35222464 + Silent SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 15 35222464 35222464 G A SNP AQR ENST00000156471 human ensembl 74_37 -1 known silent c.1009 p.L337 0.993 NULL superfamily_P-loop_NTPase - no_errors AQR HGNC ENSG00000021776 tier1 - - 48 0 0.00 36 23 38.98 ARID1A 0 genome.wustl.edu 37 1 27106916 27106916 + Frame_Shift_Del DEL A A - TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 1 27106916 27106916 A - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.6527 p.Q2176fs 1.000 pfam_DUF3518,superfamily_ARM-type_fold pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 tier1 57 0 0.00 16 17 51.52 ASMT 0 genome.wustl.edu 37 X 1746845 1746845 + RNA SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 X 1746845 1746845 G A SNP ASMT ENST00000509780 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors ASMT HGNC ENSG00000196433 tier1 - - 55 0 0.00 11 23 67.65 ATM 0 genome.wustl.edu 37 11 108218089 108218089 + Missense_Mutation SNP C C G TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 11 108218089 108218089 C G SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.8668 p.L2890V 0.996 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,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 ATM HGNC ENSG00000149311 26 0 0.00 31 2 6.06 ATP11A 0 genome.wustl.edu 37 13 113485792 113485792 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 13 113485792 113485792 G T SNP ATP11A ENST00000375630 human ensembl 74_37 +1 known missense c.1325 p.C442F 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11A HGNC ENSG00000068650 88 0 0.00 65 4 5.80 ATP8B3 0 genome.wustl.edu 37 19 1785540 1785540 + Silent SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 19 1785540 1785540 G A SNP ATP8B3 ENST00000539485 human ensembl 74_37 -1 known silent c.3351 p.P1117 0.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B3 HGNC ENSG00000130270 tier1 - - 82 0 0.00 43 27 38.57 AWAT1 0 genome.wustl.edu 37 X 69455666 69455666 + Silent SNP A A G TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 X 69455666 69455666 A G SNP AWAT1 ENST00000374521 human ensembl 74_37 +1 known silent c.177 p.P59 0.608 pfam_DAGAT pfam_DAGAT - no_errors AWAT1 HGNC ENSG00000204195 tier1 - - 92 0 0.00 20 43 68.25 B3GNT1 0 genome.wustl.edu 37 11 66113575 66113575 + Missense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 11 66113575 66113575 C T SNP B3GNT1 ENST00000311181 human ensembl 74_37 -1 known missense c.1193 p.R398H 1.000 NULL NULL - no_errors B3GNT1 HGNC ENSG00000174684 41 0 0.00 46 3 6.12 BDH2 0 genome.wustl.edu 37 4 104012408 104012408 + Missense_Mutation SNP C C G TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 4 104012408 104012408 C G SNP BDH2 ENST00000296424 human ensembl 74_37 -1 known missense c.283 p.E95Q 1.000 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect - no_errors BDH2 HGNC ENSG00000164039 71 0 0.00 50 4 7.41 BRINP1 0 genome.wustl.edu 37 9 122001026 122001026 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 9 122001026 122001026 G T SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.592 p.R198S 1.000 smart_MACPF pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 tier1 - - 38 0 0.00 24 5 17.24 C11orf84 0 genome.wustl.edu 37 11 63585506 63585506 + Silent SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 11 63585506 63585506 C T SNP C11orf84 ENST00000294244 human ensembl 74_37 +1 known silent c.357 p.D119 1.000 NULL NULL - no_errors C11orf84 HGNC ENSG00000168005 tier1 - - 46 0 0.00 33 4 10.81 C16orf86 0 genome.wustl.edu 37 16 67702161 67702161 + Silent SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 16 67702161 67702161 G A SNP C16orf86 ENST00000403458 human ensembl 74_37 +1 known silent c.612 p.L204 1.000 NULL NULL - no_errors C16orf86 HGNC ENSG00000159761 tier1 - - 82 0 0.00 43 45 51.14 C17orf47 0 genome.wustl.edu 37 17 56620413 56620413 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 17 56620413 56620413 G T SNP C17orf47 ENST00000321691 human ensembl 74_37 -1 known missense c.1135 p.P379T 0.009 NULL NULL - no_errors C17orf47 HGNC ENSG00000181013 tier1 - - 88 0 0.00 69 37 34.91 C17orf70 0 genome.wustl.edu 37 17 79517802 79517802 + Missense_Mutation SNP C C A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 17 79517802 79517802 C A SNP C17orf70 ENST00000327787 human ensembl 74_37 -1 known missense c.718 p.V240L 0.060 NULL NULL - no_errors C17orf70 HGNC ENSG00000185504 tier1 - - 64 0 0.00 58 4 6.45 C5orf17 0 genome.wustl.edu 37 5 23980951 23980951 + Splice_Site SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 5 23980951 23980951 G A SNP C5orf17 ENST00000512559 human ensembl 74_37 +1 known splice_site c.486+1 e4+1 0.998 - - - no_errors C5orf17 HGNC ENSG00000248874 tier1 - - 52 0 0.00 24 19 44.19 CACNA1B 0 genome.wustl.edu 37 9 140852080 140852080 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 9 140852080 140852080 G T SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.1277 p.R426I 0.985 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 53 0 0.00 43 3 6.52 CARS2 0 genome.wustl.edu 37 13 111296881 111296881 + RNA SNP T T C TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 13 111296881 111296881 T C SNP CARS2 ENST00000542774 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CARS2 HGNC ENSG00000134905 tier1 - - 33 0 0.00 27 4 12.90 CASP2 0 genome.wustl.edu 37 7 142989412 142989412 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 7 142989412 142989412 G T SNP CASP2 ENST00000310447 human ensembl 74_37 +1 known missense c.245 p.S82I 0.998 pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP2 HGNC ENSG00000106144 54 0 0.00 54 3 5.26 CCDC115 0 genome.wustl.edu 37 2 131097266 131097266 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 2 131097266 131097266 G A SNP CCDC115 ENST00000442217 human ensembl 74_37 -1 known missense c.500 p.A167V 0.000 NULL NULL - no_errors CCDC115 HGNC ENSG00000136710 tier1 - - 32 0 0.00 7 10 58.82 CCDC88C 0 genome.wustl.edu 37 14 91744555 91744555 + Missense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 14 91744555 91744555 C T SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known missense c.4769 p.G1590D 1.000 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 63 0 0.00 53 4 7.02 CCDC89 0 genome.wustl.edu 37 11 85396245 85396245 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 11 85396245 85396245 G A SNP CCDC89 ENST00000316398 human ensembl 74_37 -1 known missense c.929 p.A310V 0.883 NULL NULL - no_errors CCDC89 HGNC ENSG00000179071 27 0 0.00 30 2 6.25 CD163L1 0 genome.wustl.edu 37 12 7527487 7527487 + Missense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 12 7527487 7527487 C T SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.3034 p.A1012T 0.000 NULL pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 tier1 - - 74 0 0.00 60 4 6.25 CDH12 0 genome.wustl.edu 37 5 21802277 21802277 + Missense_Mutation SNP T T C TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 5 21802277 21802277 T C SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.1255 p.R419G 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 tier1 - - 41 0 0.00 31 19 38.00 CENPT 0 genome.wustl.edu 37 16 67863987 67863987 + Silent SNP A A G TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 16 67863987 67863987 A G SNP CENPT ENST00000219172 human ensembl 74_37 -1 known silent c.867 p.P289 0.015 NULL superfamily_Histone-fold - no_errors CENPT HGNC ENSG00000102901 71 0 0.00 51 3 5.56 CEP135 0 genome.wustl.edu 37 4 56885624 56885624 + Missense_Mutation SNP A A T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 4 56885624 56885624 A T SNP CEP135 ENST00000257287 human ensembl 74_37 +1 known missense c.3118 p.N1040Y 1.000 NULL superfamily_Prefoldin,superfamily_EB1_C - no_errors CEP135 HGNC ENSG00000174799 tier1 - - 77 0 0.00 63 4 5.97 CHAT 0 genome.wustl.edu 37 10 50828613 50828613 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 10 50828613 50828613 G T SNP CHAT ENST00000337653 human ensembl 74_37 +1 known missense c.652 p.V218L 0.894 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 tier1 - - 62 0 0.00 50 4 7.41 CIRH1A 0 genome.wustl.edu 37 16 69191113 69191113 + Missense_Mutation SNP A A G TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 16 69191113 69191113 A G SNP CIRH1A ENST00000314423 human ensembl 74_37 +1 known missense c.1414 p.K472E 1.000 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CIRH1A HGNC ENSG00000141076 tier1 - - 43 0 0.00 41 4 8.89 CNNM2 0 genome.wustl.edu 37 10 104809565 104809565 + Nonsense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 10 104809565 104809565 G T SNP CNNM2 ENST00000369878 human ensembl 74_37 +1 known nonsense c.1723 p.E575* 1.000 NULL pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 tier1 - - 103 0 0.00 59 30 33.71 COL25A1 0 genome.wustl.edu 37 4 109862572 109862572 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 4 109862572 109862572 G T SNP COL25A1 ENST00000399132 human ensembl 74_37 -1 known missense c.514 p.H172N 1.000 NULL pfam_Collagen - no_errors COL25A1 HGNC ENSG00000188517 tier1 - - 83 0 0.00 34 22 39.29 COL9A1 0 genome.wustl.edu 37 6 70965094 70965094 + Splice_Site SNP C C G TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 6 70965094 70965094 C G SNP COL9A1 ENST00000357250 human ensembl 74_37 -1 known splice_site c.1504-1 e22-1 1.000 - - - no_errors COL9A1 HGNC ENSG00000112280 tier1 - - 41 0 0.00 29 15 34.09 CRTAM 0 genome.wustl.edu 37 11 122722490 122722490 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 11 122722490 122722490 G A SNP CRTAM ENST00000227348 human ensembl 74_37 +1 known missense c.283 p.V95M 0.017 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CRTAM HGNC ENSG00000109943 tier1 - - 95 0 0.00 64 50 43.86 CSMD2 0 genome.wustl.edu 37 1 34083116 