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 ABCA11P 0 genome.wustl.edu 37 4 420088 420088 + RNA SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 4 420088 420088 G A SNP ABCA11P ENST00000451020 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors ABCA11P HGNC ENSG00000251595 46 0 0.00 37 7 15.91 - - - ABCF2 0 genome.wustl.edu 37 7 150915925 150915925 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 7 150915925 150915925 T C SNP ABCF2 ENST00000222388 human ensembl 69_37n -1 known missense c.1052 p.K351R 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF2 HGNC ENSG00000033050 47 0 0.00 31 11 26.19 - - - ACSM5 0 genome.wustl.edu 37 16 20448431 20448431 + Nonsense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 16 20448431 20448431 C T SNP ACSM5 ENST00000331849 human ensembl 69_37n +1 known nonsense c.1366 p.R456* 0.981 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM5 HGNC ENSG00000183549 87 0 0.00 59 7 10.61 - - - ADAM8 0 genome.wustl.edu 37 10 135084508 135084508 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 10 135084508 135084508 C T SNP ADAM8 ENST00000445355 human ensembl 69_37n -1 known missense c.1441 p.G481S 1.000 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,pfam_ADAM_Cys-rich,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM8 HGNC ENSG00000151651 29 0 0.00 13 4 23.53 - - - ADCY5 0 genome.wustl.edu 37 3 123022988 123022988 + Silent SNP G G T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 3 123022988 123022988 G T SNP ADCY5 ENST00000462833 human ensembl 69_37n -1 known silent c.2485 p.R829 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 14 0 0.00 13 4 23.53 - - - ADD2 0 genome.wustl.edu 37 2 70905920 70905920 + Missense_Mutation SNP C C A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 2 70905920 70905920 C A SNP ADD2 ENST00000264436 human ensembl 69_37n -1 known missense c.1299 p.W433C 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 59 0 0.00 27 6 18.18 - - - ADD2 0 genome.wustl.edu 37 2 70906014 70906014 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 2 70906014 70906014 G A SNP ADD2 ENST00000264436 human ensembl 69_37n -1 known missense c.1205 p.A402V 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 91 0 0.00 36 10 21.74 - - - ADSL 0 genome.wustl.edu 37 22 40755272 40755272 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 22 40755272 40755272 G A SNP ADSL ENST00000454266 human ensembl 69_37n +1 known silent c.705 p.Q235 0.999 pfam_Lyase1_N,superfamily_L-Aspartase-like,tigrfam_Pur_lyase pfam_Lyase1_N,pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase,prints_D_crystallin,tigrfam_Pur_lyase - no_errors ADSL HGNC ENSG00000239900 131 0 0.00 56 16 22.22 - - - AGMAT 0 genome.wustl.edu 37 1 15906613 15906613 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 15906613 15906613 G A SNP AGMAT ENST00000375826 human ensembl 69_37n -1 known missense c.500 p.P167L 1.000 pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Agmatinase-rel pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Agmatinase-rel - no_errors AGMAT HGNC ENSG00000116771 135 1 0.74 69 9 11.54 - - - ALDH3B2 0 genome.wustl.edu 37 11 67434057 67434057 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 11 67434057 67434057 C T SNP ALDH3B2 ENST00000349015 human ensembl 69_37n -1 known missense c.139 p.A47T 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH3B2 HGNC ENSG00000132746 42 0 0.00 23 6 20.00 - - - ALG10 0 genome.wustl.edu 37 12 34179103 34179103 + Silent SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 12 34179103 34179103 A G SNP ALG10 ENST00000266483 human ensembl 69_37n +1 known silent c.675 p.G225 0.997 pfam_Glycosyltransferase_ALG10,pirsf_Alpha1_2_glucosyltferase_Alg10 pfam_Glycosyltransferase_ALG10,pirsf_Alpha1_2_glucosyltferase_Alg10 - no_errors ALG10 HGNC ENSG00000139133 100 0 0.00 62 12 16.22 - - - ALG14 0 genome.wustl.edu 37 1 95492695 95492695 + Missense_Mutation SNP T T G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 95492695 95492695 T G SNP ALG14 ENST00000370205 human ensembl 69_37n -1 known missense c.410 p.K137T 1.000 pfam_Oligosacch_biosynth_Alg14 pfam_Oligosacch_biosynth_Alg14 - no_errors ALG14 HGNC ENSG00000172339 39 0 0.00 36 4 10.00 - - - AMY2B 0 genome.wustl.edu 37 1 104117917 104117917 + Silent SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 104117917 104117917 A G SNP AMY2B ENST00000361355 human ensembl 69_37n +1 known silent c.951 p.Q317 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,prints_Alpha_amylase pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 161 0 0.00 84 13 13.40 - - - ANPEP 0 genome.wustl.edu 37 15 90348325 90348325 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 15 90348325 90348325 G A SNP ANPEP ENST00000300060 human ensembl 69_37n -1 known missense c.881 p.A294V 0.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ANPEP HGNC ENSG00000166825 64 0 0.00 33 6 15.38 - - - AP2B1 0 genome.wustl.edu 37 17 33953640 33953640 + Silent SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 17 33953640 33953640 C T SNP AP2B1 ENST00000312678 human ensembl 69_37n +1 known silent c.717 p.S239 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu - no_errors AP2B1 HGNC ENSG00000006125 20 0 0.00 26 7 21.21 - - - AP5M1 0 genome.wustl.edu 37 14 57749707 57749707 + Nonsense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 14 57749707 57749707 C T SNP AP5M1 ENST00000261558 human ensembl 69_37n +1 known nonsense c.1144 p.R382* 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C - no_errors AP5M1 HGNC ENSG00000053770 121 0 0.00 59 13 18.06 - - - APBA2 0 genome.wustl.edu 37 15 29367161 29367161 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 15 29367161 29367161 G A SNP APBA2 ENST00000558259 human ensembl 69_37n +1 known missense c.989 p.R330H 1.000 NULL pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom - no_errors APBA2 HGNC ENSG00000034053 69 0 0.00 45 6 11.76 - - - APEX2 0 genome.wustl.edu 37 X 55029489 55029489 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 X 55029489 55029489 C T SNP APEX2 ENST00000374987 human ensembl 69_37n +1 known missense c.517 p.R173C 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III - no_errors APEX2 HGNC ENSG00000169188 59 0 0.00 24 8 24.24 - - - APITD1 0 genome.wustl.edu 37 1 10502382 10502382 + Missense_Mutation SNP C C A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 10502382 10502382 C A SNP APITD1 ENST00000309048 human ensembl 69_37n +1 known missense c.337 p.Q113K 0.776 NULL pfam_TFIID-31,superfamily_Histone-fold - no_errors APITD1 HGNC ENSG00000175279 49 0 0.00 34 4 10.53 - - - APOB 0 genome.wustl.edu 37 2 21233643 21233643 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 2 21233643 21233643 G A SNP APOB ENST00000233242 human ensembl 69_37n -1 known missense c.6097 p.P2033S 0.088 NULL 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 74 0 0.00 42 7 14.29 - - - ARHGAP18 0 genome.wustl.edu 37 6 130031253 130031253 + Missense_Mutation SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 6 130031253 130031253 A G SNP ARHGAP18 ENST00000275189 human ensembl 69_37n -1 known missense c.29 p.V10A 0.999 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP18 HGNC ENSG00000146376 63 0 0.00 33 5 12.82 - - - ARHGAP33 0 genome.wustl.edu 37 19 36278850 36278850 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 19 36278850 36278850 T C SNP ARHGAP33 ENST00000007510 human ensembl 69_37n +1 known missense c.3383 p.L1128P 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 17 0 0.00 9 4 30.77 - - - ARHGAP39 0 genome.wustl.edu 37 8 145830970 145830970 + Silent SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 8 145830970 145830970 C T SNP ARHGAP39 ENST00000377307 human ensembl 69_37n -1 known silent c.30 p.R10 0.933 NULL pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 39 0 0.00 14 4 22.22 - - - ARHGEF28 0 genome.wustl.edu 37 5 73200210 73200210 + Missense_Mutation SNP C C A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 5 73200210 73200210 C A SNP ARHGEF28 ENST00000545377 human ensembl 69_37n +1 known missense c.4141 p.R1381S 0.994 NULL pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF28 HGNC ENSG00000214944 127 0 0.00 73 10 12.05 - - - ARMC2 0 genome.wustl.edu 37 6 109190033 109190033 + Missense_Mutation SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 6 109190033 109190033 A G SNP ARMC2 ENST00000392644 human ensembl 69_37n +1 known missense c.298 p.K100E 0.968 NULL superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMC2 HGNC ENSG00000118690 29 0 0.00 33 7 17.50 - - - ARMC2 0 genome.wustl.edu 37 6 109215690 109215690 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 6 109215690 109215690 C T SNP ARMC2 ENST00000392644 human ensembl 69_37n +1 known missense c.692 p.A231V 0.000 NULL superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMC2 HGNC ENSG00000118690 30 0 0.00 27 7 20.59 - - - ASPRV1 0 genome.wustl.edu 