Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABCA4 0 genome.wustl.edu 37 1 94510272 94510272 + Missense_Mutation SNP T T A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 1 94510272 94510272 T A SNP ABCA4 ENST00000370225 human ensembl 69_37n -1 known missense c.2947 p.T983S 0.998 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 166 1 0.60 74 46 38.33 - - - ACCSL 0 genome.wustl.edu 37 11 44069730 44069730 + Silent SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 11 44069730 44069730 G A SNP ACCSL ENST00000378832 human ensembl 69_37n +1 known silent c.144 p.T48 0.000 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_ACC_synthase - no_errors ACCSL HGNC ENSG00000205126 33 0 0.00 36 10 21.74 - - - ADAMTS2 0 genome.wustl.edu 37 5 178552015 178552015 + Missense_Mutation SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 5 178552015 178552015 C T SNP ADAMTS2 ENST00000251582 human ensembl 69_37n -1 known missense c.2917 p.E973K 0.294 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS2 HGNC ENSG00000087116 26 0 0.00 31 27 46.55 - - - ADD1 0 genome.wustl.edu 37 4 2906605 2906605 + Missense_Mutation SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 4 2906605 2906605 G A SNP ADD1 ENST00000264758 human ensembl 69_37n +1 known missense c.1276 p.D426N 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD1 HGNC ENSG00000087274 119 0 0.00 100 35 25.93 - - - AFF4 0 genome.wustl.edu 37 5 132270412 132270412 + Silent SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 5 132270412 132270412 G A SNP AFF4 ENST00000265343 human ensembl 69_37n -1 known silent c.345 p.P115 0.792 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 234 0 0.00 218 179 44.97 - - - AGPAT6 0 genome.wustl.edu 37 8 41471927 41471927 + Missense_Mutation SNP A A G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 8 41471927 41471927 A G SNP AGPAT6 ENST00000396987 human ensembl 69_37n +1 known missense c.934 p.K312E 1.000 pfam_Acyltransferase,smart_Acyltransferase pfam_Acyltransferase,smart_Acyltransferase - no_errors AGPAT6 HGNC ENSG00000158669 97 0 0.00 55 37 40.22 - - - APOB 0 genome.wustl.edu 37 2 21247970 21247970 + Silent SNP A A G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 2 21247970 21247970 A G SNP APOB ENST00000233242 human ensembl 69_37n -1 known silent c.2271 p.S757 0.000 pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 99 0 0.00 99 29 22.66 - - - ARG1 0 genome.wustl.edu 37 6 131903781 131903781 + Missense_Mutation SNP C C G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 6 131903781 131903781 C G SNP ARG1 ENST00000356962 human ensembl 69_37n +1 known missense c.510 p.F170L 1.000 pfam_Ureohydrolase,tigrfam_Arginase pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase - no_errors ARG1 HGNC ENSG00000118520 198 0 0.00 125 55 30.56 - - - ARHGAP24 0 genome.wustl.edu 37 4 86916664 86916664 + Silent SNP A A T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 4 86916664 86916664 A T SNP ARHGAP24 ENST00000395184 human ensembl 69_37n +1 known silent c.1857 p.R619 0.785 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 91 0 0.00 57 24 29.63 - - - ARHGEF10 0 genome.wustl.edu 37 8 1844604 1844604 + Missense_Mutation SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 8 1844604 1844604 G C SNP ARHGEF10 ENST00000398564 human ensembl 69_37n +1 known missense c.1621 p.E541Q 0.989 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 148 0 0.00 89 47 34.56 - - - ATG5 0 genome.wustl.edu 37 6 106740932 106740932 + Missense_Mutation SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 6 106740932 106740932 G C SNP ATG5 ENST00000343245 human ensembl 69_37n -1 known missense c.286 p.L96V 1.000 pfam_Autophagy-rel_prot_5 pfam_Autophagy-rel_prot_5 - no_errors ATG5 HGNC ENSG00000057663 143 0 0.00 100 46 31.51 - - - ATP2B1 0 genome.wustl.edu 37 12 90028579 90028579 + Missense_Mutation SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 12 90028579 90028579 C T SNP ATP2B1 ENST00000261173 human ensembl 69_37n -1 known missense c.763 p.D255N 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B1 HGNC ENSG00000070961 64 0 0.00 44 19 30.16 - - - ATP6V0A2 0 genome.wustl.edu 37 12 124218479 124218479 + Missense_Mutation SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 12 124218479 124218479 G C SNP ATP6V0A2 ENST00000330342 human ensembl 69_37n +1 known missense c.655 p.V219L 1.000 pfam_ATPase_V0/A0_a pfam_ATPase_V0/A0_a - no_errors ATP6V0A2 HGNC ENSG00000185344 248 1 0.40 210 66 23.91 - - - BROX 0 genome.wustl.edu 37 1 222892339 222892339 + Silent SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 1 222892339 222892339 G A SNP BROX ENST00000340934 human ensembl 69_37n +1 known silent c.174 p.K58 1.000 NULL pfam_BRO1_dom,pfscan_BRO1_dom - no_errors BROX HGNC ENSG00000162819 214 0 0.00 248 66 21.02 - - - C10orf12 0 genome.wustl.edu 37 10 98742128 98742128 + Silent SNP A A C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 10 98742128 98742128 A C SNP C10orf12 ENST00000286067 human ensembl 69_37n +1 known silent c.981 p.S327 0.000 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 73 0 0.00 56 28 33.33 - - - C3 0 genome.wustl.edu 37 19 6712586 6712586 + Missense_Mutation SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 19 6712586 6712586 G A SNP C3 ENST00000245907 human ensembl 69_37n -1 known missense c.1052 p.S351F 1.000 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C3 HGNC ENSG00000125730 325 0 0.00 196 78 28.47 - - - C5orf65 0 genome.wustl.edu 37 5 138728026 138728026 + Silent SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 5 138728026 138728026 C T SNP C5orf65 ENST00000434752 human ensembl 69_37n -1 known silent c.2745 p.E915 0.998 NULL NULL - no_errors C5orf65 HGNC ENSG00000228672 11 0 0.00 7 5 41.67 - - - CACNA1C 0 genome.wustl.edu 37 12 2622018 2622018 + Missense_Mutation SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 12 2622018 2622018 G C SNP CACNA1C ENST00000399634 human ensembl 69_37n +1 known missense c.1258 p.D420H 1.000 prints_VDCCAlpha1,prints_VDCC_L_a1su pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 79 0 0.00 42 9 17.65 - - - CACNA1D 0 genome.wustl.edu 37 3 53757826 53757826 + Missense_Mutation SNP A A G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 3 53757826 53757826 A G SNP CACNA1D ENST00000288139 human ensembl 69_37n +1 known missense c.1960 p.T654A 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 216 0 0.00 183 72 28.24 - - - CACNG4 0 genome.wustl.edu 37 17 65026894 65026894 + Missense_Mutation SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 17 65026894 65026894 C T SNP CACNG4 ENST00000262138 human ensembl 69_37n +1 known missense c.758 p.S253L 1.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g4su,prints_VDCC_gsu,prints_Claudin - no_errors CACNG4 HGNC ENSG00000075461 37 0 0.00 43 11 20.37 - - - CATSPERD 0 genome.wustl.edu 37 19 5724831 5724831 + Silent SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 19 5724831 5724831 G A SNP CATSPERD ENST00000381624 human ensembl 69_37n +1 known silent c.84 p.V28 0.991 NULL superfamily_WD40_repeat_dom - no_errors CATSPERD HGNC ENSG00000174898 225 0 0.00 146 54 27.00 - - - CDH1 0 genome.wustl.edu 37 16 68772203 68772204 + Frame_Shift_Ins INS - - CA TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 16 68772203 68772204 - CA INS CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_ins c.52_53 p.S19fs 0.327:0.321 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 50 0 0.00 12 9 42.86 - - - CHST2 0 genome.wustl.edu 37 3 142840752 142840752 + Missense_Mutation SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 3 142840752 142840752 G A SNP CHST2 ENST00000309575 human ensembl 69_37n +1 known missense c.1094 p.R365H 1.000 pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST2 HGNC ENSG00000175040 12 0 0.00 8 5 38.46 - - - CMYA5 0 genome.wustl.edu 37 5 79095305 79095305 + Missense_Mutation SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 5 79095305 79095305 G C SNP CMYA5 ENST00000446378 human ensembl 69_37n +1 known missense c.12076 p.E4026Q 0.005 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 192 0 0.00 129 57 30.65 - - - CTCFL 0 genome.wustl.edu 37 20 56094287 56094287 + Missense_Mutation SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 20 56094287 56094287 G A SNP CTCFL ENST00000423479 human ensembl 69_37n -1 known missense c.901 p.R301W 0.969 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCFL HGNC ENSG00000124092 134 0 0.00 93 25 21.19 - - - CWH43 0 genome.wustl.edu 37 4 49030703 49030703 + Missense_Mutation SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 4 49030703 49030703 G A SNP CWH43 ENST00000226432 human ensembl 69_37n +1 known missense c.1324 p.E442K 1.000 NULL superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 152 0 0.00 98 41 29.50 - - - DDX3X 0 genome.wustl.edu 37 X 41202029 41202029 + Silent SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 X 41202029 41202029 G A SNP DDX3X ENST00000399959 human ensembl 69_37n +1 known silent c.483 p.E161 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 207 0 0.00 119 60 33.52 - - - DMRT1 0 genome.wustl.edu 37 9 847104 847104 + Nonsense_Mutation SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 9 847104 847104 C T SNP DMRT1 ENST00000382276 human ensembl 69_37n +1 known nonsense c.499 p.Q167* 0.783 pfam_TF_doublesex/Mab3-rel pfam_DM_DNA-bd,pfam_TF_doublesex/Mab3-rel,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT1 HGNC ENSG00000137090 30 0 0.00 32 23 41.82 - - - DNAH5 0 genome.wustl.edu 37 5 13752344 13752344 + Missense_Mutation SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 5 13752344 13752344 G C SNP DNAH5 ENST00000265104 human ensembl 69_37n -1 known missense c.10927 p.L3643V 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 204 0 0.00 175 75 30.00 - - - DNAH6 0 genome.wustl.edu 37 2 84777043 84777043 + Missense_Mutation SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 2 84777043 84777043 G C SNP DNAH6 ENST00000237449 human ensembl 69_37n +1 known missense c.1347 p.E449D 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 116 0 0.00 75 30 28.57 - - - EIF2C2 0 genome.wustl.edu 37 8 141570514 141570514 + Missense_Mutation SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 8 141570514 141570514 G A SNP EIF2C2 ENST00000220592 human ensembl 69_37n -1 known missense c.614 p.S205F 1.000 pfam_DUF1785,superfamily_PAZ pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C2 HGNC ENSG00000123908 71 0 0.00 45 14 23.73 - - - EMR2 0 genome.wustl.edu 37 19 14884796 14884796 + Missense_Mutation SNP G G T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 19 14884796 14884796 G T SNP EMR2 ENST00000315576 human ensembl 69_37n -1 known missense c.153 p.F51L 0.444 smart_EGF-like pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EGF-like_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors EMR2 HGNC ENSG00000127507 192 0 0.00 123 56 31.28 - - - ENSG00000183470 0 genome.wustl.edu 37 7 132412276 132412276 + Missense_Mutation SNP C C G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 7 132412276 132412276 C G SNP ENSG00000183470 ENST00000332558 human ensembl 69_37n +1 putative missense c.128 p.S43C 0.890 NULL NULL - no_errors AC009365.3 Clone_based_vega_gene ENSG00000183470 122 0 0.00 100 40 28.57 - - - ENSG00000210194 0 genome.wustl.edu 37 MT 14709 14709 + RNA SNP T T C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 