34083116 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 1 34083116 34083116 G T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.5929 p.P1977T 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 81 0 0.00 51 3 5.56 CTBS 0 genome.wustl.edu 37 1 85020793 85020793 + Silent SNP C C A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 1 85020793 85020793 C A SNP CTBS ENST00000370630 human ensembl 74_37 -1 known silent c.1047 p.R349 0.248 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CTBS HGNC ENSG00000117151 81 0 0.00 48 3 5.88 CWF19L1 0 genome.wustl.edu 37 10 101995434 101995434 + Nonsense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 10 101995434 101995434 G A SNP CWF19L1 ENST00000354105 human ensembl 74_37 -1 known nonsense c.1462 p.Q488* 1.000 pfam_Cwf19-like_C_dom-2 pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L1 HGNC ENSG00000095485 tier1 - - 40 0 0.00 50 4 7.41 CYFIP2 0 genome.wustl.edu 37 5 156727797 156727797 + Silent SNP T T C TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 5 156727797 156727797 T C SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known silent c.462 p.S154 0.031 pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 tier1 - - 50 0 0.00 28 8 22.22 DCAF11 0 genome.wustl.edu 37 14 24587630 24587630 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 14 24587630 24587630 G A SNP DCAF11 ENST00000446197 human ensembl 74_37 +1 known missense c.611 p.G204D 1.000 superfamily_WD40_repeat_dom,pirsf_WD_repeat_p23,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors DCAF11 HGNC ENSG00000100897 87 0 0.00 95 5 5.00 DCST2 0 genome.wustl.edu 37 1 154996981 154996981 + Missense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 1 154996981 154996981 C T SNP DCST2 ENST00000368424 human ensembl 74_37 -1 known missense c.1709 p.G570D 0.633 NULL pfam_DC_STAMP-like - no_errors DCST2 HGNC ENSG00000163354 tier1 - - 50 0 0.00 60 4 6.25 DDB2 0 genome.wustl.edu 37 11 47237962 47237962 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 11 47237962 47237962 G A SNP DDB2 ENST00000256996 human ensembl 74_37 +1 known missense c.203 p.S68N 0.981 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DDB2 HGNC ENSG00000134574 tier1 - - 81 0 0.00 55 4 6.78 DDX46 0 genome.wustl.edu 37 5 134147505 134147505 + Missense_Mutation SNP A A T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 5 134147505 134147505 A T SNP DDX46 ENST00000452510 human ensembl 74_37 +1 known missense c.2406 p.Q802H 0.998 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX46 HGNC ENSG00000145833 99 0 0.00 76 4 5.00 DDX55 0 genome.wustl.edu 37 12 124101146 124101146 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 12 124101146 124101146 G T SNP DDX55 ENST00000238146 human ensembl 74_37 +1 known missense c.1045 p.A349S 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX55 HGNC ENSG00000111364 tier1 - - 77 0 0.00 77 5 6.10 DNAH10 0 genome.wustl.edu 37 12 124403417 124403417 + Silent SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 12 124403417 124403417 G T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known silent c.11073 p.L3691 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 37 0 0.00 45 4 8.16 DNAH7 0 genome.wustl.edu 37 2 196709863 196709863 + Missense_Mutation SNP C C A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 2 196709863 196709863 C A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.8808 p.L2936F 0.002 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 tier1 - - 94 0 0.00 71 8 10.13 DNAH8 0 genome.wustl.edu 37 6 38854685 38854685 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 6 38854685 38854685 G T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.7727 p.G2576V 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 tier1 - - 50 0 0.00 54 5 8.47 DNTTIP2 0 genome.wustl.edu 37 1 94342746 94342746 + Missense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 1 94342746 94342746 C T SNP DNTTIP2 ENST00000436063 human ensembl 74_37 -1 known missense c.745 p.A249T 0.028 NULL pfam_Fcf2 - no_errors DNTTIP2 HGNC ENSG00000067334 91 0 0.00 47 4 7.84 DOCK2 0 genome.wustl.edu 37 5 169188391 169188391 + RNA SNP C C A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 5 169188391 169188391 C A SNP DOCK2 ENST00000523351 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DOCK2 HGNC ENSG00000134516 tier1 - - 17 0 0.00 6 3 33.33 DPYSL5 0 genome.wustl.edu 37 2 27121411 27121411 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 2 27121411 27121411 G T SNP DPYSL5 ENST00000288699 human ensembl 74_37 +1 known missense c.44 p.G15V 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 tier1 - - 57 0 0.00 50 4 7.41 DROSHA 0 genome.wustl.edu 37 5 31409237 31409237 + Silent SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 5 31409237 31409237 G A SNP DROSHA ENST00000344624 human ensembl 74_37 -1 known silent c.3780 p.D1260 1.000 pfscan_dsRNA-bd_dom pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 tier1 - - 101 0 0.00 89 5 5.32 DSCAML1 0 genome.wustl.edu 37 11 117352705 117352705 + Silent SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 11 117352705 117352705 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.2712 p.N904 0.995 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 tier1 - - 49 0 0.00 25 26 50.98 DUXA 0 genome.wustl.edu 37 19 57672115 57672115 + Nonsense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 19 57672115 57672115 G A SNP DUXA ENST00000554048 human ensembl 74_37 -1 known nonsense c.76 p.Q26* 0.026 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors DUXA HGNC ENSG00000258873 79 0 0.00 69 4 5.48 DYNC1H1 0 genome.wustl.edu 37 14 102471558 102471558 + Silent SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 14 102471558 102471558 G T SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known silent c.5418 p.R1806 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 tier1 - - 53 0 0.00 47 4 7.84 EFCAB1 0 genome.wustl.edu 37 8 49647678 49647678 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 8 49647678 49647678 G T SNP EFCAB1 ENST00000262103 human ensembl 74_37 -1 known missense c.33 p.D11E 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors EFCAB1 HGNC ENSG00000034239 tier1 - - 63 0 0.00 62 4 6.06 EFNB2 0 genome.wustl.edu 37 13 107164913 107164913 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 13 107164913 107164913 G T SNP EFNB2 ENST00000245323 human ensembl 74_37 -1 known missense c.370 p.L124I 1.000 pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB2 HGNC ENSG00000125266 78 0 0.00 76 4 5.00 EIF2B1 0 genome.wustl.edu 37 12 124114969 124114969 + Missense_Mutation SNP A A G TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 12 124114969 124114969 A G SNP EIF2B1 ENST00000424014 human ensembl 74_37 -1 known missense c.227 p.I76T 1.000 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B1 HGNC ENSG00000111361 54 0 0.00 57 3 5.00 EML2 0 genome.wustl.edu 37 19 46124822 46124822 + Silent SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 19 46124822 46124822 G A SNP EML2 ENST00000587152 human ensembl 74_37 -1 known silent c.1518 p.D506 1.000 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML2 HGNC ENSG00000125746 tier1 rs148351202 - 110 0 0.00 64 38 37.25 ENSG00000225914 0 genome.wustl.edu 37 6 32231726 32231727 + RNA INS - - T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 6 32231726 32231727 - T INS ENSG00000225914 ENST00000425033 human ensembl 74_37 +1 known rna NULL NULL 0.372:0.374 - - - no_errors XXbac-BPG154L12.4 Clone_based_vega_gene ENSG00000225914 tier1 37 0 0.00 36 5 12.20 ENSG00000237268 0 genome.wustl.edu 37 7 56500213 56500213 + RNA DEL T T - TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 7 56500213 56500213 T - DEL ENSG00000237268 ENST00000443198 human ensembl 74_37 -1 known rna NULL NULL 0.783 - - - no_errors RP13-492C18.2 Clone_based_vega_gene ENSG00000237268 tier1 11 0 0.00 9 2 18.18 ENSG00000238186 0 genome.wustl.edu 37 1 40981495 40981495 + RNA SNP A A T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 1 40981495 40981495 A T SNP ENSG00000238186 ENST00000437060 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-656D10.6 Clone_based_vega_gene ENSG00000238186 tier1 - - 47 0 0.00 18 3 14.29 ENSG00000272769 0 genome.wustl.edu 37 2 133103794 133103794 + RNA SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 2 133103794 133103794 C T SNP ENSG00000272769 ENST00000608279 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-725P16.2 Clone_based_vega_gene ENSG00000272769 tier1 rs4954311 - 8 0 0.00 1 4 80.00 ENTPD1 0 genome.wustl.edu 37 10 97607215 97607215 + Nonsense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 10 97607215 97607215 G T SNP ENTPD1 ENST00000371207 human ensembl 74_37 +1 known nonsense c.862 p.E288* 0.