37 2 70188297 70188297 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 2 70188297 70188297 G A SNP ASPRV1 ENST00000320256 human ensembl 69_37n -1 known missense c.524 p.P175L 0.003 NULL pfam_Peptidase_aspartic_euk-pred,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic,pfscan_Peptidase_A2_cat - no_errors ASPRV1 HGNC ENSG00000244617 32 0 0.00 35 8 18.60 - - - ASTE1 0 genome.wustl.edu 37 3 130743497 130743498 + Frame_Shift_Del DEL AA AA - TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 3 130743497 130743498 AA - DEL ASTE1 ENST00000264992 human ensembl 69_37n -1 known frame_shift_del c.654_653 p.F218fs 0.997:1.000 NULL pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 30 0 0.00 28 5 15.15 - - - BAIAP2L1 0 genome.wustl.edu 37 7 97939890 97939890 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 7 97939890 97939890 G A SNP BAIAP2L1 ENST00000005260 human ensembl 69_37n -1 known silent c.822 p.Y274 0.434 NULL pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L1 HGNC ENSG00000006453 76 0 0.00 35 9 20.45 - - - BCAS3 0 genome.wustl.edu 37 17 58988000 58988000 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 17 58988000 58988000 G A SNP BCAS3 ENST00000390652 human ensembl 69_37n +1 known silent c.930 p.R310 0.549 NULL pfam_BCAS3,pfam_WD40_repeat - no_errors BCAS3 HGNC ENSG00000141376 42 0 0.00 45 6 11.54 - - - BPIFB4 0 genome.wustl.edu 37 20 31671634 31671634 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 20 31671634 31671634 G A SNP BPIFB4 ENST00000375483 human ensembl 69_37n +1 known missense c.631 p.V211M 0.722 pfam_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 33 0 0.00 22 4 15.38 - - - BRD8 0 genome.wustl.edu 37 5 137476347 137476347 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 5 137476347 137476347 G A SNP BRD8 ENST00000427976 human ensembl 69_37n -1 putative missense c.980 p.T327M 0.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_start_codon BRD8 HGNC ENSG00000112983 35 0 0.00 27 9 25.00 - - - BROX 0 genome.wustl.edu 37 1 222906001 222906001 + Missense_Mutation SNP C C A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 222906001 222906001 C A SNP BROX ENST00000340934 human ensembl 69_37n +1 known missense c.1181 p.P394H 1.000 pfscan_BRO1_dom pfam_BRO1_dom,pfscan_BRO1_dom - no_errors BROX HGNC ENSG00000162819 50 0 0.00 51 15 22.73 - - - BRWD1 0 genome.wustl.edu 37 21 40570950 40570950 + Missense_Mutation SNP A A T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 21 40570950 40570950 A T SNP BRWD1 ENST00000333229 human ensembl 69_37n -1 known missense c.5392 p.S1798T 0.004 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors BRWD1 HGNC ENSG00000185658 58 0 0.00 55 8 12.70 - - - C1orf123 0 genome.wustl.edu 37 1 53681666 53681668 + In_Frame_Del DEL CTC CTC - TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 53681666 53681668 CTC - DEL C1orf123 ENST00000294360 human ensembl 69_37n -1 known in_frame_del c.402_400 p.E134in_frame_del 0.991:1.000:1.000 pfam_DUF866_euk pfam_DUF866_euk - no_errors C1orf123 HGNC ENSG00000162384 83 0 0.00 44 6 12.00 - - - C2orf76 0 genome.wustl.edu 37 2 120060116 120060116 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 2 120060116 120060116 T C SNP C2orf76 ENST00000334816 human ensembl 69_37n -1 known missense c.313 p.T105A 1.000 pfam_UPF0538 pfam_UPF0538 - no_errors C2orf76 HGNC ENSG00000186132 67 0 0.00 57 8 12.31 - - - C8G 0 genome.wustl.edu 37 9 139840387 139840387 + Silent SNP G G T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 9 139840387 139840387 G T SNP C8G ENST00000224181 human ensembl 69_37n +1 known silent c.282 p.G94 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_A1-microglobln,prints_Lipocalin - no_errors C8G HGNC ENSG00000176919 26 0 0.00 17 6 26.09 - - - CABYR 0 genome.wustl.edu 37 18 21735866 21735866 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 18 21735866 21735866 C T SNP CABYR ENST00000463087 human ensembl 69_37n +1 known missense c.401 p.T134M 0.000 NULL pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b - no_errors CABYR HGNC ENSG00000154040 31 0 0.00 29 7 19.44 - - - CACNA1E 0 genome.wustl.edu 37 1 181690990 181690990 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 181690990 181690990 G A SNP CACNA1E ENST00000367573 human ensembl 69_37n +1 known missense c.2053 p.V685M 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 70 0 0.00 38 9 19.15 - - - CACNA1H 0 genome.wustl.edu 37 16 1248638 1248638 + Missense_Mutation SNP C C G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 16 1248638 1248638 C G SNP CACNA1H ENST00000348261 human ensembl 69_37n +1 known missense c.667 p.L223V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 43 0 0.00 17 7 29.17 - - - CACNB2 0 genome.wustl.edu 37 10 18827198 18827198 + Silent SNP C C A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 10 18827198 18827198 C A SNP CACNB2 ENST00000324631 human ensembl 69_37n +1 known silent c.1392 p.T464 0.851 NULL pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su - no_errors CACNB2 HGNC ENSG00000165995 69 0 0.00 50 7 12.28 - - - CAPN2 0 genome.wustl.edu 37 1 223934727 223934727 + Frame_Shift_Del DEL G G - TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 223934727 223934727 G - DEL CAPN2 ENST00000295006 human ensembl 69_37n +1 known frame_shift_del c.589 p.G198fs 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN2 HGNC ENSG00000162909 51 0 0.00 20 6 23.08 - - - CAPRIN2 0 genome.wustl.edu 37 12 30904069 30904069 + Splice_Site SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 12 30904069 30904069 T C SNP CAPRIN2 ENST00000251071 human ensembl 69_37n -1 known splice_site c.421-2 e2-2 1.000 - - - no_errors CAPRIN2 HGNC ENSG00000110888 46 0 0.00 43 9 17.31 - - - CBWD1 0 genome.wustl.edu 37 9 163985 163985 + Silent SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 9 163985 163985 A G SNP CBWD1 ENST00000356521 human ensembl 69_37n -1 known silent c.483 p.Y161 0.999 pfam_Cbl_biosynth_CobW-like pfam_Cbl_biosynth_CobW-like,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C - no_errors CBWD1 HGNC ENSG00000172785 122 1 0.81 80 13 13.98 - - - CCDC110 0 genome.wustl.edu 37 4 186382306 186382306 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 4 186382306 186382306 G A SNP CCDC110 ENST00000307588 human ensembl 69_37n -1 known missense c.245 p.S82L 1.000 NULL superfamily_4_helix_cytokine-like_core - no_errors CCDC110 HGNC ENSG00000168491 88 0 0.00 57 12 17.39 - - - CCDC138 0 genome.wustl.edu 37 2 109432417 109432417 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 2 109432417 109432417 T C SNP CCDC138 ENST00000456512 human ensembl 69_37n +1 novel missense c.752 p.F251S 0.998 NULL NULL - no_start_codon:pseudogene:no_stop_codon CCDC138 HGNC ENSG00000163006 64 0 0.00 46 10 17.86 - - - CCDC168 0 genome.wustl.edu 37 13 103382857 103382857 + Silent SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 13 103382857 103382857 T C SNP CCDC168 ENST00000322527 human ensembl 69_37n -1 known silent c.6303 p.K2101 0.000 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 59 0 0.00 43 6 12.24 - - - CCDC24 0 genome.wustl.edu 37 1 44461500 44461500 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 44461500 44461500 G A SNP CCDC24 ENST00000372318 human ensembl 69_37n +1 known missense c.673 p.G225R 0.000 NULL NULL - no_errors CCDC24 HGNC ENSG00000159214 43 0 0.00 21 4 16.00 - - - CDC6 0 genome.wustl.edu 37 17 38449856 38449857 + Frame_Shift_Del DEL AT AT - TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 AT AT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 17 38449856 38449857 AT - DEL CDC6 ENST00000209728 human ensembl 69_37n +1 known frame_shift_del c.809_810 p.M271fs 0.453:0.405 pfam_ATPase_AAA_core,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6 pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6 - no_errors CDC6 HGNC ENSG00000094804 45 0 0.00 31 5 13.89 - - - CDK11B 0 genome.wustl.edu 37 1 1573880 1573880 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 1573880 1573880 C T SNP CDK11B ENST00000407249 human ensembl 69_37n -1 known missense c.1333 p.A445T 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK11B HGNC ENSG00000248333 142 0 0.00 45 7 13.46 - - - CDK5RAP2 0 genome.wustl.edu 37 9 123220813 123220813 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 9 123220813 123220813 C T SNP CDK5RAP2 ENST00000349780 human ensembl 69_37n -1 known missense c.2290 p.A764T 0.000 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 61 0 0.00 45 10 18.18 - - - CDYL 0 genome.wustl.edu 37 6 4943948 4943948 + Silent SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 6 4943948 4943948 C T SNP CDYL ENST00000328908 human ensembl 69_37n +1 known silent c.1452 p.G484 1.000 pfam_Crotonase_core pfam_Crotonase_core,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 73 0 0.00 34 4 10.53 - - - CELA3B 0 genome.wustl.edu 37 1 22310304 22310304 + Silent SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 