MT 14709 14709 T C SNP ENSG00000210194 ENST00000387459 human ensembl 69_37n -1 known rna NULL NULL NULL - - - no_errors J01415.21 Clone_based_ensembl_gene ENSG00000210194 530 1 0.19 155 380 70.90 - - - ENSG00000265489 0 genome.wustl.edu 37 17 12663849 12663850 + RNA INS - - A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 17 12663849 12663850 - A INS ENSG00000265489 ENST00000584772 human ensembl 69_37n -1 known rna NULL NULL 0.002:0.001 - - - no_errors RP11-1090M7.1 Clone_based_vega_gene ENSG00000265489 43 0 0.00 22 3 12.00 - - - EYS 0 genome.wustl.edu 37 6 65301057 65301057 + Missense_Mutation SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 6 65301057 65301057 C T SNP EYS ENST00000370616 human ensembl 69_37n -1 known missense c.4703 p.R1568H 1.000 NULL pfam_Laminin_G,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 29 0 0.00 31 6 16.22 - - - FAM123B 0 genome.wustl.edu 37 X 63409936 63409936 + Silent SNP A A G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 X 63409936 63409936 A G SNP FAM123B ENST00000330258 human ensembl 69_37n -1 known silent c.3231 p.P1077 1.000 NULL pfam_Uncharacterised_FAM123 - no_errors FAM123B HGNC ENSG00000184675 34 0 0.00 33 14 29.79 - - - FAM188A 0 genome.wustl.edu 37 10 15858876 15858876 + Nonsense_Mutation SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 10 15858876 15858876 C T SNP FAM188A ENST00000277632 human ensembl 69_37n -1 known nonsense c.840 p.W280* 1.000 NULL NULL - no_errors FAM188A HGNC ENSG00000148481 111 0 0.00 75 23 23.23 - - - FAM60A 0 genome.wustl.edu 37 12 31451107 31451107 + Missense_Mutation SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 12 31451107 31451107 C T SNP FAM60A ENST00000337682 human ensembl 69_37n -1 known missense c.32 p.R11Q 1.000 NULL NULL - no_errors FAM60A HGNC ENSG00000139146 97 0 0.00 60 34 36.17 - - - FKBP10 0 genome.wustl.edu 37 17 39977965 39977965 + Missense_Mutation SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 17 39977965 39977965 G A SNP FKBP10 ENST00000321562 human ensembl 69_37n +1 known missense c.1459 p.D487N 1.000 NULL pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 213 0 0.00 563 74 11.62 - - - FLII 0 genome.wustl.edu 37 17 18157406 18157406 + Silent SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 17 18157406 18157406 C T SNP FLII ENST00000327031 human ensembl 69_37n -1 known silent c.666 p.L222 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Gelsolin,prints_Gelsolin - no_errors FLII HGNC ENSG00000177731 34 0 0.00 39 40 50.63 - - - FOXA1 0 genome.wustl.edu 37 14 38061250 38061250 + Missense_Mutation SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 14 38061250 38061250 G A SNP FOXA1 ENST00000250448 human ensembl 69_37n -1 known missense c.739 p.H247Y 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA1 HGNC ENSG00000129514 54 0 0.00 19 10 34.48 - - - FSTL5 0 genome.wustl.edu 37 4 163032438 163032438 + Missense_Mutation SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 4 163032438 163032438 C T SNP FSTL5 ENST00000306100 human ensembl 69_37n -1 known missense c.111 p.M37I 0.167 NULL pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like - no_errors FSTL5 HGNC ENSG00000168843 146 0 0.00 79 43 35.25 - - - GDF9 0 genome.wustl.edu 37 5 132197896 132197896 + Missense_Mutation SNP C C G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 5 132197896 132197896 C G SNP GDF9 ENST00000296875 human ensembl 69_37n -1 known missense c.750 p.Q250H 0.000 NULL pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF9 HGNC ENSG00000164404 147 0 0.00 166 56 25.23 - - - GPS2 0 genome.wustl.edu 37 17 7217617 7217617 + Frame_Shift_Del DEL C C - TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 17 7217617 7217617 C - DEL GPS2 ENST00000380728 human ensembl 69_37n -1 known frame_shift_del c.310 p.E104fs 1.000 NULL NULL - no_errors GPS2 HGNC ENSG00000132522 511 0 0.00 169 120 41.24 - - - GRM2 0 genome.wustl.edu 37 3 51743248 51743248 + Silent SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 3 51743248 51743248 C T SNP GRM2 ENST00000395052 human ensembl 69_37n +1 known silent c.249 p.R83 0.998 pfam_ANF_lig-bd_rcpt,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 36 0 0.00 36 20 35.71 - - - HEATR7A 0 genome.wustl.edu 37 8 145255363 145255363 + Silent SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 8 145255363 145255363 C T SNP HEATR7A ENST00000326134 human ensembl 69_37n +1 known silent c.1060 p.L354 0.991 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors HEATR7A HGNC ENSG00000179832 73 0 0.00 62 34 35.42 - - - HPS1 0 genome.wustl.edu 37 10 100191027 100191027 + Missense_Mutation SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 10 100191027 100191027 G A SNP HPS1 ENST00000325103 human ensembl 69_37n -1 known missense c.529 p.P177S 1.000 NULL NULL - no_errors HPS1 HGNC ENSG00000107521 34 0 0.00 18 18 50.00 - - - HRC 0 genome.wustl.edu 37 19 49657744 49657744 + Missense_Mutation SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 19 49657744 49657744 C T SNP HRC ENST00000252825 human ensembl 69_37n -1 known missense c.751 p.D251N 0.685 pfam_Hist_rich_Ca-bd pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 165 0 0.00 126 61 32.45 - - - HRC 0 genome.wustl.edu 37 19 49657822 49657822 + Nonsense_Mutation SNP C C A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 19 49657822 49657822 C A SNP HRC ENST00000252825 human ensembl 69_37n -1 known nonsense c.673 p.E225* 0.972 pfam_Hist_rich_Ca-bd pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 126 0 0.00 123 35 22.15 - - - HSF1 0 genome.wustl.edu 37 8 145537880 145537880 + Missense_Mutation SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 8 