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD1 HGNC ENSG00000138185 tier1 - - 70 0 0.00 71 4 5.33 ERCC6 0 genome.wustl.edu 37 10 50691461 50691461 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 10 50691461 50691461 G T SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known missense c.1923 p.H641Q 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 tier1 - - 97 0 0.00 58 42 42.00 ERLEC1 0 genome.wustl.edu 37 2 54040157 54040157 + Silent SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 2 54040157 54040157 G A SNP ERLEC1 ENST00000185150 human ensembl 74_37 +1 known silent c.1173 p.K391 1.000 pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors ERLEC1 HGNC ENSG00000068912 tier1 - - 45 0 0.00 36 26 41.94 ERLIN1 0 genome.wustl.edu 37 10 101912010 101912010 + Missense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 10 101912010 101912010 C T SNP ERLIN1 ENST00000407654 human ensembl 74_37 -1 known missense c.925 p.D309N 1.000 NULL pfam_Band_7,smart_Band_7 - no_errors ERLIN1 HGNC ENSG00000107566 tier1 - - 96 0 0.00 70 4 5.33 EXT1 0 genome.wustl.edu 37 8 118811971 118811971 + Nonsense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 8 118811971 118811971 G A SNP EXT1 ENST00000378204 human ensembl 74_37 -1 known nonsense c.2221 p.R741* 1.000 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 tier1 - - 74 0 0.00 39 20 33.90 FAM134A 0 genome.wustl.edu 37 2 220044907 220044907 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 2 220044907 220044907 G T SNP FAM134A ENST00000430297 human ensembl 74_37 +1 known missense c.495 p.W165C 1.000 pfam_Reticulon pfam_Reticulon - no_errors FAM134A HGNC ENSG00000144567 57 0 0.00 71 4 5.33 FAM184B 0 genome.wustl.edu 37 4 17782820 17782820 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 4 17782820 17782820 G A SNP FAM184B ENST00000265018 human ensembl 74_37 -1 known missense c.103 p.H35Y 1.000 NULL NULL - no_errors FAM184B HGNC ENSG00000047662 61 0 0.00 52 3 5.45 FAT1 0 genome.wustl.edu 37 4 187554967 187554967 + Silent SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 4 187554967 187554967 G A SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known silent c.4194 p.Y1398 0.656 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 61 0 0.00 52 3 5.45 FBN2 0 genome.wustl.edu 37 5 127614384 127614384 + Missense_Mutation SNP T T C TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 5 127614384 127614384 T C SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.7288 p.T2430A 1.000 pirsf_FBN,pfam_TB_dom,superfamily_TB_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 - - 59 0 0.00 45 18 28.57 FBXW7 0 genome.wustl.edu 37 4 153247174 153247175 + Frame_Shift_Ins INS - - TATT TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 4 153247174 153247175 - TATT INS FBXW7 ENST00000281708 human ensembl 74_37 -1 known frame_shift_ins c.1628_1627 p.R543fs 1.000:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 tier1 98 0 0.00 65 20 23.53 FBXW7 0 genome.wustl.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G C TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 4 153247289 153247289 G C SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known missense c.1513 p.R505G 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 tier1 - - 59 0 0.00 30 32 51.61 FLJ45256 0 genome.wustl.edu 37 16 24674401 24674401 + RNA SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 16 24674401 24674401 G T SNP FLJ45256 ENST00000414816 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC012317.1 Clone_based_vega_gene ENSG00000224310 tier1 - - 46 0 0.00 13 3 18.75 FLT4 0 genome.wustl.edu 37 5 180056281 180056281 + Missense_Mutation SNP C C A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 5 180056281 180056281 C A SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.963 p.E321D 0.997 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 40 0 0.00 34 2 5.56 FMN2 0 genome.wustl.edu 37 1 240370709 240370709 + Missense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 1 240370709 240370709 C T SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.2597 p.S866F 0.000 smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 53 0 0.00 41 20 32.79 FNBP1 0 genome.wustl.edu 37 9 132662716 132662716 + Missense_Mutation SNP C C A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 9 132662716 132662716 C A SNP FNBP1 ENST00000446176 human ensembl 74_37 -1 known missense c.1539 p.Q513H 1.000 NULL pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors FNBP1 HGNC ENSG00000187239 tier1 - - 68 0 0.00 67 4 5.56 GALNT15 0 genome.wustl.edu 37 3 16254213 16254213 + Silent SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 3 16254213 16254213 G T SNP GALNT15 ENST00000339732 human ensembl 74_37 +1 known silent c.1335 p.L445 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 GALNT15 HGNC ENSG00000131386 50 0 0.00 30 2 6.25 GBP7 0 genome.wustl.edu 37 1 89599004 89599004 + Missense_Mutation SNP C C G TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 1 89599004 89599004 C G SNP GBP7 ENST00000294671 human ensembl 74_37 -1 known missense c.1599 p.K533N 0.012 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP7 HGNC ENSG00000213512 tier1 - - 77 0 0.00 38 20 34.48 GCG 0 genome.wustl.edu 37 2 163000642 163000642 + Missense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 2 163000642 163000642 C T SNP GCG ENST00000375497 human ensembl 74_37 -1 known missense c.431 p.R144H 1.000 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP - no_errors GCG HGNC ENSG00000115263 tier1 - - 43 0 0.00 17 6 26.09 GDF11 0 genome.wustl.edu 37 12 56142370 56142370 + Missense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 12 56142370 56142370 C T SNP GDF11 ENST00000257868 human ensembl 74_37 +1 known missense c.446 p.T149M 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF11 HGNC ENSG00000135414 55 0 0.00 62 4 6.06 GHSR 0 genome.wustl.edu 37 3 172165753 172165753 + Missense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 3 172165753 172165753 C T SNP GHSR ENST00000241256 human ensembl 74_37 -1 known missense c.451 p.A151T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R,prints_GPCR_Rhodpsn - no_errors GHSR HGNC ENSG00000121853 tier1 - - 41 0 0.00 64 4 5.80 GLI1 0 genome.wustl.edu 37 12 57860105 57860105 + Missense_Mutation SNP T T A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 12 57860105 57860105 T A SNP GLI1 ENST00000228682 human ensembl 74_37 +1 known missense c.845 p.F282Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 tier1 - - 74 0 0.00 55 4 6.78 GLRA1 0 genome.wustl.edu 37 5 151266295 151266295 + Nonsense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 5 151266295 151266295 G T SNP GLRA1 ENST00000462581 human ensembl 74_37 -1 known nonsense c.111 p.C37* 1.000 NULL NULL - no_errors GLRA1 HGNC ENSG00000145888 tier1 - - 75 0 0.00 74 5 6.33 GLTSCR1L 0 genome.wustl.edu 37 6 42797429 42797429 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 6 42797429 42797429 G T SNP GLTSCR1L ENST00000314073 human ensembl 74_37 +1 known missense c.1358 p.R453M 1.000 NULL NULL - no_errors GLTSCR1L HGNC ENSG00000112624 41 0 0.00 26 2 7.14 GTF2E1 0 genome.wustl.edu 37 3 120500159 120500159 + Nonsense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 3 120500159 120500159 G T SNP GTF2E1 ENST00000283875 human ensembl 74_37 +1 known nonsense c.1162 p.E388* 1.000 pfam_TFIIE_asu_C pfam_TFIIEa/SarR/Rpc3_HTH_dom,pfam_TFIIE_asu_C,pfam_Znf_TFIIB,smart_TFIIE_asu - no_errors GTF2E1 HGNC ENSG00000153767 27 0 0.00 44 4 8.33 GYG2 0 genome.wustl.edu 37 X 2799152 2799152 + Silent SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 X 2799152 2799152 C T SNP GYG2 ENST00000381163 human ensembl 74_37 +1 known silent c.1404 p.S468 0.000 NULL pfam_Glyco_trans_8 - no_errors GYG2 HGNC ENSG00000056998 tier1 - - 48 0 0.00 33 4 10.81 HERC1 0 genome.wustl.edu 37 15 63922817 63922817 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 15 63922817 63922817 G A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.12814 p.P4272S 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 tier1 - - 48 0 0.00 41 4 8.89 HIRA 0 genome.wustl.edu 37 22 19373136 19373138 + In_Frame_Del DEL GCT GCT - TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 22 19373136 19373138 GCT - DEL HIRA ENST00000263208 human ensembl 74_37 -1 known in_frame_del c.1237_1235 p.Q412in_frame_del 0.970:0.964:0.994 NULL pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors HIRA HGNC ENSG00000100084 tier1 32 0 0.00 28 3 9.68 IFRD2 0 genome.wustl.edu 37 3 50327194 50327195 + Splice_Site DEL CT CT - TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 3 50327194 50327195 CT - DEL IFRD2 ENST00000336089 human ensembl 74_37 -1 known splice_site_del c.1045-2_1045-1 e9-1 1.000:1.000 - - - no_errors IFRD2 HGNC ENSG00000214706 tier1 39 0 0.00 12 14 53.85 IL1RAPL1 0 genome.wustl.edu 37 X 29301302 29301302 + Silent SNP A A T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 X 29301302 29301302 A T SNP IL1RAPL1 ENST00000302196 human ensembl 74_37 +1 known silent c.330 p.L110 0.091 smart_Ig_sub,pfscan_Ig-like_dom pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RAPL1 HGNC ENSG00000169306 tier1 - - 111 0 0.00 71 4 5.33 ING1 0 genome.wustl.edu 37 13 111372209 111372209 + Frame_Shift_Del DEL G G - TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 13 111372209 111372209 G - DEL ING1 ENST00000375774 human ensembl 74_37 +1 known frame_shift_del c.1199 p.E402fs 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING1 HGNC ENSG00000153487 tier1 35 0 0.00 33 3 8.33 IPP 0 genome.wustl.