22310304 22310304 C T SNP CELA3B ENST00000337107 human ensembl 69_37n +1 known silent c.480 p.T160 0.237 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CELA3B HGNC ENSG00000219073 29 0 0.00 22 6 21.43 - - - CENPF 0 genome.wustl.edu 37 1 214814654 214814654 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 214814654 214814654 G A SNP CENPF ENST00000366955 human ensembl 69_37n +1 known missense c.2973 p.M991I 0.130 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 23 0 0.00 25 6 19.35 - - - CEP350 0 genome.wustl.edu 37 1 179959671 179959671 + Silent SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 179959671 179959671 A G SNP CEP350 ENST00000367607 human ensembl 69_37n +1 known silent c.150 p.V50 0.998 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 40 0 0.00 43 5 10.42 - - - CHST11 0 genome.wustl.edu 37 12 105151273 105151273 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 12 105151273 105151273 C T SNP CHST11 ENST00000303694 human ensembl 69_37n +1 known missense c.751 p.R251W 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST11 HGNC ENSG00000171310 60 0 0.00 27 6 17.65 - - - CITED1 0 genome.wustl.edu 37 X 71521829 71521829 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 X 71521829 71521829 G A SNP CITED1 ENST00000431381 human ensembl 69_37n -1 known missense c.404 p.A135V 0.003 pfam_CITED pfam_CITED - no_errors CITED1 HGNC ENSG00000125931 47 0 0.00 36 4 10.00 - - - CLCN2 0 genome.wustl.edu 37 3 184072690 184072690 + Splice_Site SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 3 184072690 184072690 A G SNP CLCN2 ENST00000265593 human ensembl 69_37n -1 known splice_site c.1396+2 e13+2 1.000 - - - no_errors CLCN2 HGNC ENSG00000114859 27 0 0 16 7 30.43 - - - CLRN3 0 genome.wustl.edu 37 10 129676623 129676623 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 10 129676623 129676623 G A SNP CLRN3 ENST00000368671 human ensembl 69_37n -1 known silent c.471 p.S157 0.000 NULL NULL - no_errors CLRN3 HGNC ENSG00000180745 36 0 0.00 29 9 23.68 - - - CNIH3 0 genome.wustl.edu 37 1 224872505 224872505 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 224872505 224872505 G A SNP CNIH3 ENST00000272133 human ensembl 69_37n +1 known missense c.158 p.R53Q 1.000 NULL pfam_Cornichon - no_errors CNIH3 HGNC ENSG00000143786 125 0 0.00 44 9 16.98 - - - CPEB1 0 genome.wustl.edu 37 15 83240148 83240148 + Nonsense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 15 83240148 83240148 G A SNP CPEB1 ENST00000562019 human ensembl 69_37n -1 known nonsense c.325 p.R109* 1.000 NULL pfscan_RRM_dom - no_errors CPEB1 HGNC ENSG00000214575 70 0 0.00 25 6 19.35 - - - CREB5 0 genome.wustl.edu 37 7 28610052 28610052 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 7 28610052 28610052 C T SNP CREB5 ENST00000357727 human ensembl 69_37n +1 known missense c.361 p.R121W 0.984 pirsf_TF_cAMP-dep pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors CREB5 HGNC ENSG00000146592 42 0 0.00 28 4 12.50 - - - CWC22 0 genome.wustl.edu 37 2 180809917 180809917 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 2 180809917 180809917 G A SNP CWC22 ENST00000295749 human ensembl 69_37n -1 known missense c.2666 p.S889F 0.980 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors CWC22 HGNC ENSG00000163510 108 0 0.00 59 13 18.06 - - - CWF19L1 0 genome.wustl.edu 37 10 102006652 102006652 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 10 102006652 102006652 T C SNP CWF19L1 ENST00000354105 human ensembl 69_37n -1 known missense c.749 p.D250G 0.927 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L1 HGNC ENSG00000095485 79 0 0.00 42 7 14.29 - - - CYFIP2 0 genome.wustl.edu 37 5 156766240 156766240 + Missense_Mutation SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 5 156766240 156766240 A G SNP CYFIP2 ENST00000318218 human ensembl 69_37n +1 known missense c.2636 p.Y879C 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 54 0 0.00 34 4 10.53 - - - DALRD3 0 genome.wustl.edu 37 3 49055971 49055971 + Silent SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 3 49055971 49055971 C T SNP DALRD3 ENST00000341949 human ensembl 69_37n -1 known silent c.27 p.G9 1.000 NULL pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd - no_errors DALRD3 HGNC ENSG00000178149 12 0 0.00 8 5 38.46 - - - DBR1 0 genome.wustl.edu 37 3 137880738 137880739 + In_Frame_Ins INS - - CAT TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 3 137880738 137880739 - CAT INS DBR1 ENST00000260803 human ensembl 69_37n -1 known in_frame_ins c.1628_1627 p.543in_frame_insD 0.000:0.038 NULL pfam_DBR1_C,pfam_Metallo_PEstase_dom - no_errors DBR1 HGNC ENSG00000138231 117 0 0.00 44 7 13.73 - - - DCHS1 0 genome.wustl.edu 37 11 6653279 6653279 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 11 6653279 6653279 C T SNP DCHS1 ENST00000299441 human ensembl 69_37n -1 known missense c.3464 p.R1155H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 102 1 0.97 40 8 16.67 - - - DCLK1 0 genome.wustl.edu 37 13 36445388 36445388 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 13 36445388 36445388 T C SNP DCLK1 ENST00000360631 human ensembl 69_37n -1 known missense c.913 p.S305G 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom - no_errors DCLK1 HGNC ENSG00000133083 94 0 0.00 50 6 10.71 - - - DCSTAMP 0 genome.wustl.edu 37 8 105367367 105367367 + Missense_Mutation SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 8 105367367 105367367 A G SNP DCSTAMP ENST00000297581 human ensembl 69_37n +1 known missense c.1292 p.Q431R 0.056 superfamily_ABC_transptrTM_dom_typ1 pfam_DC_STAMP-like,superfamily_ABC_transptrTM_dom_typ1 - no_errors DCSTAMP HGNC ENSG00000164935 44 0 0.00 34 8 19.05 - - - DDX27 0 genome.wustl.edu 37 20 47858504 47858504 + Frame_Shift_Del DEL A A - TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 20 47858504 47858504 A - DEL DDX27 ENST00000371764 human ensembl 69_37n +1 known frame_shift_del c.2065 p.K691fs 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 DDX27 HGNC ENSG00000124228 48 0 0.00 31 9 22.50 - - - DEFB136 0 genome.wustl.edu 37 8 11831477 11831477 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 8 11831477 11831477 G A SNP DEFB136 ENST00000382209 human ensembl 69_37n -1 known missense c.206 p.P69L 0.003 NULL NULL - no_errors DEFB136 HGNC ENSG00000205884 51 0 0.00 43 8 15.69 - - - DGKB 0 genome.wustl.edu 37 7 14758165 14758165 + Splice_Site SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 7 14758165 14758165 A G SNP DGKB ENST00000258767 human ensembl 69_37n -1 known splice_site c.466+2 e5+2 0.999 - - - no_errors DGKB HGNC ENSG00000136267 57 0 0 45 8 15.09 - - - DHDDS 0 genome.wustl.edu 37 1 26764736 26764736 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 26764736 26764736 G A SNP DHDDS ENST00000360009 human ensembl 69_37n +1 known silent c.141 p.R47 0.863 pfam_UPP_synth-like,superfamily_UPP_synth-like,tigrfam_UPP_synth-like pfam_UPP_synth-like,superfamily_UPP_synth-like,tigrfam_UPP_synth-like - no_errors DHDDS HGNC ENSG00000117682 67 0 0.00 44 5 10.20 - - - DHX34 0 genome.wustl.edu 37 19 47884112 47884112 + Nonsense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 19 47884112 47884112 C T SNP DHX34 ENST00000328771 human ensembl 69_37n +1 known nonsense c.3022 p.Q1008* 0.997 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 60 0 0.00 29 5 14.71 - - - DMKN 0 genome.wustl.edu 37 19 35994348 35994348 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 19 35994348 35994348 T C SNP DMKN ENST00000440396 human ensembl 69_37n -1 known missense c.1226 p.D409G 0.998 NULL NULL - no_errors DMKN HGNC ENSG00000161249 96 0 0.00 48 12 20.00 - - - DNAH9 0 genome.wustl.edu 37 17 11584201 11584201 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 17 11584201 11584201 G A SNP DNAH9 ENST00000262442 human ensembl 69_37n +1 known silent c.3738 p.P1246 0.830 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 41 0 0.00 25 5 16.67 - - - DNAJC7 0 genome.wustl.edu 37 17 40141457 40141457 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 17 40141457 40141457 C T SNP DNAJC7 ENST00000457167 human ensembl 69_37n -1 known missense c.718 p.A240T 1.000 pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,pfam_DnaJ_N,superfamily_DnaJ_N,smart_TPR_repeat,smart_DnaJ_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC7 HGNC ENSG00000168259 33 0 0.00 40 8 16.67 - - - DNALI1 0 genome.wustl.edu 37 1 38023344 38023344 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 38023344 38023344 C T SNP DNALI1 ENST00000541606 human ensembl 69_37n +1 known missense c.14 p.P5L 0.986 NULL pfam_Axonemal_dynein_light_chain - no_errors DNALI1 HGNC ENSG00000163879 46 0 0.00 37 9 19.57 - - - DOT1L 0 genome.wustl.edu 37 19 2185914 2185914 + Missense_Mutation SNP C C A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 19 2185914 2185914 C A SNP DOT1L ENST00000398665 human ensembl 69_37n +1 known missense c.186 p.D62E 1.000 