145537880 145537880 G A SNP HSF1 ENST00000528838 human ensembl 69_37n +1 known missense c.1477 p.E493K 1.000 pfam_Vert_HS_TF pfam_Vert_HS_TF,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF1 HGNC ENSG00000185122 19 0 0.00 16 6 27.27 - - - IGHV1-45 0 genome.wustl.edu 37 14 106963186 106963186 + Missense_Mutation SNP C C G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 14 106963186 106963186 C G SNP IGHV1-45 ENST00000390621 human ensembl 69_37n -1 known missense c.96 p.K32N 0.293 pfam_Ig_V-set pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV1-45 HGNC ENSG00000211961 217 1 0.46 131 71 35.15 - - - IL3RA 0 genome.wustl.edu 37 X 1497591 1497591 + Missense_Mutation SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 X 1497591 1497591 G A SNP IL3RA ENST00000331035 human ensembl 69_37n +1 known missense c.914 p.R305Q 0.006 NULL pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL3RA HGNC ENSG00000185291 114 0 0.00 117 59 33.52 - - - ITGA10 0 genome.wustl.edu 37 1 145538042 145538042 + Silent SNP C C A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 1 145538042 145538042 C A SNP ITGA10 ENST00000369304 human ensembl 69_37n +1 known silent c.2721 p.V907 0.983 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ENSG00000143127 156 0 0.00 138 40 22.47 - - - KCND2 0 genome.wustl.edu 37 7 120387763 120387763 + Missense_Mutation SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 7 120387763 120387763 G C SNP KCND2 ENST00000331113 human ensembl 69_37n +1 known missense c.1744 p.E582Q 1.000 prints_K_chnl_volt-dep_Kv4.2 pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 133 0 0.00 72 23 24.21 - - - KCNV2 0 genome.wustl.edu 37 9 2729631 2729631 + Silent SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 9 2729631 2729631 G A SNP KCNV2 ENST00000382082 human ensembl 69_37n +1 known silent c.1542 p.E514 0.384 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNV2 HGNC ENSG00000168263 166 0 0.00 97 33 25.38 - - - KIAA0825 0 genome.wustl.edu 37 5 93732078 93732078 + Silent SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 5 93732078 93732078 C T SNP KIAA0825 ENST00000427991 human ensembl 69_37n -1 known silent c.3024 p.L1008 1.000 NULL NULL - no_errors KIAA0825 HGNC ENSG00000185261 40 0 0.00 39 19 32.76 - - - KIF1A 0 genome.wustl.edu 37 2 241712662 241712662 + Missense_Mutation SNP C C A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 2 241712662 241712662 C A SNP KIF1A ENST00000498729 human ensembl 69_37n -1 known missense c.1049 p.R350L 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,prints_Kinesin_motor_dom,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 140 0 0.00 92 33 26.40 - - - KIF5A 0 genome.wustl.edu 37 12 57969055 57969055 + Silent SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 12 57969055 57969055 G A SNP KIF5A ENST00000455537 human ensembl 69_37n +1 known silent c.1905 p.Q635 1.000 NULL pfam_Kinesin_motor_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC ENSG00000155980 63 0 0.00 56 27 32.53 - - - KLHL11 0 genome.wustl.edu 37 17 40021290 40021290 + Missense_Mutation SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 17 40021290 40021290 G A SNP KLHL11 ENST00000319121 human ensembl 69_37n -1 known missense c.334 p.R112C 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL11 HGNC ENSG00000178502 10 0 0.00 43 30 40.54 - - - LAMA2 0 genome.wustl.edu 37 6 129781390 129781390 + Missense_Mutation SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 6 129781390 129781390 G C SNP LAMA2 ENST00000421865 human ensembl 69_37n +1 known missense c.6913 p.E2305Q 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 125 0 0.00 98 42 30.00 - - - LARP7 0 genome.wustl.edu 37 4 113568490 113568490 + Missense_Mutation SNP C C G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 4 113568490 113568490 C G SNP LARP7 ENST00000324052 human ensembl 69_37n +1 known missense c.782 p.S261C 0.998 NULL pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 191 0 0.00 109 54 33.13 - - - LPL 0 genome.wustl.edu 37 8 19818493 19818493 + Silent SNP C C G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 8 19818493 19818493 C G SNP LPL ENST00000311322 human ensembl 69_37n +1 known silent c.1221 p.L407 0.154 pirsf_Lipoprotein_lipase_LIPH,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_Lipase,tigrfam_Lipo_Lipase pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_Lipo_Lipase,prints_Lipase,tigrfam_Lipo_Lipase - no_errors LPL HGNC ENSG00000175445 122 0 0.00 84 37 30.58 - - - LRCH1 0 genome.wustl.edu 37 13 47286664 47286664 + Missense_Mutation SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 13 47286664 47286664 G C SNP LRCH1 ENST00000389798 human ensembl 69_37n +1 known missense c.1586 p.R529T 0.114 NULL pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH1 HGNC ENSG00000136141 138 0 0.00 75 38 33.63 - - - LRCH2 0 genome.wustl.edu 37 X 114391183 114391183 + Missense_Mutation SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 X 114391183 114391183 G A SNP LRCH2 ENST00000317135 human ensembl 69_37n -1 known missense c.1511 p.T504I 0.406 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH2 HGNC ENSG00000130224 92 0 0.00 67 32 32.32 - - - LRRIQ1 0 genome.wustl.edu 37 12 85449664 85449664 + Missense_Mutation SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 12 85449664 85449664 G A SNP LRRIQ1 ENST00000393217 human ensembl 69_37n +1 known missense c.1093 p.E365K 1.000 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 35 0 0.00 29 13 30.95 - - - MAST4 0 genome.wustl.edu 37 5 66396326 66396326 + Missense_Mutation SNP C C G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 5 66396326 66396326 C G SNP MAST4 ENST00000404260 human