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 1 46184897 46184898 AC - DEL IPP ENST00000396478 human ensembl 74_37 -1 known frame_shift_del c.1164_1163 p.C388fs 1.000:1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors IPP HGNC ENSG00000197429 tier1 52 0 0.00 29 4 12.12 IQCE 0 genome.wustl.edu 37 7 2645596 2645596 + Silent SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 7 2645596 2645596 C T SNP IQCE ENST00000402050 human ensembl 74_37 +1 known silent c.1830 p.S610 0.000 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCE HGNC ENSG00000106012 tier1 - - 114 0 0.00 92 68 42.50 ITPR1 0 genome.wustl.edu 37 3 4703790 4703790 + Missense_Mutation SNP G G C TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 3 4703790 4703790 G C SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.1231 p.D411H 1.000 pfam_MIR_motif,superfamily_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 tier1 - - 93 0 0.00 31 32 50.79 ITPR2 0 genome.wustl.edu 37 12 26877672 26877672 + Missense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 12 26877672 26877672 C T SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.283 p.A95T 1.000 pfam_Ins145_P3_rcpt pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 tier1 - - 55 0 0.00 37 4 9.76 JAKMIP2 0 genome.wustl.edu 37 5 147015801 147015801 + Missense_Mutation SNP T T A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 5 147015801 147015801 T A SNP JAKMIP2 ENST00000265272 human ensembl 74_37 -1 known missense c.1661 p.Q554L 1.000 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 tier1 - - 52 0 0.00 49 4 7.55 KCNA5 0 genome.wustl.edu 37 12 5155089 5155089 + Silent SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 12 5155089 5155089 C T SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known silent c.1776 p.S592 1.000 prints_K_chnl_volt-dep_Kv1.5 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 48 0 0.00 37 2 5.13 KCNQ2 0 genome.wustl.edu 37 20 62103553 62103553 + Silent SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 20 62103553 62103553 C T SNP KCNQ2 ENST00000354587 human ensembl 74_37 -1 known silent c.264 p.P88 0.989 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 tier1 - - 75 0 0.00 48 23 32.39 KEAP1 0 genome.wustl.edu 37 19 10602340 10602340 + Missense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 19 10602340 10602340 C T SNP KEAP1 ENST00000171111 human ensembl 74_37 -1 known missense c.1238 p.R413H 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KEAP1 HGNC ENSG00000079999 tier1 - - 26 0 0.00 24 14 36.84 KHDC1 0 genome.wustl.edu 37 6 73951401 73951401 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 6 73951401 73951401 G T SNP KHDC1 ENST00000257765 human ensembl 74_37 -1 known missense c.346 p.L116M 0.014 NULL NULL - no_errors KHDC1 HGNC ENSG00000135314 tier1 - - 106 0 0.00 88 5 5.38 KIAA1551 0 genome.wustl.edu 37 12 32134340 32134340 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 12 32134340 32134340 G A SNP KIAA1551 ENST00000312561 human ensembl 74_37 +1 known missense c.451 p.A151T 0.000 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 55 0 0.00 54 3 5.26 KIAA1958 0 genome.wustl.edu 37 9 115422317 115422317 + Silent SNP C C A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 9 115422317 115422317 C A SNP KIAA1958 ENST00000536272 human ensembl 74_37 +1 known silent c.2203 p.R735 1.000 NULL pfam_DUF3504,superfamily_Integrase_Lambda-type_N - no_errors KIAA1958 HGNC ENSG00000165185 39 0 0.00 53 3 5.36 L1CAM 0 genome.wustl.edu 37 X 153132169 153132169 + Missense_Mutation SNP T T C TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 X 153132169 153132169 T C SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known missense c.2372 p.Q791R 1.000 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_dom - no_errors L1CAM HGNC ENSG00000198910 tier1 - - 139 0 0.00 58 4 6.45 LGR5 0 genome.wustl.edu 37 12 71978455 71978455 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 12 71978455 71978455 G A SNP LGR5 ENST00000266674 human ensembl 74_37 +1 known missense c.2665 p.A889T 0.850 NULL pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors LGR5 HGNC ENSG00000139292 tier1 - - 62 0 0.00 52 4 7.02 LMTK2 0 genome.wustl.edu 37 7 97821009 97821009 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 7 97821009 97821009 G A SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known missense c.1232 p.R411Q 1.000 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 tier1 - - 45 0 0.00 52 4 7.14 MAP1B 0 genome.wustl.edu 37 5 71494166 71494166 + Missense_Mutation SNP T T C TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 5 71494166 71494166 T C SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.4984 p.F1662L 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 47 0 0.00 44 3 6.38 MCCC2 0 genome.wustl.edu 37 5 70945901 70945901 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 5 70945901 70945901 G T SNP MCCC2 ENST00000340941 human ensembl 74_37 +1 known missense c.1379 p.R460I 0.998 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C - no_errors MCCC2 HGNC ENSG00000131844 tier1 - - 55 0 0.00 57 4 6.56 MCPH1 0 genome.wustl.edu 37 8 6289098 6289099 + Frame_Shift_Ins INS - - A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 8 6289098 6289099 - A INS MCPH1 ENST00000344683 human ensembl 74_37 +1 known frame_shift_ins c.312_313 p.R107fs 0.002:0.022 NULL pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC ENSG00000147316 tier1 46 0 0.00 31 4 11.43 MEI1 0 genome.wustl.edu 37 22 42180664 42180664 + Silent SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 22 42180664 42180664 C T SNP MEI1 ENST00000401548 human ensembl 74_37 +1 known silent c.3222 p.A1074 0.990 NULL superfamily_ARM-type_fold - no_errors MEI1 HGNC ENSG00000167077 66 0 0.00 58 4 6.45 METTL11B 0 genome.wustl.edu 37 1 170129813 170129813 + Silent SNP A A G TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 1 170129813 170129813 A G SNP METTL11B ENST00000439373 human ensembl 74_37 +1 known silent c.309 p.K103 1.000 pfam_DUF858_MeTrfase_lik,pirsf_DUF858_MeTrfase_lik pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pirsf_DUF858_MeTrfase_lik - no_errors METTL11B HGNC ENSG00000203740 tier1 - - 74 0 0.00 79 30 27.27 MIA2 0 genome.wustl.edu 37 14 39716400 39716400 + Missense_Mutation SNP C C G TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 14 39716400 39716400 C G SNP MIA2 ENST00000556784 human ensembl 74_37 +1 putative missense c.619 p.R207G 0.022 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA2 HGNC ENSG00000150526 tier1 - - 83 0 0.00 61 28 31.46 MICALCL 0 genome.wustl.edu 37 11 12315446 12315446 + Silent SNP A A G TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 11 12315446 12315446 A G SNP MICALCL ENST00000256186 human ensembl 74_37 +1 known silent c.468 p.K156 0.000 NULL pfam_DUF3585,smart_ProQ/FinO - no_errors MICALCL HGNC ENSG00000133808 tier1 - - 69 0 0.00 56 4 6.67 MIR301B 0 genome.wustl.edu 37 22 22007313 22007313 + RNA SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 22 22007313 22007313 G T SNP MIR301B ENST00000390813 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors MIR301B HGNC ENSG00000212102 tier1 - - 57 0 0.00 34 4 10.53 MMP3 0 genome.wustl.edu 37 11 102712941 102712941 + Missense_Mutation SNP C C A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 11 102712941 102712941 C A SNP MMP3 ENST00000299855 human ensembl 74_37 -1 known missense c.569 p.G190V 0.790 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP3 HGNC ENSG00000149968 tier1 - - 94 0 0.00 72 41 36.28 MRC2 0 genome.wustl.edu 37 17 60742085 60742085 + Missense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 17 60742085 60742085 C T SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known missense c.295 p.P99S 0.992 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 tier1 - - 35 0 0.00 39 4 9.30 MRPS2 0 genome.wustl.edu 37 9 138395958 138395958 + Silent SNP T T C TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 9 138395958 138395958 T C SNP MRPS2 ENST00000241600 human ensembl 74_37 +1 known silent c.870 p.A290 0.000 NULL pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2 - no_errors MRPS2 HGNC ENSG00000122140 54 0 0.00 41 4 8.89 MT-ND5 0 genome.wustl.edu 37 MT 14110 14110 + Missense_Mutation SNP T T A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 MT 14110 14110 T A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.1774 p.F592I NULL pfam_NADH_DH_su5_C pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 48 0 0.00 22 4 15.38 MTERF 0 genome.wustl.edu 37 7 91503128 91503128 + Missense_Mutation SNP T T A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 7 91503128 91503128 T A SNP MTERF ENST00000351870 human ensembl 74_37 -1 known missense c.980 p.K327M 1.000 pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERF HGNC ENSG00000127989 tier1 - - 66 0 0.00 67 4 5.63 MUC5B 0 genome.wustl.edu 37 11 1260766 1260766 + Missense_Mutation SNP C C A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 11 1260766 1260766 C A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.3562 p.H1188N 0.037 superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 135 0 0.00 92 42 31.34 MYL10 0 genome.wustl.edu 37 7 101256805 101256805 + Missense_Mutation SNP C C G TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 7 101256805 101256805 C G SNP MYL10 ENST00000223167 human ensembl 74_37 -1 known missense c.631 p.D211H 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL10 HGNC ENSG00000106436 tier1 - - 75 0 0.00 39 17 30.36 MYO7B 0 genome.wustl.edu 37 2 128327486 128327486 + Splice_Site SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 2 128327486 128327486 G A SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known splice_site c.592+1 e5+1 1.000 - - - no_errors MYO7B HGNC ENSG00000169994 85 0 0.00 76 4 5.00 MYT1 0 genome.wustl.edu 37 20 62853285 62853285 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 20 62853285 62853285 G T SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known missense c.2362 p.D788Y 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 51 0 0.00 53 3 5.36 NARS2 0 genome.wustl.edu 37 11 78282480 78282480 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 11 78282480 78282480 G T SNP NARS2 ENST00000281038 human ensembl 74_37 -1 known missense c.151 p.R51S 1.000 pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,tigrfam_Asn-tRNA-ligase pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase - no_errors NARS2 HGNC ENSG00000137513 46 0 0.00 54 3 5.17 NCAM2 0 genome.wustl.edu 37 21 22664561 22664561 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 21 22664561 22664561 G A SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.619 p.V207M 1.000 prints_Neural_cell_adh pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 55 0 0.00 33 3 8.33 NDUFS2 0 genome.wustl.edu 37 1 161180118 161180118 + Nonsense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 1 161180118 