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 76 0 0.00 51 7 11.86 - - - ECHDC2 0 genome.wustl.edu 37 1 53362256 53362256 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 53362256 53362256 C T SNP ECHDC2 ENST00000371522 human ensembl 69_37n -1 known missense c.815 p.R272Q 0.691 NULL pfam_Crotonase_core - no_errors ECHDC2 HGNC ENSG00000121310 51 0 0.00 24 10 29.41 - - - EIF4A3 0 genome.wustl.edu 37 17 78109862 78109862 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 17 78109862 78109862 C T SNP EIF4A3 ENST00000269349 human ensembl 69_37n -1 known missense c.1160 p.R387H 0.998 pfscan_Helicase_C 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 EIF4A3 HGNC ENSG00000141543 75 0 0.00 46 13 22.03 - - - ELOVL4 0 genome.wustl.edu 37 6 80656915 80656915 + Missense_Mutation SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 6 80656915 80656915 A G SNP ELOVL4 ENST00000369816 human ensembl 69_37n -1 known missense c.82 p.W28R 1.000 NULL pfam_GNS1_SUR4 - no_errors ELOVL4 HGNC ENSG00000118402 38 0 0.00 19 7 26.92 - - - ERCC6L2 0 genome.wustl.edu 37 9 98703810 98703810 + Missense_Mutation SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 9 98703810 98703810 A G SNP ERCC6L2 ENST00000437817 human ensembl 69_37n +1 known missense c.1292 p.N431S 1.000 pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 76 0 0.00 49 8 14.04 - - - EVC 0 genome.wustl.edu 37 4 5721019 5721019 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 4 5721019 5721019 G A SNP EVC ENST00000264956 human ensembl 69_37n +1 known silent c.219 p.A73 0.000 NULL NULL - no_errors EVC HGNC ENSG00000072840 82 0 0.00 48 12 20.00 - - - EVC 0 genome.wustl.edu 37 4 5795342 5795342 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 4 5795342 5795342 T C SNP EVC ENST00000264956 human ensembl 69_37n +1 known missense c.1784 p.M595T 1.000 NULL NULL - no_errors EVC HGNC ENSG00000072840 26 0 0.00 16 5 23.81 - - - EZH2 0 genome.wustl.edu 37 7 148525902 148525902 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 7 148525902 148525902 G A SNP EZH2 ENST00000320356 human ensembl 69_37n -1 known silent c.555 p.D185 0.201 smart_SANT/Myb pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH2 HGNC ENSG00000106462 110 0 0.00 59 16 21.33 - - - F2R 0 genome.wustl.edu 37 5 76028893 76028893 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 5 76028893 76028893 G A SNP F2R ENST00000319211 human ensembl 69_37n +1 known silent c.843 p.V281 1.000 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,prints_Protea_act_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Thrmbn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam - no_errors F2R HGNC ENSG00000181104 98 0 0.00 44 9 16.98 - - - FAM120C 0 genome.wustl.edu 37 X 54112279 54112279 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 X 54112279 54112279 G A SNP FAM120C ENST00000375180 human ensembl 69_37n -1 known missense c.2708 p.P903L 0.948 NULL NULL - no_errors FAM120C HGNC ENSG00000184083 69 0 0.00 32 14 30.43 - - - FAM162B 0 genome.wustl.edu 37 6 117083229 117083229 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 6 117083229 117083229 C T SNP FAM162B ENST00000368557 human ensembl 69_37n -1 known missense c.301 p.A101T 1.000 pfam_DUF1075 pfam_DUF1075 - no_errors FAM162B HGNC ENSG00000183807 102 0 0.00 70 14 16.67 - - - FAM170B 0 genome.wustl.edu 37 10 50340002 50340002 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 10 50340002 50340002 T C SNP FAM170B ENST00000311787 human ensembl 69_37n -1 known missense c.508 p.K170E 0.026 NULL NULL - no_errors FAM170B HGNC ENSG00000172538 25 0 0.00 23 7 23.33 - - - FAM181A 0 genome.wustl.edu 37 14 94391640 94391641 + Frame_Shift_Ins INS - - T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 14 94391640 94391641 - T INS FAM181A ENST00000267594 human ensembl 69_37n +1 known frame_shift_ins c.23_24 p.S9fs 0.000:0.000 NULL NULL - no_errors FAM181A HGNC ENSG00000140067 44 0 0.00 23 5 17.86 - - - FAM200B 0 genome.wustl.edu 37 4 15689207 15689207 + Nonsense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 4 15689207 15689207 C T SNP FAM200B ENST00000422728 human ensembl 69_37n +1 putative nonsense c.607 p.R203* 0.940 NULL superfamily_RNaseH-like_dom,superfamily_PAH - no_errors FAM200B HGNC ENSG00000237765 35 0 0.00 23 7 23.33 - - - FAM219A 0 genome.wustl.edu 37 9 34402458 34402458 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 9 34402458 34402458 C T SNP FAM219A ENST00000445726 human ensembl 69_37n -1 known missense c.271 p.V91I 1.000 NULL NULL - no_errors FAM219A HGNC ENSG00000164970 68 0 0.00 44 17 27.87 - - - FANCC 0 genome.wustl.edu 37 9 97873907 97873907 + Silent SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 9 97873907 97873907 A G SNP FANCC ENST00000289081 human ensembl 69_37n -1 known silent c.1167 p.G389 0.000 pfam_Fanconi,pirsf_Fanconi pfam_Fanconi,pirsf_Fanconi,prints_Fanconi - no_errors FANCC HGNC ENSG00000158169 41 0 0.00 34 9 20.93 - - - FBXO17 0 genome.wustl.edu 37 19 39433304 39433305 + Frame_Shift_Ins INS - - C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 19 39433304 39433305 - C INS FBXO17 ENST00000292852 human ensembl 69_37n -1 known frame_shift_ins c.781_780 p.H260fs 0.984:0.958 pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom pfam_F-box-assoc_dom,pfam_F-box_dom_cyclin-like,superfamily_Galactose-bd-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_F-box-assoc_dom - no_errors FBXO17 HGNC ENSG00000104835 26 0 0.00 13 2 13.33 - - - FGD5 0 genome.wustl.edu 37 3 14964007 14964007 + Silent SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 3 14964007 14964007 C T SNP FGD5 ENST00000285046 human ensembl 69_37n +1 known silent c.3759 p.C1253 0.853 pfam_Znf_FYVE,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 31 0 0.00 8 5 38.46 - - - FLNC 0 genome.wustl.edu 37 7 128478072 128478072 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 7 128478072 128478072 G A SNP FLNC ENST00000325888 human ensembl 69_37n +1 known missense c.1001 p.R334H 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 55 0 0.00 46 6 11.54 - - - FOXP4 0 genome.wustl.edu 37 6 41557781 41557781 + Frame_Shift_Del DEL C C - TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 6 41557781 41557781 C - DEL FOXP4 ENST00000307972 human ensembl 69_37n +1 known frame_shift_del c.1230 p.P412fs 0.964 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP4 HGNC ENSG00000137166 25 0 0.00 13 5 27.78 - - - FRZB 0 genome.wustl.edu 37 2 183703303 183703303 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 2 183703303 183703303 G A SNP FRZB ENST00000295113 human ensembl 69_37n -1 known missense c.631 p.H211Y 1.000 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors FRZB HGNC ENSG00000162998 46 0 0.00 43 8 15.69 - - - FUT5 0 genome.wustl.edu 37 19 5867314 5867314 + Missense_Mutation SNP C C A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 19 5867314 5867314 C A SNP FUT5 ENST00000252675 human ensembl 69_37n -1 known missense c.423 p.Q141H 0.002 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT5 HGNC ENSG00000130383 36 0 0.00 11 4 26.67 - - - GALNT8 0 genome.wustl.edu 37 12 4870281 4870281 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 12 4870281 4870281 T C SNP GALNT8 ENST00000252318 human ensembl 69_37n +1 known missense c.1331 p.V444A 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 GALNT8 HGNC ENSG00000130035 40 0 0.00 23 4 14.81 - - - GBA3 0 genome.wustl.edu 37 4 22749085 22749085 + Silent SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 4 22749085 22749085 T C SNP GBA3 ENST00000508166 human ensembl 69_37n +1 known silent c.453 p.S151 0.000 NULL NULL - pseudogene GBA3 HGNC ENSG00000249948 72 0 0.00 37 6 13.95 - - - GNLY 0 genome.wustl.edu 37 2 85922455 85922455 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 2 85922455 85922455 C T SNP GNLY ENST00000263863 human ensembl 69_37n +1 known missense c.65 p.S22F 0.288 NULL pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB - no_errors GNLY HGNC ENSG00000115523 56 0 0.00 29 5 14.71 - - - GPM6B 0 genome.wustl.edu 37 X 13835019 13835019 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 X 13835019 13835019 T C SNP GPM6B ENST00000316715 human ensembl 69_37n -1 known missense c.5 p.K2R 1.000 NULL pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors GPM6B HGNC ENSG00000046653 173 0 0.00 78 12 13.33 - - - GPR112 0 genome.wustl.edu 37 X 135441601 135441601 + Silent SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 X 135441601 135441601 A G SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known silent c.7131 p.A2377 0.569 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 51 0 0.00 40 10 20.00 - - - GPR84 0 genome.wustl.edu 37 12 54757017 54757017 + Nonsense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 12 54757017 54757017 G A SNP GPR84 ENST00000267015 human ensembl 69_37n -1 known nonsense c.619 p.R207* 0.014 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR84 HGNC ENSG00000139572 