ensembl 69_37n +1 known missense c.985 p.H329D 1.000 pfam_MA_Ser/Thr_Kinase_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST4 HGNC ENSG00000069020 147 0 0.00 93 25 21.19 - - - MCF2L2 0 genome.wustl.edu 37 3 183041052 183041052 + Missense_Mutation SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 3 183041052 183041052 G A SNP MCF2L2 ENST00000328913 human ensembl 69_37n -1 known missense c.574 p.R192C 0.997 pfscan_CRAL-TRIO_dom pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 169 0 0.00 118 56 32.18 - - - MEGF6 0 genome.wustl.edu 37 1 3519148 3519148 + Missense_Mutation SNP C C G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 1 3519148 3519148 C G SNP MEGF6 ENST00000356575 human ensembl 69_37n -1 known missense c.148 p.E50Q 0.915 pfscan_EMI_domain pfam_EGF_laminin,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 29 0 0.00 22 5 18.52 - - - METTL23 0 genome.wustl.edu 37 17 74729730 74729730 + Missense_Mutation SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 17 74729730 74729730 G C SNP METTL23 ENST00000341249 human ensembl 69_37n +1 known missense c.535 p.E179Q 1.000 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL23 HGNC ENSG00000181038 86 0 0.00 79 36 31.03 - - - MTR 0 genome.wustl.edu 37 1 236988693 236988693 + Silent SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 1 236988693 236988693 C T SNP MTR ENST00000366577 human ensembl 69_37n +1 known silent c.921 p.H307 0.798 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_MetH,pfscan_S_MeTrfase,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 145 0 0.00 122 38 23.75 - - - MYB 0 genome.wustl.edu 37 6 135515023 135515036 + Frame_Shift_Del DEL CAATGTCCCTCAGC CAATGTCCCTCAGC - TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 CAATGTCCCTCAGC CAATGTCCCTCAGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 6 135515023 135515036 CAATGTCCCTCAGC - DEL MYB ENST00000341911 human ensembl 69_37n +1 known frame_shift_del c.810_823 p.N271fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfam_Tscrpt_reg_Wos2-domain pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYB HGNC ENSG00000118513 327 0 0.00 298 58 16.25 - - - NAT14 0 genome.wustl.edu 37 19 55998266 55998266 + Frame_Shift_Del DEL G G - TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 19 55998266 55998266 G - DEL NAT14 ENST00000205194 human ensembl 69_37n +1 known frame_shift_del c.564 p.G190fs 0.991 pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT14 HGNC ENSG00000090971 16 0 0.00 4 2 33.33 - - - NBPF10 0 genome.wustl.edu 37 1 145299900 145299900 + Missense_Mutation SNP C C G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 1 145299900 145299900 C G SNP NBPF10 ENST00000342960 human ensembl 69_37n +1 known missense c.949 p.Q317E 0.000 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 368 0 0.00 353 51 12.59 - - - NCF2 0 genome.wustl.edu 37 1 183542412 183542412 + Missense_Mutation SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 1 183542412 183542412 C T SNP NCF2 ENST00000367535 human ensembl 69_37n -1 known missense c.517 p.E173K 0.996 NULL pfam_SH3_domain,pfam_SH3_2,pfam_TPR-1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain - no_errors NCF2 HGNC ENSG00000116701 119 0 0.00 133 42 24.00 - - - NHS 0 genome.wustl.edu 37 X 17746433 17746433 + Missense_Mutation SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 X 17746433 17746433 G A SNP NHS ENST00000380060 human ensembl 69_37n +1 known missense c.4144 p.E1382K 0.990 NULL NULL - no_errors NHS HGNC ENSG00000188158 60 0 0.00 48 19 28.36 - - - NOX4 0 genome.wustl.edu 37 11 89135609 89135609 + Nonsense_Mutation SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 11 89135609 89135609 G C SNP NOX4 ENST00000413594 human ensembl 69_37n -1 known nonsense c.794 p.S265* 0.158 NULL pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX4 HGNC ENSG00000086991 152 0 0.00 106 49 31.41 - - - NPEPPS 0 genome.wustl.edu 37 17 45664628 45664628 + Missense_Mutation SNP C C G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 17 45664628 45664628 C G SNP NPEPPS ENST00000322157 human ensembl 69_37n +1 known missense c.1013 p.S338C 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors NPEPPS HGNC ENSG00000141279 238 0 0.00 88 71 44.38 - - - NQO2 0 genome.wustl.edu 37 6 3017179 3017179 + Missense_Mutation SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 6 3017179 3017179 G A SNP NQO2 ENST00000338130 human ensembl 69_37n +1 known missense c.479 p.G160E 0.760 pfam_Flavodoxin_fold pfam_Flavodoxin_fold,pfam_FMN_red - no_errors NQO2 HGNC ENSG00000124588 87 0 0.00 58 38 39.58 - - - NRP1 0 genome.wustl.edu 37 10 33502481 33502481 + Missense_Mutation SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 10 33502481 33502481 C T SNP NRP1 ENST00000265371 human ensembl 69_37n -1 known missense c.1447 p.E483K 0.998 pirsf_Neuropilin,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pirsf_Neuropilin,pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP1 HGNC ENSG00000099250 229 0 0.00 147 50 25.25 - - - OPRL1 0 genome.wustl.edu 37 20 62730133 62730133 + Missense_Mutation SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 20 62730133 62730133 C T SNP OPRL1 ENST00000336866 human ensembl 69_37n +1 known missense c.1094 p.T365M 0.000 prints_X_opioid_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_X_opioid_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors OPRL1 HGNC ENSG00000125510 40 0 0.00 19 9 32.14 - - - OR14I1 0 genome.wustl.edu 37 1 248845388 248845388 + Nonsense_Mutation SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 1 248845388 248845388 G C SNP OR14I1 ENST00000342623 human ensembl 69_37n -1 known nonsense c.218 p.S73* 0.002 