161180118 C T SNP NDUFS2 ENST00000367993 human ensembl 74_37 +1 known nonsense c.805 p.R269* 0.998 pfam_NADH_Q_OxRdtase_suD,tigrfam_NDH1_su_D/H pfam_NADH_Q_OxRdtase_suD,tigrfam_NDH1_su_D/H - no_errors NDUFS2 HGNC ENSG00000158864 36 0 0.00 18 2 10.00 NFATC2IP 0 genome.wustl.edu 37 16 28970072 28970072 + Missense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 16 28970072 28970072 C T SNP NFATC2IP ENST00000320805 human ensembl 74_37 +1 known missense c.881 p.A294V 0.981 smart_Ubiquitin_dom pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors NFATC2IP HGNC ENSG00000176953 50 0 0.00 67 4 5.63 NFE2L2 0 genome.wustl.edu 37 2 178098975 178098975 + Missense_Mutation SNP A A T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 2 178098975 178098975 A T SNP NFE2L2 ENST00000397062 human ensembl 74_37 -1 known missense c.70 p.W24R 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 tier1 - - 31 0 0.00 11 13 54.17 NIPA1 0 genome.wustl.edu 37 15 23049305 23049306 + Frame_Shift_Ins INS - - C TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 15 23049305 23049306 - C INS NIPA1 ENST00000337435 human ensembl 74_37 -1 known frame_shift_ins c.514_513 p.L171fs 1.000:1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPA1 HGNC ENSG00000170113 tier1 46 0 0.00 21 18 46.15 NLRC5 0 genome.wustl.edu 37 16 57101728 57101729 + Frame_Shift_Ins INS - - G TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 16 57101728 57101729 - G INS NLRC5 ENST00000262510 human ensembl 74_37 +1 known frame_shift_ins c.4487_4488 p.K1497fs 1.000:0.994 smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 tier1 64 0 0.00 32 18 36.00 NLRC5 0 genome.wustl.edu 37 16 57113144 57113144 + Missense_Mutation SNP A A G TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 16 57113144 57113144 A G SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known missense c.5177 p.N1726S 1.000 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 tier1 - - 114 0 0.00 68 35 33.98 NME7 0 genome.wustl.edu 37 1 169199958 169199958 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 1 169199958 169199958 G T SNP NME7 ENST00000367811 human ensembl 74_37 -1 known missense c.988 p.P330T 1.000 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK7 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Uncharacterised_DM10,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase - no_errors NME7 HGNC ENSG00000143156 54 0 0.00 80 5 5.88 NSUN7 0 genome.wustl.edu 37 4 40778076 40778076 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 4 40778076 40778076 G A SNP NSUN7 ENST00000381782 human ensembl 74_37 +1 known missense c.836 p.R279Q 1.000 NULL pfam_Fmu/NOL1/Nop2p - no_errors NSUN7 HGNC ENSG00000179299 37 0 0.00 28 2 6.67 NUMB 0 genome.wustl.edu 37 14 73750981 73750981 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 14 73750981 73750981 G T SNP NUMB ENST00000355058 human ensembl 74_37 -1 known missense c.757 p.L253M 0.994 pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMB HGNC ENSG00000133961 74 0 0.00 60 4 6.25 NVL 0 genome.wustl.edu 37 1 224495770 224495770 + Missense_Mutation SNP T T A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 1 224495770 224495770 T A SNP NVL ENST00000281701 human ensembl 74_37 -1 known missense c.538 p.S180C 0.005 NULL pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NVL HGNC ENSG00000143748 tier1 - - 152 0 0.00 129 42 24.56 NYAP2 0 genome.wustl.edu 37 2 226378162 226378162 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 2 226378162 226378162 G A SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known missense c.297 p.M99I 1.000 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 tier1 - - 36 0 0.00 33 4 10.81 OBSCN 0 genome.wustl.edu 37 1 228495134 228495134 + Missense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 1 228495134 228495134 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.12368 p.T4123M 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 51 0 0.00 33 43 56.58 OR2A2 0 genome.wustl.edu 37 7 143807603 143807603 + Missense_Mutation SNP A A T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 7 143807603 143807603 A T SNP OR2A2 ENST00000408979 human ensembl 74_37 +1 known missense c.928 p.M310L 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A2 HGNC ENSG00000221989 tier1 - - 42 0 0.00 51 4 7.27 OR4A5 0 genome.wustl.edu 37 11 51412174 51412174 + Silent SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 11 51412174 51412174 G A SNP OR4A5 ENST00000319760 human ensembl 74_37 -1 known silent c.222 p.T74 0.076 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A5 HGNC ENSG00000221840 tier1 - - 52 0 0.00 31 24 43.64 OR4L1 0 genome.wustl.edu 37 14 20528746 20528747 + Frame_Shift_Ins INS - - C TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 14 20528746 20528747 - C INS OR4L1 ENST00000315683 human ensembl 74_37 +1 known frame_shift_ins c.543_544 p.L182fs 0.994:0.995 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4L1 HGNC ENSG00000176246 tier1 44 0 0.00 34 16 32.00 OR5B2 0 genome.wustl.edu 37 11 58190660 58190660 + Silent SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 11 58190660 58190660 G A SNP OR5B2 ENST00000302581 human ensembl 74_37 -1 known silent c.75 p.L25 0.995 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B2 HGNC ENSG00000172365 tier1 - - 88 0 0.00 53 29 35.37 PAN3 0 genome.wustl.edu 37 13 28855478 28855478 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 13 28855478 28855478 G T SNP PAN3 ENST00000380958 human ensembl 74_37 +1 known missense c.2346 p.R782S 1.000 NULL superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom - no_errors PAN3 HGNC ENSG00000152520 tier1 - - 63 0 0.00 55 4 6.78 PAPPA2 0 genome.wustl.edu 37 1 176564652 176564652 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 1 176564652 176564652 G A SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.1912 p.D638N 1.000 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 tier1 - - 59 0 0.00 64 28 30.43 PAXIP1 0 genome.wustl.edu 37 7 154760609 154760611 + In_Frame_Del DEL CTG CTG - TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 7 154760609 154760611 CTG - DEL PAXIP1 ENST00000397192 human ensembl 74_37 -1 known in_frame_del c.1302_1300 p.Q434in_frame_del 0.998:0.998:0.999 NULL pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 tier1 27 0 0.00 23 3 11.54 PBRM1 0 genome.wustl.edu 37 3 52675972 52675972 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 3 52675972 52675972 G T SNP PBRM1 ENST00000296302 human ensembl 74_37 -1 known missense c.1085 p.A362D 1.000 superfamily_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 tier1 - - 101 0 0.00 62 5 7.35 PGM5P2 0 genome.wustl.edu 37 9 69117762 69117762 + RNA SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 9 69117762 69117762 G T SNP PGM5P2 ENST00000591037 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors PGM5P2 HGNC ENSG00000227558 tier1 - - 159 0 0.00 130 8 5.80 PHF2 0 genome.wustl.edu 37 9 96420441 96420441 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 9 96420441 96420441 G T SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known missense c.1162 p.G388W 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 tier1 - - 79 0 0.00 68 4 5.56 PHKA1 0 genome.wustl.edu 37 X 71856232 71856232 + Nonsense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 X 71856232 71856232 G T SNP PHKA1 ENST00000373539 human ensembl 74_37 -1 known nonsense c.1464 p.C488* 0.993 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 tier1 - - 55 0 0.00 44 4 8.33 PHOX2A 0 genome.wustl.edu 37 11 71952305 71952305 + Silent SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 11 71952305 71952305 G A SNP PHOX2A ENST00000298231 human ensembl 74_37 -1 known silent c.246 p.S82 0.916 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PHOX2A HGNC ENSG00000165462 tier1 - - 28 0 0.00 13 5 27.78 PIKFYVE 0 genome.wustl.edu 37 2 209150469 209150469 + Missense_Mutation SNP A A T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 2 209150469 209150469 A T SNP PIKFYVE ENST00000443896 human ensembl 74_37 +1 known missense c.461 p.H154L 0.929 NULL NULL - no_errors PIKFYVE HGNC ENSG00000115020 tier1 - - 31 0 0.00 57 4 6.56 PITPNB 0 genome.wustl.edu 37 22 28293845 28293845 + Missense_Mutation SNP T T A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 22 28293845 28293845 T A SNP PITPNB ENST00000455418 human ensembl 74_37 -1 known missense c.239 p.E80V 1.000 pfam_PI_transfer pfam_PI_transfer,prints_PI_transfer - no_errors PITPNB HGNC ENSG00000180957 tier1 - - 72 0 0.00 62 5 7.46 PLEKHG3 0 genome.wustl.edu 37 14 65210991 65210991 + RNA SNP C C A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 14 65210991 65210991 C A SNP PLEKHG3 ENST00000492928 human ensembl 74_37 +1 known rna NULL NULL 0.183 - - - no_errors PLEKHG3 HGNC ENSG00000126822 tier1 - - 61 0 0.00 58 4 6.45 PLXNA4 0 genome.wustl.edu 37 7 131913111 131913111 + Silent SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 7 131913111 131913111 G A SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known silent c.1722 p.N574 0.980 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 tier1 - - 104 0 0.00 57 45 44.12 POLD3 0 genome.wustl.edu 37 11 74323975 74323975 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 11 74323975 74323975 G T SNP POLD3 ENST00000263681 human ensembl 74_37 +1 known missense c.312 p.Q104H 1.000 pfam_DNA_polymerase_subunit_Cdc27 pfam_DNA_polymerase_subunit_Cdc27 - no_errors POLD3 HGNC ENSG00000077514 tier1 - - 65 0 0.00 51 4 7.27 POLR2J4 0 genome.wustl.edu 37 7 43992213 43992213 + RNA SNP A A T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 7 43992213 43992213 A T SNP POLR2J4 ENST00000427076 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors POLR2J4 HGNC ENSG00000214783 tier1 - - 38 0 0.00 26 4 13.33 PPOX 0 genome.wustl.edu 37 1 161139725 161139725 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 1 161139725 161139725 G T SNP PPOX ENST00000352210 human ensembl 74_37 +1 known missense c.898 p.A300S 0.108 pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase - no_errors PPOX HGNC ENSG00000143224 tier1 - - 34 0 0.00 49 4 7.55 PRDM10 0 genome.wustl.edu 37 11 129814909 129814909 + Splice_Site SNP T T C TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 11 129814909 129814909 T C SNP PRDM10 ENST00000358825 human ensembl 74_37 -1 known splice_site c.521-2 e5-2 1.000 - - - no_errors PRDM10 HGNC ENSG00000170325 tier1 - - 78 0 0.00 58 4 6.45 PRKG1 0 genome.wustl.edu 37 10 53814276 53814276 + Silent SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 10 53814276 53814276 G A SNP PRKG1 ENST00000373980 human ensembl 74_37 +1 known silent c.795 p.R265 1.000 pirsf_cGMP-dependent_protein_kinase,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom - no_errors PRKG1 HGNC ENSG00000185532 tier1 - - 47 0 0.00 48 4 7.69 PRKXP1 0 genome.wustl.edu 37 15 101088125 101088126 + RNA INS - - T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 15 101088125 101088126 - T INS PRKXP1 ENST00000602585 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-526I2.5 Clone_based_vega_gene ENSG00000270127 tier1 30 0 0.00 32 5 13.51 PROSC 0 genome.wustl.edu 37 8 37633454 37633454 + Nonsense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 8 37633454 37633454 G T SNP PROSC ENST00000328195 human ensembl 74_37 +1 known nonsense c.616 p.E206* 0.187 pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001 pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001 - no_errors PROSC HGNC ENSG00000147471 tier1 - - 64 0 0.00 33 17 34.00 PRSS3P3 0 genome.wustl.edu 37 7 141988540 141988540 + RNA SNP C C G TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 7 141988540 141988540 C G SNP PRSS3P3 ENST00000463748 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PRSS3P3 HGNC ENSG00000242115 tier1 - - 115 0 0.00 67 35 34.31 PSTPIP1 0 genome.wustl.edu 37 15 77310844 77310844 + Missense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 15 77310844 77310844 C T SNP PSTPIP1 ENST00000559785 human ensembl 74_37 +1 known missense c.379 p.R127W 0.999 pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom - no_errors PSTPIP1 HGNC ENSG00000140368 tier1 - - 60 0 0.00 29 12 29.27 PTK2B 0 genome.wustl.edu 37 8 27296648 27296648 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 8 27296648 27296648 G T SNP PTK2B ENST00000346049 human ensembl 74_37 +1 known missense c.1744 p.A582S 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 tier1 - - 82 0 0.00 40 16 28.57 PTPRJ 0 genome.wustl.edu 37 11 48131629 48131630 + Splice_Site DEL GT GT - TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 11 48131629 48131630 GT - DEL PTPRJ ENST00000418331 human ensembl 74_37 +1 known splice_site_del c.115+1_115+1 e2+1 0.988:0.998 - - - no_errors PTPRJ HGNC ENSG00000149177 tier1 19 0 0.00 18 11 37.93 PXDNL 0 genome.wustl.edu 37 8 52359587 52359587 + Missense_Mutation SNP A A T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 8 52359587 52359587 A T SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.1502 p.V501E 0.907 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 54 0 0.00 38 2 5.00 RAB11B-AS1 0 genome.wustl.edu 37 19 8455255 8455255 + RNA SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 19 8455255 8455255 G T SNP RAB11B-AS1 ENST00000593581 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RAB11B-AS1 HGNC ENSG00000269386 tier1 - - 102 0 0.00 66 28 29.79 REEP6 0 genome.wustl.edu 37 19 1496413 1496413 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 19 1496413 1496413 G T SNP REEP6 ENST00000233596 human ensembl 74_37 +1 known missense c.478 p.G160W 0.001 NULL pfam_TB2_DP1_HVA22 - no_errors REEP6 HGNC ENSG00000115255 84 0 0.00 72 4 5.19 RFPL3 0 genome.wustl.edu 37 22 32756307 32756307 + Nonsense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 22 32756307 32756307 C T SNP RFPL3 ENST00000249007 human ensembl 74_37 +1 known nonsense c.442 p.R148* 0.129 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL3 HGNC ENSG00000128276 tier1 - - 139 0 0.00 64 52 44.83 RGPD3 0 genome.wustl.edu 37 2 107074073 107074073 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 2 107074073 107074073 G A SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known missense c.202 p.L68F 1.000 pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 tier1 - - 164 0 0.00 103 32 23.70 RNF213 0 genome.wustl.edu 37 17 78298996 78298996 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 17 78298996 78298996 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.3191 p.C1064Y 0.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 48 0 0.00 37 2 5.13 ROS1 0 genome.wustl.edu 37 6 117704507 117704507 + Missense_Mutation SNP C C A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 6 117704507 117704507 C A SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known missense c.2469 p.Q823H 0.979 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 tier1 - - 55 0 0.00 21 21 50.00 ROS1 0 genome.wustl.edu 37 6 117708161 117708161 + Silent SNP A A G TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 6 117708161 117708161 A G SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known silent c.2016 p.A672 0.422 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 tier1 - - 84 0 0.00 82 5 5.75 RP1L1 0 genome.wustl.edu 37 8 10466572 10466572 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 8 10466572 10466572 G T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.5036 p.T1679N 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 103 0 0.00 83 5 5.68 S1PR5 0 genome.wustl.edu 37 19 10624599 10624599 + Silent SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 19 10624599 10624599 C T SNP S1PR5 ENST00000333430 human ensembl 74_37 -1 known silent c.1089 p.S363 0.053 prints_EDG8_S1P_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG8_S1P_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn - no_errors S1PR5 HGNC ENSG00000180739 tier1 - - 12 0 0.00 6 12 66.67 SALL3 0 genome.wustl.edu 37 18 76753906 76753906 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 18 76753906 76753906 G A SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.1915 p.V639I 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 tier1 - - 13 0 0.00 14 8 36.36 SCAF1 0 genome.wustl.edu 37 19 50156668 50156668 + Missense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 19 50156668 50156668 C T SNP SCAF1 ENST00000360565 human ensembl 74_37 +1 known missense c.3022 p.P1008S 0.959 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 tier1 - - 68 0 0.00 61 4 6.15 SEMG1 0 genome.wustl.edu 37 20 43836817 43836817 + Silent SNP A A G TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 20 43836817 43836817 A G SNP SEMG1 ENST00000372781 human ensembl 74_37 +1 known silent c.879 p.T293 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG1 HGNC ENSG00000124233 68 0 0.00 56 3 5.08 SEPT8 0 genome.wustl.edu 37 5 132096579 132096579 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 5 132096579 132096579 G A SNP SEPT8 ENST00000378719 human ensembl 74_37 -1 known missense c.1201 p.R401W 1.000 pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT8 HGNC ENSG00000164402 tier1 - - 53 0 0.00 34 19 35.85 SESN2 0 genome.wustl.edu 37 1 28598185 28598185 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 1 28598185 28598185 G T SNP SESN2 ENST00000253063 human ensembl 74_37 +1 known missense c.157 p.V53F 1.000 pfam_PA26 pfam_PA26 - no_errors SESN2 HGNC ENSG00000130766 tier1 - - 65 0 0.00 46 4 8.00 SETD2 0 genome.wustl.edu 37 3 47162096 47162096 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 3 47162096 47162096 G T SNP SETD2 ENST00000409792 human ensembl 74_37 -1 known missense c.4030 p.Q1344K 0.070 NULL pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 tier1 - - 50 0 0.00 46 4 8.00 SH3RF2 0 genome.wustl.edu 37 5 145442018 145442018 + Silent SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 5 145442018 145442018 C T SNP SH3RF2 ENST00000359120 human ensembl 74_37 +1 known silent c.1944 p.Y648 1.000 NULL pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain - no_errors SH3RF2 HGNC ENSG00000156463 52 0 0.00 48 3 5.88 SHCBP1 0 genome.wustl.edu 37 16 46617507 46617507 + Silent SNP A A G TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 16 46617507 46617507 A G SNP SHCBP1 ENST00000303383 human ensembl 74_37 -1 known silent c.1614 p.N538 1.000 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 - no_errors SHCBP1 HGNC ENSG00000171241 tier1 - - 112 0 0.00 96 9 8.57 SKI 0 genome.wustl.edu 37 1 2160969 2160969 + Missense_Mutation SNP C C G TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 1 2160969 2160969 C G SNP SKI ENST00000378536 human ensembl 74_37 +1 known missense c.764 p.P255R 1.000 pfam_c-SKI_SMAD4-bd_dom,superfamily_SAND_dom-like pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKI HGNC ENSG00000157933 148 0 0.00 76 4 5.00 SLC24A5 0 genome.wustl.edu 37 15 48426713 48426713 + Missense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 15 48426713 48426713 C T SNP SLC24A5 ENST00000341459 human ensembl 74_37 +1 known missense c.467 p.A156V 1.000 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A5 HGNC ENSG00000188467 tier1 - - 49 0 0.00 21 25 54.35 SLC52A2 0 genome.wustl.edu 37 8 145583536 145583536 + Silent SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 8 145583536 145583536 G T SNP SLC52A2 ENST00000329994 human ensembl 74_37 +1 known silent c.384 p.S128 0.993 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A2 HGNC ENSG00000185803 26 0 0.00 22 4 15.38 SLIT2 0 genome.wustl.edu 