107 0 0.00 44 5 10.00 - - - GPR98 0 genome.wustl.edu 37 5 90151694 90151694 + Missense_Mutation SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 5 90151694 90151694 A G SNP GPR98 ENST00000405460 human ensembl 69_37n +1 known missense c.17731 p.T5911A 1.000 pfscan_GPCR_2-like pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 97 0 0.00 46 13 22.03 - - - HEATR2 0 genome.wustl.edu 37 7 819661 819661 + Missense_Mutation SNP C C G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 7 819661 819661 C G SNP HEATR2 ENST00000297440 human ensembl 69_37n +1 known missense c.2311 p.L771V 1.000 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors HEATR2 HGNC ENSG00000164818 41 0 0.00 38 6 13.64 - - - HGF 0 genome.wustl.edu 37 7 81339534 81339534 + Silent SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 7 81339534 81339534 C T SNP HGF ENST00000222390 human ensembl 69_37n -1 known silent c.1470 p.T490 1.000 superfamily_Pept_cys/ser_Trypsin-like pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 69 0 0.00 58 15 20.55 - - - HGFAC 0 genome.wustl.edu 37 4 3445881 3445881 + Silent SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 4 3445881 3445881 C T SNP HGFAC ENST00000382774 human ensembl 69_37n +1 known silent c.591 p.C197 0.007 pirsf_Coagulation_fac_XIIa/HGFA,smart_EGF-like,pfscan_EG-like_dom pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors HGFAC HGNC ENSG00000109758 9 0 0.00 9 5 35.71 - - - HIST1H2BB 0 genome.wustl.edu 37 6 26043595 26043595 + Silent SNP C C A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 6 26043595 26043595 C A SNP HIST1H2BB ENST00000357905 human ensembl 69_37n -1 known silent c.291 p.T97 0.996 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BB HGNC ENSG00000196226 42 0 0.00 26 4 13.33 - - - HIST3H3 0 genome.wustl.edu 37 1 228612752 228612752 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 228612752 228612752 G A SNP HIST3H3 ENST00000366696 human ensembl 69_37n -1 known missense c.275 p.A92V 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST3H3 HGNC ENSG00000168148 46 0 0.00 28 5 15.15 - - - HNF1A 0 genome.wustl.edu 37 12 121432116 121432117 + Frame_Shift_Ins INS - - C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 12 121432116 121432117 - C INS HNF1A ENST00000257555 human ensembl 69_37n +1 known frame_shift_ins c.863_864 p.P289fs 0.997:0.998 pfam_HNF1b_C,superfamily_Homeodomain-like pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeodomain,pfscan_Homeodomain - no_errors HNF1A HGNC ENSG00000135100 16 0 0.00 11 4 26.67 - - - HOOK3 0 genome.wustl.edu 37 8 42868496 42868497 + Frame_Shift_Ins INS - - AG TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 8 42868496 42868497 - AG INS HOOK3 ENST00000307602 human ensembl 69_37n +1 known frame_shift_ins c.1969_1970 p.M660fs 1.000:1.000 pfam_HOOK pfam_HOOK,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 54 0 0.00 37 6 13.95 - - - HOXD8 0 genome.wustl.edu 37 2 176996277 176996277 + Silent SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 2 176996277 176996277 C T SNP HOXD8 ENST00000313173 human ensembl 69_37n +1 known silent c.810 p.D270 0.972 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXD8 HGNC ENSG00000175879 34 0 0.00 23 7 23.33 - - - HSPA12A 0 genome.wustl.edu 37 10 118458152 118458152 + Silent SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 10 118458152 118458152 C T SNP HSPA12A ENST00000369209 human ensembl 69_37n -1 known silent c.540 p.A180 0.031 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 57 0 0.00 31 9 22.50 - - - HTR1A 0 genome.wustl.edu 37 5 63256897 63256897 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 5 63256897 63256897 C T SNP HTR1A ENST00000323865 human ensembl 69_37n -1 known missense c.650 p.R217H 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT1A_rcpt,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 14 0 0.00 15 5 25.00 - - - HTR1A 0 genome.wustl.edu 37 5 63257403 63257403 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 5 63257403 63257403 G A SNP HTR1A ENST00000323865 human ensembl 69_37n -1 known silent c.144 p.F48 1.000 pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT1A_rcpt,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 33 0 0.00 25 6 19.35 - - - HUWE1 0 genome.wustl.edu 37 X 53589093 53589093 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 X 53589093 53589093 C T SNP HUWE1 ENST00000427052 human ensembl 69_37n -1 known missense c.4417 p.G1473R 1.000 NULL pfam_HECT,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region HUWE1 HGNC ENSG00000086758 72 0 0.00 36 7 16.28 - - - IFIH1 0 genome.wustl.edu 37 2 163130328 163130328 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 2 163130328 163130328 T C SNP IFIH1 ENST00000263642 human ensembl 69_37n -1 known missense c.2431 p.T811A 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_DEATH-like,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors IFIH1 HGNC ENSG00000115267 108 0 0.00 68 11 13.58 - - - IGKV1D-16 0 genome.wustl.edu 37 2 90139529 90139529 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 2 90139529 90139529 G A SNP IGKV1D-16 ENST00000492446 human ensembl 69_37n +1 known silent c.300 p.L100 0.041 pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV1D-16 HGNC ENSG00000241244 111 0 0.00 42 11 20.75 - - - IGLV1-51 0 genome.wustl.edu 37 22 22677326 22677327 + Frame_Shift_Del DEL CA CA - TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 22 22677326 22677327 CA - DEL IGLV1-51 ENST00000390290 human ensembl 69_37n +1 known frame_shift_del c.354_355 p.T119fs 0.993:1.000 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region IGLV1-51 HGNC ENSG00000211644 26 0 0.00 12 6 33.33 - - - IL15 0 genome.wustl.edu 37 4 142651103 142651103 + Missense_Mutation SNP T T A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 4 142651103 142651103 T A SNP IL15 ENST00000296545 human ensembl 69_37n +1 known missense c.344 p.I115N 0.899 pfam_Interleukin_15-like pfam_Interleukin_15-like,prints_Interleukin-15_mammal,prints_Interleukin-15 - no_errors IL15 HGNC ENSG00000164136 69 0 0.00 41 10 19.61 - - - IL17RA 0 genome.wustl.edu 37 22 17583062 17583062 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 22 17583062 17583062 C T SNP IL17RA ENST00000319363 human ensembl 69_37n +1 known missense c.632 p.T211I 0.000 NULL pfam_SEFIR - no_errors IL17RA HGNC ENSG00000177663 56 0 0.00 31 8 20.51 - - - JMJD1C 0 genome.wustl.edu 37 10 64974383 64974383 + Missense_Mutation SNP T T G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 10 64974383 64974383 T G SNP JMJD1C ENST00000399262 human ensembl 69_37n -1 known missense c.1544 p.D515A 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 51 0 0.00 54 7 11.48 - - - KBTBD12 0 genome.wustl.edu 37 3 127642256 127642257 + Frame_Shift_Ins INS - - GT TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 3 127642256 127642257 - GT INS KBTBD12 ENST00000405109 human ensembl 69_37n +1 known frame_shift_ins c.352_353 p.Q121fs 0.000:0.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,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 KBTBD12 HGNC ENSG00000187715 19 0 0.00 22 6 21.43 - - - KCNH2 0 genome.wustl.edu 37 7 150654410 150654410 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 7 150654410 150654410 C T SNP KCNH2 ENST00000262186 human ensembl 69_37n -1 known missense c.1097 p.R366Q 1.000 NULL pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 71 0 0.00 22 7 24.14 - - - KCNK2 0 genome.wustl.edu 37 1 215342695 215342695 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 215342695 215342695 C T SNP KCNK2 ENST00000444842 human ensembl 69_37n +1 known missense c.629 p.T210M 0.997 prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl_TRAAK pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK2 HGNC ENSG00000082482 80 0 0.00 48 14 22.58 - - - KCNMB1 0 genome.wustl.edu 37 5 169805721 169805721 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 5 169805721 169805721 G A SNP KCNMB1 ENST00000274629 human ensembl 69_37n -1 known missense c.563 p.A188V 0.980 pfam_K_chnl_Ca-activ_BK_bsu pfam_K_chnl_Ca-activ_BK_bsu,prints_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB1 HGNC ENSG00000145936 37 0 0.00 14 6 30.00 - - - KIAA0664 0 genome.wustl.edu 37 17 2597292 2597292 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 17 2597292 2597292 T C SNP KIAA0664 ENST00000435359 human ensembl 69_37n -1 known missense c.3016 p.N1006D 1.000 NULL superfamily_GSKIP/TIF31_domain - no_errors KIAA0664 HGNC ENSG00000132361 36 0 0.00 27 4 12.90 - - - KIAA0825 0 genome.wustl.edu 37 5 93727356 93727358 + In_Frame_Del DEL CTC CTC - TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 5 93727356 93727358 CTC - DEL KIAA0825 ENST00000427991 human ensembl 69_37n -1 known in_frame_del c.3340_3338 p.G1113in_frame_del 0.997:1.000:1.000 NULL NULL - no_errors KIAA0825 HGNC ENSG00000185261 79 0 0.00 61 10 14.08 - - - KIAA1211L 0 genome.wustl.edu 37 2 