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR14I1 HGNC ENSG00000189181 194 0 0.00 166 45 21.33 - - - OR2B11 0 genome.wustl.edu 37 1 247614687 247614687 + Missense_Mutation SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 1 247614687 247614687 C T SNP OR2B11 ENST00000318749 human ensembl 69_37n -1 known missense c.598 p.D200N 0.044 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR2B11 HGNC ENSG00000177535 88 0 0.00 94 28 22.76 - - - OR4F15 0 genome.wustl.edu 37 15 102358587 102358587 + Silent SNP C C G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 15 102358587 102358587 C G SNP OR4F15 ENST00000332238 human ensembl 69_37n +1 known silent c.198 p.L66 0.999 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4F15 HGNC ENSG00000182854 209 0 0.00 236 35 12.92 - - - OTUD6A 0 genome.wustl.edu 37 X 69283015 69283015 + Missense_Mutation SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 X 69283015 69283015 C T SNP OTUD6A ENST00000338352 human ensembl 69_37n +1 known missense c.641 p.T214M 0.000 pfam_OTU,pfscan_OTU pfam_OTU,pfscan_OTU - no_errors OTUD6A HGNC ENSG00000189401 31 0 0.00 25 8 24.24 - - - PCDHGA11 0 genome.wustl.edu 37 5 140802020 140802020 + Missense_Mutation SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 5 140802020 140802020 G A SNP PCDHGA11 ENST00000398587 human ensembl 69_37n +1 known missense c.1226 p.R409K 0.005 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 70 0 0.00 54 20 27.03 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 143 0 0.00 78 38 32.76 - - - PIK3CB 0 genome.wustl.edu 37 3 138426040 138426040 + Missense_Mutation SNP C C G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 3 138426040 138426040 C G SNP PIK3CB ENST00000289153 human ensembl 69_37n -1 known missense c.1491 p.E497D 0.995 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CB HGNC ENSG00000051382 170 0 0.00 192 66 25.58 - - - PIM2 0 genome.wustl.edu 37 X 48771429 48771429 + Missense_Mutation SNP C C G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 X 48771429 48771429 C G SNP PIM2 ENST00000376509 human ensembl 69_37n -1 known missense c.915 p.L305F 0.001 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PIM2 HGNC ENSG00000102096 99 0 0.00 76 29 27.62 - - - PLK3 0 genome.wustl.edu 37 1 45271021 45271021 + Silent SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 1 45271021 45271021 C T SNP PLK3 ENST00000372201 human ensembl 69_37n +1 known silent c.1719 p.L573 0.001 pfam_POLO_box_duplicated_dom,pfscan_POLO_box_duplicated_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK3 HGNC ENSG00000173846 162 0 0.00 147 57 27.94 - - - PLK3 0 genome.wustl.edu 37 1 45271308 45271308 + Silent SNP C C G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 1 45271308 45271308 C G SNP PLK3 ENST00000372201 human ensembl 69_37n +1 known silent c.1899 p.L633 0.003 pfam_POLO_box_duplicated_dom,pfscan_POLO_box_duplicated_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK3 HGNC ENSG00000173846 60 0 0.00 41 19 31.67 - - - PLXDC1 0 genome.wustl.edu 37 17 37265502 37265502 + Missense_Mutation SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 17 37265502 37265502 G A SNP PLXDC1 ENST00000315392 human ensembl 69_37n -1 known missense c.398 p.S133L 1.000 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold - no_errors PLXDC1 HGNC ENSG00000161381 98 0 0.00 293 45 13.31 - - - PPP1R27 0 genome.wustl.edu 37 17 79792496 79792496 + Missense_Mutation SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 17 79792496 79792496 C T SNP PPP1R27 ENST00000330261 human ensembl 69_37n -1 known missense c.224 p.G75E 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R27 HGNC ENSG00000182676 190 0 0.00 127 51 28.65 - - - PPP1R3A 0 genome.wustl.edu 37 7 113558451 113558451 + Missense_Mutation SNP C C G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 7 113558451 113558451 C G SNP PPP1R3A ENST00000284601 human ensembl 69_37n -1 known missense c.601 p.D201H 1.000 pfam_CBM_21,pfscan_CBM_21 pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 155 0 0.00 170 22 11.46 - - - PRMT10 0 genome.wustl.edu 37 4 148564057 148564057 + Nonsense_Mutation SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 4 148564057 148564057 G A SNP PRMT10 ENST00000322396 human ensembl 69_37n -1 known nonsense c.2080 p.Q694* 1.000 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRMT10 HGNC ENSG00000164169 148 0 0.00 102 31 23.31 - - - PRRC2C 0 genome.wustl.edu 37 1 171535915 171535915 + Nonsense_Mutation SNP C C G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 1 171535915 171535915 C G SNP PRRC2C ENST00000392078 human ensembl 69_37n +1 known nonsense c.6491 p.S2164* 0.600 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 73 0 0.00 75 22 22.68 - - - RAB37 0 genome.wustl.edu 37 17 72739463 72739463 + Missense_Mutation SNP C C G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 17 72739463 72739463 C G SNP RAB37 ENST00000392614 human ensembl 69_37n +1 known missense c.365 p.S122C 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB37 HGNC ENSG00000172794 243 1 0.41 148 78 34.51 - - - RARB 0 genome.wustl.edu 37 3 25502710 25502710 + Missense_Mutation SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 3 25502710 25502710 G C SNP RARB ENST00000404969 human ensembl 69_37n +1 known missense c.205 p.E69Q 1.000 prints_Retinoic_acid_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 271 0 0.00 172 79 31.47 - - - RNF121 0 genome.wustl.edu 37 11 71706538 71706538 + Missense_Mutation SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 11 71706538 71706538 G C SNP RNF121 ENST00000361756 human ensembl 69_37n +1 known missense c.804 p.K268N 1.000 smart_Znf_RING,pfscan_Znf_RING smart_Znf_RING,pfscan_Znf_RING - no_errors RNF121 HGNC ENSG00000137522 240 0 0.00 144 79 35.43 - - - SCAF4 0 genome.wustl.edu 37 21 33043723 33043724 + Frame_Shift_Ins INS - - CT TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 21 33043723 33043724 - CT INS SCAF4 ENST00000286835 human ensembl 69_37n -1 known frame_shift_ins c.3433_3432 p.A1144fs 1.000:1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 104 0 0.00 54 23 29.87 - - - SCN1A 0 genome.wustl.edu 37 2 166848244 166848244 + Silent SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 2 166848244 166848244 G C SNP SCN1A ENST00000303395 human ensembl 69_37n -1 known silent c.5541 p.L1847 0.872 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 117 0 0.00 107 34 24.11 - - - SEC24B 0 genome.wustl.edu 37 4 110448569 110448569 + Silent SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 4 110448569 110448569 C T SNP SEC24B ENST00000265175 human ensembl 69_37n +1 known silent c.3057 p.I1019 1.000 pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC ENSG00000138802 208 0 0.00 122 59 32.60 - - - SLK 0 genome.wustl.edu 37 10 105779531 105779531 + Missense_Mutation SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 10 105779531 105779531 G A SNP SLK ENST00000369755 human ensembl 69_37n +1 known missense c.3172 p.E1058K 1.000 pfam_PKK,superfamily_Kinase-like_dom pfam_PKK,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UVR_dom,pfscan_Prot_kinase_cat_dom - no_errors SLK HGNC ENSG00000065613 48 0 0.00 42 6 12.50 - - - SLK 0 genome.wustl.edu 37 10 105779657 105779657 + Missense_Mutation SNP C C G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 10 105779657 105779657 C G SNP SLK ENST00000369755 human ensembl 69_37n +1 known missense c.3298 p.Q1100E 1.000 pfam_PKK,superfamily_Kinase-like_dom pfam_PKK,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UVR_dom,pfscan_Prot_kinase_cat_dom - no_errors SLK HGNC ENSG00000065613 75 0 0.00 49 16 24.62 - - - SMARCA1 0 genome.wustl.edu 37 X 128631942 128631942 + Missense_Mutation SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 X 128631942 128631942 G C SNP SMARCA1 ENST00000371122 human ensembl 69_37n -1 known missense c.1384 p.H462D 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC ENSG00000102038 115 0 0.00 101 46 31.29 - - - SMPD1 0 genome.wustl.edu 37 11 6412017 6412017 + Silent SNP T T G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 11 6412017 6412017 T G SNP SMPD1 ENST00000342245 human ensembl 69_37n +1 known silent c.189 p.P63 0.434 pirsf_Sphingomy_PDE pirsf_Sphingomy_PDE,pfam_Metallo_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB - no_errors SMPD1 HGNC ENSG00000166311 62 0 0.00 50 28 35.90 - - - SNX13 0 genome.wustl.edu 37 7 17913164 17913164 + Missense_Mutation SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 7 17913164 17913164 C T SNP SNX13 ENST00000428135 human ensembl 69_37n -1 novel missense c.740 p.R247Q 1.000 pfam_Phox_assoc,smart_PX_assoc_Snx13,pfscan_Phox_assoc pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal - no_errors SNX13 HGNC ENSG00000071189 144 0 0.00 98 41 29.50 - - - SPICE1 0 genome.wustl.edu 37 3 113172603 113172603 + Missense_Mutation SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 3 113172603 113172603 G C SNP SPICE1 ENST00000295872 human ensembl 69_37n -1 known missense c.1852 p.Q618E 0.053 NULL NULL - no_errors SPICE1 HGNC ENSG00000163611 292 0 0.00 200 108 35.06 - - - SRP72 0 genome.wustl.edu 37 4 57355616 57355616 + Silent SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 4 57355616 57355616 C T SNP SRP72 ENST00000342756 human ensembl 69_37n +1 known silent c.1287 p.F429 1.000 smart_TPR_repeat pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SRP72 HGNC ENSG00000174780 212 0 0.00 129 66 33.85 - - - SRSF1 0 genome.wustl.edu 37 17 56084325 56084325 + Silent SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 17 56084325 56084325 G A SNP SRSF1 ENST00000258962 human ensembl 69_37n -1 known silent c.174 p.F58 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF1 HGNC ENSG00000136450 66 0 0.00 67 28 29.47 - - - STAT5B 0 genome.wustl.edu 37 17 40370189 40370189 + Silent SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 17 40370189 40370189 G C SNP STAT5B ENST00000293328 human ensembl 69_37n -1 known silent c.1149 p.L383 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 179 0 0.00 47 50 51.55 - - - TAB3 0 genome.wustl.edu 37 X 30872359 30872359 + Missense_Mutation SNP C C G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 X 30872359 30872359 C G SNP TAB3 ENST00000288422 human ensembl 69_37n -1 known missense c.1423 p.E475Q 1.000 NULL pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC ENSG00000157625 186 0 0.00 124 70 36.08 - - - TAF1L 0 genome.wustl.edu 37 9 32633918 32633918 + Missense_Mutation SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 9 32633918 32633918 G C SNP TAF1L ENST00000242310 human ensembl 69_37n -1 known missense c.1660 p.L554V 0.998 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 254 0 0.00 201 87 30.21 - - - TCP11L2 0 genome.wustl.edu 37 12 106734763 106734763 + Missense_Mutation SNP C C G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 12 106734763 106734763 C G SNP TCP11L2 ENST00000299045 human ensembl 69_37n +1 known missense c.1302 p.I434M 0.856 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11L2 HGNC ENSG00000166046 166 0 0.00 144 58 28.71 - - - TGDS 0 genome.wustl.edu 37 13 95232153 95232153 + Missense_Mutation SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 13 95232153 95232153 C T SNP TGDS ENST00000261296 human ensembl 69_37n -1 known missense c.610 p.E204K 1.000 pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_Male_sterile_NAD-bd - no_errors TGDS