37 4 20525670 20525670 + Silent SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 4 20525670 20525670 C T SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known silent c.1308 p.C436 1.000 smart_Cys-rich_flank_reg_C pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 61 0 0.00 38 2 5.00 SMC2 0 genome.wustl.edu 37 9 106864708 106864708 + Missense_Mutation SNP A A C TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 9 106864708 106864708 A C SNP SMC2 ENST00000286398 human ensembl 74_37 +1 known missense c.874 p.T292P 0.999 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 tier1 - - 80 0 0.00 62 49 44.14 SNRNP200 0 genome.wustl.edu 37 2 96944361 96944361 + Silent SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 2 96944361 96944361 G A SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known silent c.5412 p.I1804 0.052 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 tier1 rs142524062 - 38 0 0.00 21 8 27.59 SPAST 0 genome.wustl.edu 37 2 32312627 32312627 + Missense_Mutation SNP C C A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 2 32312627 32312627 C A SNP SPAST ENST00000315285 human ensembl 74_37 +1 known missense c.482 p.A161D 0.998 pfam_MIT,smart_MIT,pirsf_Spastin pfam_ATPase_AAA_core,pfam_MIT,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase,pirsf_Spastin - no_errors SPAST HGNC ENSG00000021574 tier1 - - 86 0 0.00 73 4 5.19 SPEN 0 genome.wustl.edu 37 1 16257159 16257159 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 1 16257159 16257159 G T SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.4424 p.R1475L 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 98 0 0.00 70 4 5.41 STAG1 0 genome.wustl.edu 37 3 136141419 136141419 + Missense_Mutation SNP C C A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 3 136141419 136141419 C A SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known missense c.1870 p.V624L 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 tier1 - - 44 0 0.00 34 44 56.41 STARD9 0 genome.wustl.edu 37 15 42958001 42958001 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 15 42958001 42958001 G T SNP STARD9 ENST00000290607 human ensembl 74_37 +1 known missense c.1272 p.L424F 0.000 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 tier1 - - 81 0 0.00 66 4 5.71 STARD9 0 genome.wustl.edu 37 15 42984297 42984297 + Missense_Mutation SNP T T G TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 15 42984297 42984297 T G SNP STARD9 ENST00000290607 human ensembl 74_37 +1 known missense c.10521 p.N3507K 0.000 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 tier1 - - 65 0 0.00 34 25 42.37 SUCLA2 0 genome.wustl.edu 37 13 48562564 48562564 + RNA SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 13 48562564 48562564 G A SNP SUCLA2 ENST00000470760 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SUCLA2 HGNC ENSG00000136143 tier1 - - 22 0 0.00 13 8 38.10 SYNE1 0 genome.wustl.edu 37 6 152552555 152552555 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 6 152552555 152552555 G T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.21010 p.Q7004K 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 65 0 0.00 72 4 5.26 SYTL3 0 genome.wustl.edu 37 6 159146542 159146542 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 6 159146542 159146542 G T SNP SYTL3 ENST00000297239 human ensembl 74_37 +1 known missense c.728 p.S243I 0.001 NULL pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL3 HGNC ENSG00000164674 tier1 - - 75 0 0.00 33 4 10.81 TANK 0 genome.wustl.edu 37 2 162059994 162059994 + Splice_Site SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 2 162059994 162059994 G A SNP TANK ENST00000402568 human ensembl 74_37 +1 putative splice_site c.274-1 e3-1 1.000 - - - no_errors TANK HGNC ENSG00000136560 tier1 - - 58 0 0.00 66 4 5.71 TAX1BP1 0 genome.wustl.edu 37 7 27872346 27872346 + RNA SNP C C A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 7 27872346 27872346 C A SNP TAX1BP1 ENST00000460059 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors TAX1BP1 HGNC ENSG00000106052 tier1 - - 42 0 0.00 36 4 10.00 TBC1D22A 0 genome.wustl.edu 37 22 47193449 47193449 + Missense_Mutation SNP T T C TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 22 47193449 47193449 T C SNP TBC1D22A ENST00000337137 human ensembl 74_37 +1 known missense c.569 p.L190P 0.322 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22A HGNC ENSG00000054611 42 0 0.00 29 3 9.38 TBL1X 0 genome.wustl.edu 37 X 9665428 9665428 + Missense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 X 9665428 9665428 C T SNP TBL1X ENST00000217964 human ensembl 74_37 +1 known missense c.1073 p.A358V 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1X HGNC ENSG00000101849 tier1 - - 143 0 0.00 67 4 5.63 TENM3 0 genome.wustl.edu 37 4 183714437 183714437 + Silent SNP C C A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 4 183714437 183714437 C A SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known silent c.6612 p.I2204 1.000 superfamily_Cyt_c-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 67 0 0.00 56 3 5.00 TET2 0 genome.wustl.edu 37 4 106197248 106197248 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 4 106197248 106197248 G A SNP TET2 ENST00000380013 human ensembl 74_37 +1 known missense c.5581 p.G1861R 1.000 NULL NULL - no_errors TET2 HGNC ENSG00000168769 tier1 - - 30 0 0.00 7 4 36.36 TEX14 0 genome.wustl.edu 37 17 56676583 56676583 + Nonsense_Mutation SNP G G C TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 17 56676583 56676583 G C SNP TEX14 ENST00000240361 human ensembl 74_37 -1 known nonsense c.2141 p.S714* 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors TEX14 HGNC ENSG00000121101 tier1 - - 39 0 0.00 50 7 12.28 TMEM190 0 genome.wustl.edu 37 19 55889435 55889435 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 19 55889435 55889435 G A SNP TMEM190 ENST00000291934 human ensembl 74_37 +1 known missense c.398 p.R133Q 0.258 NULL superfamily_P_trefoil - no_errors TMEM190 HGNC ENSG00000160472 tier1 - - 129 0 0.00 63 49 43.75 TMEM2 0 genome.wustl.edu 37 9 74319524 74319524 + Missense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 9 74319524 74319524 C T SNP TMEM2 ENST00000377044 human ensembl 74_37 -1 known missense c.3181 p.V1061I 1.000 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC ENSG00000135048 60 0 0.00 51 3 5.56 TMEM202 0 genome.wustl.edu 37 15 72700132 72700132 + Silent SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 15 72700132 72700132 G A SNP TMEM202 ENST00000341689 human ensembl 74_37 +1 known silent c.720 p.P240 0.301 NULL NULL - no_errors TMEM202 HGNC ENSG00000187806 tier1 rs140026568 - 114 0 0.00 73 59 44.70 TNFRSF12A 0 genome.wustl.edu 37 16 3070514 3070514 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 16 3070514 3070514 G T SNP TNFRSF12A ENST00000575124 human ensembl 74_37 +1 putative missense c.116 p.G39V 0.000 NULL NULL - no_errors TNFRSF12A HGNC ENSG00000006327 tier1 - - 111 0 0.00 49 4 7.55 TNPO2 0 genome.wustl.edu 37 19 12822221 12822221 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 19 12822221 12822221 G A SNP TNPO2 ENST00000425528 human ensembl 74_37 -1 known missense c.1006 p.R336C 0.995 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors TNPO2 HGNC ENSG00000105576 62 0 0.00 57 3 5.00 TNRC6C 0 genome.wustl.edu 37 17 76082657 76082657 + Missense_Mutation SNP A A G TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 17 76082657 76082657 A G SNP TNRC6C ENST00000335749 human ensembl 74_37 +1 known missense c.3542 p.Q1181R 1.000 NULL pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 74 0 0.00 66 4 5.71 TOMM7 0 genome.wustl.edu 37 7 22852721 22852721 + Missense_Mutation SNP C C G TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 7 22852721 22852721 C G SNP TOMM7 ENST00000372879 human ensembl 74_37 -1 putative missense c.373 p.G125R 0.751 NULL pfam_Tom7 - no_errors TOMM7 HGNC ENSG00000196683 tier1 - - 58 0 0.00 26 17 39.53 TOP2A 0 genome.wustl.edu 37 17 38546381 38546381 + Missense_Mutation SNP T T C TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 17 38546381 38546381 T C SNP TOP2A ENST00000423485 human ensembl 74_37 -1 known missense c.4303 p.R1435G 0.997 pfam_DTHCT pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2A HGNC ENSG00000131747 tier1 - - 104 0 0.00 88 5 5.26 TP53 0 genome.wustl.edu 37 17 7578407 7578407 + Missense_Mutation SNP G G C TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 17 7578407 7578407 G C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.523 p.R175G 0.997 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 tier1 rs138729528 - 45 0 0.00 25 14 35.90 TP53 0 genome.wustl.edu 37 17 7579359 7579359 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 17 7579359 7579359 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.328 p.R110C 0.028 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 tier1 - - 153 0 0.00 82 93 53.14 TRIM67 0 genome.wustl.edu 37 1 231344888 231344888 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 1 231344888 231344888 G A SNP TRIM67 ENST00000366652 human ensembl 74_37 +1 known missense c.2015 p.R672K 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,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 - no_errors TRIM67 HGNC ENSG00000119283 35 0 0.00 54 3 5.26 TRMT6 0 genome.wustl.edu 37 20 5922605 5922605 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 20 5922605 5922605 G T SNP TRMT6 ENST00000203001 human ensembl 74_37 -1 known missense c.1104 p.N368K 0.417 pirsf_tRNA_m1A_mtfrase pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase - no_errors TRMT6 HGNC ENSG00000089195 tier1 - - 32 0 0.00 44 4 8.33 TRMU 0 genome.wustl.edu 37 22 46748166 46748166 + Silent SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 