99449325 99449325 + Missense_Mutation SNP C C A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 2 99449325 99449325 C A SNP KIAA1211L ENST00000397899 human ensembl 69_37n -1 known missense c.375 p.Q125H 1.000 NULL NULL - no_errors KIAA1211L HGNC ENSG00000196872 53 0 0.00 53 11 17.19 - - - KIAA1522 0 genome.wustl.edu 37 1 33233495 33233495 + Frame_Shift_Del DEL C C - TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 33233495 33233495 C - DEL KIAA1522 ENST00000401073 human ensembl 69_37n +1 known frame_shift_del c.343 p.H117fs 0.980 NULL NULL - no_errors KIAA1522 HGNC ENSG00000162522 26 0 0.00 16 4 20.00 - - - KIAA1731 0 genome.wustl.edu 37 11 93431088 93431088 + Missense_Mutation SNP T T A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 11 93431088 93431088 T A SNP KIAA1731 ENST00000411936 human ensembl 69_37n +1 known missense c.3010 p.F1004I 0.002 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 22 0 0.00 26 5 16.13 - - - KLF11 0 genome.wustl.edu 37 2 10188309 10188309 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 2 10188309 10188309 C T SNP KLF11 ENST00000305883 human ensembl 69_37n +1 known missense c.845 p.A282V 0.820 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF11 HGNC ENSG00000172059 124 0 0.00 46 6 11.54 - - - KLHL14 0 genome.wustl.edu 37 18 30267118 30267118 + Missense_Mutation SNP C C A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 18 30267118 30267118 C A SNP KLHL14 ENST00000359358 human ensembl 69_37n -1 known missense c.1238 p.R413I 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 60 0 0.00 42 7 14.29 - - - KRT33B 0 genome.wustl.edu 37 17 39525757 39525757 + Silent SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 17 39525757 39525757 C T SNP KRT33B ENST00000251646 human ensembl 69_37n -1 known silent c.246 p.A82 0.741 pfam_F pfam_F,prints_Keratin_I - no_errors KRT33B HGNC ENSG00000131738 80 0 0.00 31 5 13.89 - - - KRT40 0 genome.wustl.edu 37 17 39137136 39137136 + Silent SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 17 39137136 39137136 C T SNP KRT40 ENST00000377755 human ensembl 69_37n -1 known silent c.876 p.L292 0.054 pfam_F pfam_F,prints_Keratin_I - no_errors KRT40 HGNC ENSG00000204889 66 0 0.00 40 8 16.67 - - - LARP1 0 genome.wustl.edu 37 5 154170243 154170243 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 5 154170243 154170243 T C SNP LARP1 ENST00000521577 human ensembl 69_37n +1 known missense c.121 p.W41R 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LARP1 HGNC ENSG00000155506 55 0 0.00 33 5 13.16 - - - LDB2 0 genome.wustl.edu 37 4 16899985 16899985 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 4 16899985 16899985 G A SNP LDB2 ENST00000304523 human ensembl 69_37n -1 known missense c.124 p.R42C 1.000 NULL NULL - no_errors LDB2 HGNC ENSG00000169744 44 0 0.00 35 6 14.63 - - - LEPRE1 0 genome.wustl.edu 37 1 43215952 43215952 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 43215952 43215952 G A SNP LEPRE1 ENST00000236040 human ensembl 69_37n -1 known missense c.1625 p.T542M 0.996 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPRE1 HGNC ENSG00000117385 47 0 0.00 19 6 24.00 - - - LGI1 0 genome.wustl.edu 37 10 95557468 95557468 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 10 95557468 95557468 G A SNP LGI1 ENST00000371418 human ensembl 69_37n +1 known missense c.1582 p.V528M 1.000 pfam_EPTP,superfamily_WD40_repeat_dom,pfscan_EAR pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI1 HGNC ENSG00000108231 29 0 0.00 27 6 18.18 - - - LIN54 0 genome.wustl.edu 37 4 83891570 83891570 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 4 83891570 83891570 T C SNP LIN54 ENST00000340417 human ensembl 69_37n -1 known missense c.861 p.I287M 0.994 NULL pfam_TCR - no_errors LIN54 HGNC ENSG00000189308 94 0 0.00 79 14 15.05 - - - LOXL2 0 genome.wustl.edu 37 8 23198633 23198633 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 8 23198633 23198633 G A SNP LOXL2 ENST00000389131 human ensembl 69_37n -1 known silent c.615 p.Y205 1.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Lysyl_oxidase,prints_Srcr_rcpt - no_errors LOXL2 HGNC ENSG00000134013 40 0 0.00 24 5 17.24 - - - LPA 0 genome.wustl.edu 37 6 161071369 161071369 + Splice_Site SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 6 161071369 161071369 C T SNP LPA ENST00000316300 human ensembl 69_37n -1 known splice_site c.209+1 e2+1 1.000 - - - no_errors LPA HGNC ENSG00000198670 106 0 0.00 42 13 23.64 - - - LPIN2 0 genome.wustl.edu 37 18 2929124 2929124 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 18 2929124 2929124 C T SNP LPIN2 ENST00000261596 human ensembl 69_37n -1 known missense c.1489 p.E497K 1.000 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN2 HGNC ENSG00000101577 95 0 0.00 61 13 17.57 - - - LRP1B 0 genome.wustl.edu 37 2 141607771 141607771 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 2 141607771 141607771 G A SNP LRP1B ENST00000389484 human ensembl 69_37n -1 known silent c.4839 p.F1613 0.570 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 106 0 0.00 63 15 19.23 - - - LRRN1 0 genome.wustl.edu 37 3 3886447 3886447 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 3 3886447 3886447 G A SNP LRRN1 ENST00000319331 human ensembl 69_37n +1 known missense c.122 p.R41H 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRRN1 HGNC ENSG00000175928 45 0 0.00 38 7 15.56 - - - LYZL1 0 genome.wustl.edu 37 10 29580826 29580826 + Silent SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 10 29580826 29580826 T C SNP LYZL1 ENST00000375500 human ensembl 69_37n +1 known silent c.168 p.I56 0.230 NULL pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL1 HGNC ENSG00000120563 43 0 0.00 14 4 22.22 - - - MAN2A2 0 genome.wustl.edu 37 15 91456857 91456857 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 15 91456857 91456857 G A SNP MAN2A2 ENST00000360468 human ensembl 69_37n +1 known missense c.2732 p.R911Q 0.998 pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A2 HGNC ENSG00000196547 18 0 0.00 15 5 25.00 - - - MANEAL 0 genome.wustl.edu 37 1 38265584 38265584 + Silent SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 38265584 38265584 C T SNP MANEAL ENST00000373045 human ensembl 69_37n +1 known silent c.1083 p.G361 1.000 NULL NULL - no_errors MANEAL HGNC ENSG00000185090 35 0 0.00 33 9 21.43 - - - MASTL 0 genome.wustl.edu 37 10 27447506 27447506 + Missense_Mutation SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 10 27447506 27447506 A G SNP MASTL ENST00000375940 human ensembl 69_37n +1 known missense c.215 p.K72R 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MASTL HGNC ENSG00000120539 73 0 0.00 52 16 23.53 - - - MBD1 0 genome.wustl.edu 37 18 47800631 47800631 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 18 47800631 47800631 G A SNP MBD1 ENST00000424334 human ensembl 69_37n -1 known silent c.1224 p.C408 0.854 pfam_Znf_CXXC,pfscan_Znf_CXXC pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC - no_errors MBD1 HGNC ENSG00000141644 23 0 0.00 17 6 26.09 - - - MBD4 0 genome.wustl.edu 37 3 129158619 129158619 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 3 129158619 129158619 C T SNP MBD4 ENST00000249910 human ensembl 69_37n -1 known missense c.58 p.V20I 0.000 pirsf_Me_CpG-bd_MBD4 pfam_Methyl_CpG_DNA-bd,pfam_HhH-GPD_domain,superfamily_DNA-bd_integrase-typ,superfamily_DNA_glycosylase,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MBD4,pfscan_Methyl_CpG_DNA-bd - no_errors MBD4 HGNC ENSG00000129071 23 0 0.00 15 4 21.05 - - - MBOAT1 0 genome.wustl.edu 37 6 20152948 20152948 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 6 20152948 20152948 C T SNP MBOAT1 ENST00000324607 human ensembl 69_37n -1 known missense c.152 p.R51H 1.000 NULL pfam_MBOAT_fam - no_errors MBOAT1 HGNC ENSG00000172197 75 0 0.00 35 5 12.50 - - - MBTPS1 0 genome.wustl.edu 37 16 84088175 84088175 + Missense_Mutation SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 16 84088175 84088175 A G SNP MBTPS1 ENST00000343411 human ensembl 69_37n -1 known missense c.3038 p.V1013A 1.000 NULL pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 36 0 0.00 22 4 15.38 - - - MDN1 0 genome.wustl.edu 37 6 90461233 90461233 + Missense_Mutation SNP C C A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 6 90461233 90461233 C A SNP MDN1 ENST00000369393 human ensembl 69_37n -1 known missense c.3144 p.K1048N 0.984 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 83 0 0.00 41 16 28.07 - - - MED12L 0 genome.wustl.edu 37 3 151095876 151095876 + Silent SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 3 151095876 151095876 C T SNP MED12L ENST00000474524 human ensembl 69_37n +1 known silent c.4288 p.L1430 0.415 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 52 0 0.00 30 6 16.67 - - - MED12L 0 genome.wustl.edu 37 3 151100490 151100490 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 3 151100490 151100490 C T SNP MED12L ENST00000474524 human ensembl 69_37n +1 