HGNC ENSG00000088451 154 0 0.00 138 60 30.30 - - - TGM4 0 genome.wustl.edu 37 3 44945471 44945471 + Missense_Mutation SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 3 44945471 44945471 G A SNP TGM4 ENST00000296125 human ensembl 69_37n +1 known missense c.1067 p.R356Q 0.937 NULL pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM4 HGNC ENSG00000163810 29 0 0.00 37 22 37.29 - - - THAP7 0 genome.wustl.edu 37 22 21354267 21354267 + Missense_Mutation SNP C C G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 22 21354267 21354267 C G SNP THAP7 ENST00000215742 human ensembl 69_37n -1 known missense c.832 p.E278Q 1.000 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP7 HGNC ENSG00000184436 15 0 0.00 20 9 31.03 - - - THOC2 0 genome.wustl.edu 37 X 122820419 122820419 + Silent SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 X 122820419 122820419 C T SNP THOC2 ENST00000245838 human ensembl 69_37n -1 known silent c.747 p.G249 0.652 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 155 0 0.00 134 48 26.37 - - - TINAG 0 genome.wustl.edu 37 6 54191643 54191643 + Missense_Mutation SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 6 54191643 54191643 G C SNP TINAG ENST00000259782 human ensembl 69_37n +1 known missense c.553 p.E185Q 1.000 NULL pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAG HGNC ENSG00000137251 196 0 0.00 152 56 26.92 - - - TOMM20L 0 genome.wustl.edu 37 14 58875253 58875253 + Missense_Mutation SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 14 58875253 58875253 G C SNP TOMM20L ENST00000360945 human ensembl 69_37n +1 known missense c.412 p.E138Q 1.000 superfamily_Tom20_dom,pirsf_MAS20_rcpt-related,prints_MAS20_rcpt_metazoan pfam_MAS20_rcpt-related,superfamily_Tom20_dom,pirsf_MAS20_rcpt-related,prints_MAS20_rcpt_metazoan,prints_MAS20_rcpt-related - no_errors TOMM20L HGNC ENSG00000196860 204 0 0.00 162 62 27.68 - - - TPCN1 0 genome.wustl.edu 37 12 113731077 113731077 + Missense_Mutation SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 12 113731077 113731077 C T SNP TPCN1 ENST00000541517 human ensembl 69_37n +1 known missense c.2473 p.H825Y 0.026 NULL pfam_Ion_trans_dom - no_errors TPCN1 HGNC ENSG00000186815 83 0 0.00 63 10 13.70 - - - TRAF3IP3 0 genome.wustl.edu 37 1 209933475 209933475 + Missense_Mutation SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 1 209933475 209933475 G A SNP TRAF3IP3 ENST00000367024 human ensembl 69_37n +1 known missense c.91 p.E31K 0.895 NULL NULL - no_errors TRAF3IP3 HGNC ENSG00000009790 37 0 0.00 70 16 18.60 - - - TRANK1 0 genome.wustl.edu 37 3 36902452 36902452 + Silent SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 3 36902452 36902452 G A SNP TRANK1 ENST00000429976 human ensembl 69_37n -1 known silent c.1308 p.L436 0.801 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 223 0 0.00 180 105 36.84 - - - TRANK1 0 genome.wustl.edu 37 3 36902596 36902596 + Missense_Mutation SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 3 36902596 36902596 G C SNP TRANK1 ENST00000429976 human ensembl 69_37n -1 known missense c.1164 p.F388L 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 165 0 0.00 174 66 27.50 - - - TRIM25 0 genome.wustl.edu 37 17 54990828 54990828 + Silent SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 17 54990828 54990828 G A SNP TRIM25 ENST00000316881 human ensembl 69_37n -1 known silent c.522 p.C174 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors TRIM25 HGNC ENSG00000121060 18 0 0.00 22 31 58.49 - - - TTN 0 genome.wustl.edu 37 2 179560781 179560781 + Missense_Mutation SNP C C G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 2 179560781 179560781 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.27286 p.E9096Q 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 494 0 0.00 330 151 31.39 - - - TTN 0 genome.wustl.edu 37 2 179584560 179584560 + Splice_Site SNP C C G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 2 179584560 179584560 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known splice_site c.19928-1 e78-1 1.000 - - - no_errors TTN HGNC ENSG00000155657 185 0 0.00 146 72 33.03 - - - UBE4B 0 genome.wustl.edu 37 1 10177641 10177642 + Frame_Shift_Ins INS - - A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 1 10177641 10177642 - A INS UBE4B ENST00000343090 human ensembl 69_37n +1 known frame_shift_ins c.1321_1322 p.A444fs 1.000:1.000 NULL pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 56 0 0.00 42 15 26.32 - - - UMPS 0 genome.wustl.edu 37 3 124456998 124456998 + Missense_Mutation SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 3 124456998 124456998 G C SNP UMPS ENST00000232607 human ensembl 69_37n +1 known missense c.894 p.L298F 1.000 pfam_OMPdeCOase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase pfam_OMPdeCOase_dom,pfam_PRibTrfase,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase,tigrfam_Or_phspho_trans_clade-1 - no_errors UMPS HGNC ENSG00000114491 138 0 0.00 106 38 26.39 - - - WDR33 0 genome.wustl.edu 37 2 128476996 128476996 + Missense_Mutation SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 2 128476996 128476996 G C SNP WDR33 ENST00000322313 human ensembl 69_37n -1 known missense c.2603 p.S868C 0.939 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 63 0 0.00 39 19 32.76 - - - ZNF567 0 genome.wustl.edu 37 19 37211247 37211247 + Missense_Mutation SNP T T A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx efaa9c0b-c14b-4141-b48c-cc2c6b89ab73 95699bf2-296b-4b90-8328-3e423c69e282 19 37211247 37211247 T A SNP ZNF567 ENST00000536254 human ensembl 69_37n +1 known missense c.1621 p.S541T 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 ZNF567 HGNC ENSG00000189042 77 0 0.00 59 13 18.06 - - -