22 46748166 46748166 G A SNP TRMU ENST00000290846 human ensembl 74_37 +1 known silent c.711 p.L237 0.999 pfam_tRNA-specific_2-thiouridylase,tigrfam_tRNA-specific_2-thiouridylase pfam_tRNA-specific_2-thiouridylase,pfam_ThiI_C_dom,pfam_NAD/GMP_synthase,tigrfam_tRNA-specific_2-thiouridylase - no_errors TRMU HGNC ENSG00000100416 46 0 0.00 43 4 8.51 TTN 0 genome.wustl.edu 37 2 179664274 179664274 + Missense_Mutation SNP G G C TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 2 179664274 179664274 G C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.854 p.P285R 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 42 0 0.00 52 4 7.14 TUG1 0 genome.wustl.edu 37 22 31367278 31367279 + RNA INS - - A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 22 31367278 31367279 0 A INS TUG1 ENST00000519077 human ensembl 74_37 +1 known rna NULL NULL 0.906:0.666 - - - no_errors TUG1 HGNC ENSG00000253352 13 0 0.00 4 2 33.33 UBE3D 0 genome.wustl.edu 37 6 83732246 83732246 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 6 83732246 83732246 G T SNP UBE3D ENST00000369747 human ensembl 74_37 -1 known missense c.772 p.L258M 0.996 pfam_UBQ-conj_enz_E2-bd_prot pfam_UBQ-conj_enz_E2-bd_prot - no_errors UBE3D HGNC ENSG00000118420 tier1 - - 75 0 0.00 73 4 5.19 UBIAD1 0 genome.wustl.edu 37 1 11345718 11345718 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 1 11345718 11345718 G T SNP UBIAD1 ENST00000376810 human ensembl 74_37 +1 known missense c.547 p.V183L 0.998 pfam_UbiA_prenyltransferase pfam_UbiA_prenyltransferase - no_errors UBIAD1 HGNC ENSG00000120942 67 0 0.00 36 2 5.26 USP7 0 genome.wustl.edu 37 16 8998324 8998324 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 16 8998324 8998324 G T SNP USP7 ENST00000542333 human ensembl 74_37 -1 known missense c.1457 p.A486E 1.000 NULL pfam_Peptidase_C19/C67,pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67 - no_errors USP7 HGNC ENSG00000187555 tier1 - - 54 0 0.00 38 4 9.30 VANGL2 0 genome.wustl.edu 37 1 160390311 160390311 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 1 160390311 160390311 G A SNP VANGL2 ENST00000368061 human ensembl 74_37 +1 known missense c.911 p.G304D 1.000 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 tier1 - - 99 0 0.00 55 87 61.27 VCL 0 genome.wustl.edu 37 10 75860775 75860775 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 10 75860775 75860775 G A SNP VCL ENST00000211998 human ensembl 74_37 +1 known missense c.1942 p.A648T 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 tier1 - - 65 0 0.00 71 4 5.33 VCP 0 genome.wustl.edu 37 9 35059646 35059647 + Frame_Shift_Ins INS - - T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 9 35059646 35059647 - T INS VCP ENST00000358901 human ensembl 74_37 -1 known frame_shift_ins c.1848_1847 p.N616fs 1.000:1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 - no_errors VCP HGNC ENSG00000165280 tier1 44 0 0.00 48 7 12.73 VPS36 0 genome.wustl.edu 37 13 52999941 52999942 + RNA INS - - A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 13 52999941 52999942 - A INS VPS36 ENST00000492650 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.001 - - - no_errors VPS36 HGNC ENSG00000136100 tier1 35 0 0.00 34 4 10.53 VPS37C 0 genome.wustl.edu 37 11 60899316 60899316 + Silent SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 11 60899316 60899316 C T SNP VPS37C ENST00000301765 human ensembl 74_37 -1 known silent c.1044 p.P348 0.572 NULL pfam_Mod_r - no_errors VPS37C HGNC ENSG00000167987 tier1 - - 78 0 0.00 75 4 5.06 VPS53 0 genome.wustl.edu 37 17 465823 465823 + Missense_Mutation SNP C C A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 17 465823 465823 C A SNP VPS53 ENST00000437048 human ensembl 74_37 -1 known missense c.1476 p.E492D 1.000 NULL pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS53 HGNC ENSG00000141252 68 0 0.00 82 5 5.75 VPS9D1 0 genome.wustl.edu 37 16 89776294 89776294 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 16 89776294 89776294 G T SNP VPS9D1 ENST00000389386 human ensembl 74_37 -1 known missense c.1279 p.L427I 0.999 NULL pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 - no_errors VPS9D1 HGNC ENSG00000075399 tier1 - - 109 0 0.00 73 4 5.13 WASL 0 genome.wustl.edu 37 7 123388731 123388731 + Missense_Mutation SNP G G C TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 7 123388731 123388731 G C SNP WASL ENST00000223023 human ensembl 74_37 -1 known missense c.58 p.L20V 0.992 NULL pfam_WH1/EVH1,pfam_CRIB_dom,pfam_WH2_dom,superfamily_WASP_C,smart_WH1/EVH1,smart_CRIB_dom,smart_WH2_dom,pfscan_CRIB_dom,pfscan_WH1/EVH1,pfscan_WH2_dom - no_errors WASL HGNC ENSG00000106299 tier1 - - 244 0 0.00 194 22 10.19 ZBTB17 0 genome.wustl.edu 37 1 16274893 16274893 + Missense_Mutation SNP A A G TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 1 16274893 16274893 A G SNP ZBTB17 ENST00000375733 human ensembl 74_37 -1 known missense c.98 p.V33A 0.776 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_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 ZBTB17 HGNC ENSG00000116809 tier1 - - 55 0 0.00 27 4 12.90 ZEB1 0 genome.wustl.edu 37 10 31799649 31799649 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 10 31799649 31799649 G T SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known missense c.533 p.R178I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 tier1 - - 52 0 0.00 35 4 10.26 ZMAT1 0 genome.wustl.edu 37 X 101153104 101153104 + Silent SNP A A G TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 X 101153104 101153104 A G SNP ZMAT1 ENST00000372782 human ensembl 74_37 -1 known silent c.318 p.V106 0.001 NULL superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 tier1 - - 133 0 0.00 70 4 5.41 ZMYM6 0 genome.wustl.edu 37 1 35457931 35457931 + Missense_Mutation SNP T T C TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 1 35457931 35457931 T C SNP ZMYM6 ENST00000357182 human ensembl 74_37 -1 known missense c.2050 p.R684G 0.193 NULL pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 tier1 - - 98 0 0.00 69 4 5.48 ZNF280D 0 genome.wustl.edu 37 15 56959058 56959058 + Missense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 15 56959058 56959058 C T SNP ZNF280D ENST00000267807 human ensembl 74_37 -1 known missense c.1672 p.A558T 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280D HGNC ENSG00000137871 tier1 - - 68 0 0.00 60 4 6.25 ZNF335 0 genome.wustl.edu 37 20 44590785 44590785 + Missense_Mutation SNP T T C TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 20 44590785 44590785 T C SNP ZNF335 ENST00000322927 human ensembl 74_37 -1 known missense c.1570 p.K524E 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 tier1 - - 56 0 0.00 35 4 10.26 ZNF45 0 genome.wustl.edu 37 19 44418047 44418047 + Missense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 19 44418047 44418047 C T SNP ZNF45 ENST00000269973 human ensembl 74_37 -1 known missense c.1541 p.S514N 0.002 pfam_Znf_C2H2,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 ZNF45 HGNC ENSG00000124459 tier1 - - 87 0 0.00 74 4 5.13 ZNF527 0 genome.wustl.edu 37 19 37861967 37861967 + RNA SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 19 37861967 37861967 G T SNP ZNF527 ENST00000589615 human ensembl 74_37 +1 known rna NULL NULL 0.394 - - - no_errors ZNF527 HGNC ENSG00000189164 tier1 - - 61 0 0.00 50 4 7.41 ZNF582 0 genome.wustl.edu 37 19 56895939 56895939 + Missense_Mutation SNP A A G TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 19 56895939 56895939 A G SNP ZNF582 ENST00000301310 human ensembl 74_37 -1 known missense c.847 p.Y283H 0.029 pfam_Znf_C2H2,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 ZNF582 HGNC ENSG00000018869 tier1 - - 88 0 0.00 65 4 5.80 ZNF626 0 genome.wustl.edu 37 19 20807456 20807456 + Silent SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 19 20807456 20807456 G A SNP ZNF626 ENST00000601440 human ensembl 74_37 -1 known silent c.1227 p.S409 0.000 pfam_Znf_C2H2,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 ZNF626 HGNC ENSG00000188171 tier1 - - 60 0 0.00 73 4 5.19 ZNF699 0 genome.wustl.edu 37 19 9407537 9407537 + Silent SNP T T A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 19 9407537 9407537 T A SNP ZNF699 ENST00000308650 human ensembl 74_37 -1 known silent c.543 p.P181 0.018 NULL 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 ZNF699 HGNC ENSG00000196110 58 0 0.00 66 4 5.71 ZNF717 0 genome.wustl.edu 37 3 75790939 75790940 + RNA INS - - T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 3 75790939 75790940 - T INS ZNF717 ENST00000491507 human ensembl 74_37 -1 known rna NULL NULL 0.781:0.693 - - - no_errors ZNF717 HGNC ENSG00000227124 tier1 20 0 0.00 1 3 75.00 ZNF784 0 genome.wustl.edu 37 19 56133668 56133668 + Missense_Mutation SNP A A T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 19 56133668 56133668 A T SNP ZNF784 ENST00000325351 human ensembl 74_37 -1 known missense c.421 p.L141M 0.984 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF784 HGNC ENSG00000179922 tier1 - - 16 0 0.00 7 4 36.36 ZNF805 0 genome.wustl.edu 37 19 57765566 57765566 + Missense_Mutation SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 19 57765566 57765566 G T SNP ZNF805 ENST00000414468 human ensembl 74_37 +1 known missense c.1379 p.C460F 1.000 pfam_Znf_C2H2,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 ZNF805 HGNC ENSG00000204524 103 0 0.00 91 5 5.21 ZSWIM6 0 genome.wustl.edu 37 5 60839571 60839571 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780573c9-1514-4b9c-b31f-c0c0df3b7b45 247edf65-6355-4962-9ea6-79b9a0d04711 5 60839571 60839571 G A SNP ZSWIM6 ENST00000252744 human ensembl 74_37 +1 novel missense c.3075 p.M1025I 1.000 NULL pfscan_Znf_SWIM,prints_Antifreeze_1 - no_errors ZSWIM6 HGNC ENSG00000130449 tier1 - - 34 0 0.00 30 4 11.76