known missense c.4532 p.A1511V 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 57 0 0.00 30 6 16.67 - - - MEF2D 0 genome.wustl.edu 37 1 156446980 156446980 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 156446980 156446980 T C SNP MEF2D ENST00000348159 human ensembl 69_37n -1 known missense c.679 p.S227G 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2D HGNC ENSG00000116604 41 0 0.00 29 9 23.68 - - - MEGF8 0 genome.wustl.edu 37 19 42853706 42853706 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 19 42853706 42853706 G A SNP MEGF8 ENST00000251268 human ensembl 69_37n +1 known missense c.2354 p.R785H 0.996 NULL pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EGF-like,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 31 0 0.00 23 6 20.69 - - - METAP1D 0 genome.wustl.edu 37 2 172930997 172930997 + Missense_Mutation SNP C C A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 2 172930997 172930997 C A SNP METAP1D ENST00000315796 human ensembl 69_37n +1 known missense c.503 p.P168H 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pept_M24A_MAP1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1 - no_errors METAP1D HGNC ENSG00000172878 107 0 0.00 73 10 12.05 - - - MIPEP 0 genome.wustl.edu 37 13 24460601 24460601 + Silent SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 13 24460601 24460601 A G SNP MIPEP ENST00000382172 human ensembl 69_37n -1 known silent c.234 p.H78 0.000 NULL pfam_Pept_M3A_M3B - no_errors MIPEP HGNC ENSG00000027001 35 0 0.00 35 7 16.67 - - - MIR449B 0 genome.wustl.edu 37 5 54466481 54466481 + RNA SNP T T A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 5 54466481 54466481 T A SNP MIR449B ENST00000384995 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors MIR449B HGNC ENSG00000207728 41 0 0.00 27 7 20.59 - - - MOCS2 0 genome.wustl.edu 37 5 52402960 52402960 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 5 52402960 52402960 C T SNP MOCS2 ENST00000361377 human ensembl 69_37n -1 known missense c.232 p.E78K 0.998 pfam_ThiS/MoaD,superfamily_Mopterin_synth/thiamin_S_b,tigrfam_Mopterin_su_1 pfam_ThiS/MoaD,superfamily_Mopterin_synth/thiamin_S_b,tigrfam_Mopterin_su_1 - no_errors MOCS2 HGNC ENSG00000164172 37 0 0.00 34 5 12.82 - - - MOV10L1 0 genome.wustl.edu 37 22 50584153 50584153 + Silent SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 22 50584153 50584153 C T SNP MOV10L1 ENST00000262794 human ensembl 69_37n +1 known silent c.2541 p.D847 0.077 NULL superfamily_NA-bd_OB-fold-like - no_errors MOV10L1 HGNC ENSG00000073146 50 0 0.00 26 5 16.13 - - - MPP1 0 genome.wustl.edu 37 X 154007615 154007615 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 X 154007615 154007615 T C SNP MPP1 ENST00000369534 human ensembl 69_37n -1 known missense c.1238 p.Q413R 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_Guanylate_kin,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP1 HGNC ENSG00000130830 27 0 0.00 25 5 16.67 - - - MTMR12 0 genome.wustl.edu 37 5 32230235 32230235 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 5 32230235 32230235 G A SNP MTMR12 ENST00000382142 human ensembl 69_37n -1 known silent c.1893 p.I631 0.033 pfam_Myotubularin_assoc pfam_Myotubularin_assoc - no_errors MTMR12 HGNC ENSG00000150712 35 0 0.00 33 4 10.81 - - - MTUS2 0 genome.wustl.edu 37 13 29600608 29600608 + Silent SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 13 29600608 29600608 C T SNP MTUS2 ENST00000431530 human ensembl 69_37n +1 known silent c.1803 p.N601 0.014 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 28 0 0.00 20 7 25.93 - - - MUC12 0 genome.wustl.edu 37 7 100647332 100647333 + Frame_Shift_Ins INS - - A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 7 100647332 100647333 - A INS MUC12 ENST00000379442 human ensembl 69_37n +1 known frame_shift_ins c.13917_13918 p.Q4639fs 0.426:0.340 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 42 0 0.00 8 2 20.00 - - - MYCBP2 0 genome.wustl.edu 37 13 77669522 77669522 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 13 77669522 77669522 C T SNP MYCBP2 ENST00000407578 human ensembl 69_37n -1 known missense c.10170 p.M3390I 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 69 0 0.00 39 6 13.33 - - - MYF6 0 genome.wustl.edu 37 12 81102372 81102372 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 12 81102372 81102372 C T SNP MYF6 ENST00000228641 human ensembl 69_37n +1 known missense c.589 p.L197F 1.000 NULL pfam_Basic,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_Basic,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors MYF6 HGNC ENSG00000111046 28 0 0.00 28 9 24.32 - - - MYH3 0 genome.wustl.edu 37 17 10549037 10549037 + Silent SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 17 10549037 10549037 C T SNP MYH3 ENST00000226209 human ensembl 69_37n -1 known silent c.1128 p.P376 0.001 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH3 HGNC ENSG00000109063 83 0 0.00 28 8 22.22 - - - MYO9A 0 genome.wustl.edu 37 15 72119094 72119094 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 15 72119094 72119094 T C SNP MYO9A ENST00000424560 human ensembl 69_37n -1 known missense c.7687 p.T2563A 1.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 136 0 0.00 76 16 17.39 - - - NCOA2 0 genome.wustl.edu 37 8 71126143 71126143 + Missense_Mutation SNP T T A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 8 71126143 71126143 T A SNP NCOA2 ENST00000452400 human ensembl 69_37n -1 known missense c.254 p.E85V 1.000 superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors NCOA2 HGNC ENSG00000140396 83 0 0.00 89 17 16.04 - - - NCOR1 0 genome.wustl.edu 37 17 15995175 15995175 + Splice_Site SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 17 15995175 15995175 A G SNP NCOR1 ENST00000268712 human ensembl 69_37n -1 known splice_site c.3016+2 e21+2 1.000 - - - no_errors NCOR1 HGNC ENSG00000141027 70 0 0 46 7 13.21 - - - NCOR1 0 genome.wustl.edu 37 17 15995175 15995175 + Splice_Site SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 17 15995175 15995175 A G SNP NCOR1 ENST00000268712 human ensembl 69_37n -1 known splice_site c.3016+2 e21+2 1.000 - - - no_errors NCOR1 HGNC ENSG00000141027 70 0 0.00 46 7 13.21 - - - NEBL 0 genome.wustl.edu 37 10 21097452 21097452 + Silent SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 10 21097452 21097452 C T SNP NEBL ENST00000377122 human ensembl 69_37n -1 known silent c.2748 p.P916 0.649 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 39 0 0.00 27 6 18.18 - - - NEK9 0 genome.wustl.edu 37 14 75572697 75572697 + Nonsense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 14 75572697 75572697 G A SNP NEK9 ENST00000238616 human ensembl 69_37n -1 known nonsense c.1531 p.R511* 1.000 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK9 HGNC ENSG00000119638 96 0 0.00 50 21 29.58 - - - NFRKB 0 genome.wustl.edu 37 11 129739508 129739508 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 11 129739508 129739508 C T SNP NFRKB ENST00000524794 human ensembl 69_37n -1 known missense c.3487 p.V1163M 0.985 NULL NULL - no_errors NFRKB HGNC ENSG00000170322 21 0 0.00 15 5 25.00 - - - NFX1 0 genome.wustl.edu 37 9 33294960 33294960 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 9 33294960 33294960 T C SNP NFX1 ENST00000379540 human ensembl 69_37n +1 known missense c.568 p.C190R 0.604 NULL pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd - no_errors NFX1 HGNC ENSG00000086102 41 0 0.00 23 7 23.33 - - - NIPBL 0 genome.wustl.edu 37 5 36985782 36985782 + Nonsense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 5 36985782 36985782 C T SNP NIPBL ENST00000282516 human ensembl 69_37n +1 known nonsense c.2500 p.R834* 0.999 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 33 0 0.00 39 6 13.04 - - - NKAPL 0 genome.wustl.edu 37 6 28227370 28227370 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 6 28227370 28227370 G A SNP NKAPL ENST00000343684 human ensembl 69_37n +1 known missense c.221 p.R74Q 0.000 NULL pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 19 0 0.00 7 4 36.36 - - - NOS1 0 genome.wustl.edu 37 12 117680511 117680511 + Splice_Site SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 12 117680511 117680511 C T SNP NOS1 ENST00000317775 human ensembl 69_37n -1 known splice_site c.2963-1 e19-1 1.000 - - - no_errors NOS1 HGNC ENSG00000089250 68 0 0.00 46 9 16.36 - - - NPHP4 0 genome.wustl.edu 37 1 5925191 5925191 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 5925191 5925191 C T SNP NPHP4 ENST00000378156 human ensembl 69_37n -1 known missense c.3787 p.A1263T 0.994 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 18 0 0.00 13 6 31.58 - - - NRG3 0 genome.wustl.edu 37 10 83637750 83637750 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 10 83637750 83637750 G A SNP NRG3 ENST00000372142 human ensembl 69_37n +1 known missense c.34 p.V12I 0.035 NULL pfam_Neuregulin_1_C,pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 122 0 0.00 63 16 20.25 - - - NXT2 0 genome.wustl.edu 37 X 108780219 108780219 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 X 108780219 108780219 C T SNP NXT2 ENST00000218004 human ensembl 69_37n +1 known missense c.149 p.T50I 0.000 NULL pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NXT2 HGNC ENSG00000101888 46 0 0.00 17 4 19.05 - - - OCM2 0 genome.wustl.edu 37 7 97616394 97616394 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 7 97616394 97616394 G A SNP OCM2 ENST00000257627 human ensembl 69_37n -1 known missense c.269 p.A90V 0.234 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Parvalbumin smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Parvalbumin - no_errors OCM2 HGNC ENSG00000135175 129 0 0.00 54 11 16.92 - - - ODF1 0 genome.wustl.edu 37 8 103572819 103572819 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 8 103572819 103572819 C T SNP ODF1 ENST00000285402 human ensembl 69_37n +1 known missense c.460 p.R154W 1.000 pfam_Hsp20,superfamily_HSP20-like_chaperone,pfscan_Hsp20 pfam_Hsp20,superfamily_HSP20-like_chaperone,pfscan_Hsp20 - no_errors ODF1 HGNC ENSG00000155087 76 0 0.00 36 7 16.28 - - - ODZ3 0 genome.wustl.edu 37 4 183676017 183676017 + Silent SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 4 183676017 183676017 A G SNP ODZ3 ENST00000406950 human ensembl 69_37n +1 known silent c.4497 p.S1499 0.007 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors ODZ3 HGNC ENSG00000218336 46 0 0.00 32 5 13.51 - - - OPHN1 0 genome.wustl.edu 37 X 67273542 67273542 + Missense_Mutation SNP G G T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 X 67273542 67273542 G T SNP OPHN1 ENST00000355520 human ensembl 69_37n -1 known missense c.2269 p.P757T 0.974 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 98 0 0.00 38 11 22.45 - - - OR10AG1 0 genome.wustl.edu 37 11 55735641 55735641 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 11 55735641 55735641 C T SNP OR10AG1 ENST00000312345 human ensembl 69_37n -1 known missense c.299 p.G100D 0.000 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 OR10AG1 HGNC ENSG00000174970 43 0 0.00 40 14 25.93 - - - OR2T11 0 genome.wustl.edu 37 1 248790131 248790131 + Missense_Mutation SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 248790131 248790131 A G SNP OR2T11 ENST00000330803 human ensembl 69_37n -1 known missense c.299 p.L100P 0.015 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2T11 HGNC ENSG00000183130 24 0 0.00 15 9 37.50 - - - OR4X1 0 genome.wustl.edu 37 11 48285598 48285598 + Missense_Mutation SNP C C A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 11 48285598 48285598 C A SNP OR4X1 ENST00000320048 human ensembl 69_37n +1 known missense c.186 p.S62R 0.996 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4X1 HGNC ENSG00000176567 94 0 0.00 61 9 12.86 - - - OR6X1 0 genome.wustl.edu 37 11 123624868 123624868 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 11 123624868 123624868 C T SNP OR6X1 ENST00000327930 human ensembl 69_37n -1 known missense c.359 p.R120H 1.000 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 OR6X1 HGNC ENSG00000221931 72 0 0.00 39 8 17.02 - - - ORMDL1 0 genome.wustl.edu 37 2 190647159 190647159 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 2 190647159 190647159 T C SNP ORMDL1 ENST00000325795 human ensembl 69_37n -1 known missense c.163 p.I55V 1.000 pfam_ORMDL,pirsf_ORMDL pfam_ORMDL,pirsf_ORMDL - no_errors ORMDL1 HGNC ENSG00000128699 36 0 0.00 24 7 22.58 - - - OSMR 0 genome.wustl.edu 37 5 38886285 38886285 + Silent SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 5 38886285 38886285 T C SNP OSMR ENST00000274276 human ensembl 69_37n +1 known silent c.984 p.T328 0.214 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors OSMR HGNC ENSG00000145623 53 0 0.00 30 4 11.76 - - - PCDHB18 0 genome.wustl.edu 37 5 140615597 140615597 + RNA SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 5 140615597 140615597 C T SNP PCDHB18 ENST00000526308 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors PCDHB18 HGNC ENSG00000146001 37 0 0.00 20 4 16.67 - - - PCDHB2 0 genome.wustl.edu 37 5 140475245 140475245 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 5 140475245 140475245 C T SNP PCDHB2 ENST00000194155 human ensembl 69_37n +1 known missense c.871 p.R291C 0.989 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 30 0 0.00 33 6 15.38 - - - PCDHGA6 0 genome.wustl.edu 37 5 140753950 140753950 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 5 140753950 140753950 G A SNP PCDHGA6 ENST00000517434 human ensembl 69_37n +1 known silent c.300 p.P100 0.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 37 0 0.00 23 7 23.33 - - - PCDHGA9 0 genome.wustl.edu 37 5 140783157 140783157 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 5 140783157 140783157 C T SNP PCDHGA9 ENST00000573521 human ensembl 69_37n +1 known missense c.638 p.T213M 0.962 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC ENSG00000261934 29 0 0.00 18 5 21.74 - - - PCDHGB2 0 genome.wustl.edu 37 5 140741848 140741848 + Nonsense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 5 140741848 140741848 C T SNP PCDHGB2 ENST00000522605 human ensembl 69_37n +1 known nonsense c.2146 p.R716* 0.005 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 48 0 0.00 29 4 12.12 - - - PCDHGC5 0 genome.wustl.edu 37 5 140869817 140869817 + Missense_Mutation SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 5 140869817 140869817 A G SNP PCDHGC5 ENST00000252087 human ensembl 69_37n +1 known missense c.1010 p.Q337R 0.735 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC5 HGNC ENSG00000240764 40 0 0.00 26 4 13.33 - - - PCLO 0 genome.wustl.edu 37 7 82763887 82763887 + Missense_Mutation SNP A A C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 7 82763887 82763887 A C SNP PCLO ENST00000333891 human ensembl 69_37n -1 known missense c.2979 p.S993R 0.000 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 100 0 0.00 34 6 15.00 - - - PCNT 0 genome.wustl.edu 37 21 47863767 47863768 + Frame_Shift_Ins INS - - C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 21 47863767 47863768 - C INS PCNT ENST00000359568 human ensembl 69_37n +1 known frame_shift_ins c.9745_9746 p.T3252fs 0.021:0.023 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 21 0 0.00 11 3 21.43 - - - PDZK1IP1 0 genome.wustl.edu 37 1 47650716 47650716 + Missense_Mutation SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 47650716 47650716 A G SNP PDZK1IP1 ENST00000294338 human ensembl 69_37n -1 known missense c.230 p.V77A 0.155 NULL NULL - no_errors PDZK1IP1 HGNC ENSG00000162366 64 0 0.00 25 7 21.21 - - - PFKFB3 0 genome.wustl.edu 37 10 6245267 6245267 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 10 6245267 6245267 T C SNP PFKFB3 ENST00000379782 human ensembl 69_37n +1 known missense c.44 p.V15A 1.000 pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB3 HGNC ENSG00000170525 12 0 0.00 11 4 26.67 - - - PGM5 0 genome.wustl.edu 37 9 71144508 71144508 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 9 71144508 71144508 T C SNP PGM5 ENST00000396396 human ensembl 69_37n +1 known missense c.1640 p.I547T 0.997 NULL pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 47 0 0.00 26 9 25.71 - - - PHF12 0 genome.wustl.edu 37 17 27239621 27239621 + Missense_Mutation SNP A A T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 17 27239621 27239621 A T SNP PHF12 ENST00000332830 human ensembl 69_37n -1 known missense c.1968 p.D656E 0.987 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 43 0 0.00 34 5 12.82 - - - PIGG 0 genome.wustl.edu 37 4 515734 515734 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 4 515734 515734 C T SNP PIGG ENST00000509768 human ensembl 69_37n +1 novel missense c.1351 p.R451C 0.489 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 66 0 0.00 25 5 16.67 - - - PIGS 0 genome.wustl.edu 37 17 26881988 26881988 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 17 26881988 26881988 G A SNP PIGS ENST00000308360 human ensembl 69_37n -1 known missense c.1273 p.R425W 1.000 pfam_PtdIno-glycan_biosynth_class_S pfam_PtdIno-glycan_biosynth_class_S - no_errors PIGS HGNC ENSG00000087111 40 0 0.00 42 5 10.42 - - - PIK3CA 0 genome.wustl.edu 37 3 178938775 178938775 + Missense_Mutation SNP T T A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 3 178938775 178938775 T A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.2017 p.S673T 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 66 0 0.00 51 9 15.00 - - - PION 0 genome.wustl.edu 37 7 76984734 76984734 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 7 76984734 76984734 C T SNP PION ENST00000257626 human ensembl 69_37n -1 known missense c.1134 p.M378I 0.000 NULL NULL - no_errors PION HGNC ENSG00000186088 52 0 0.00 21 5 19.23 - - - PITPNM2 0 genome.wustl.edu 37 12 123519107 123519107 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 12 123519107 123519107 G A SNP PITPNM2 ENST00000320201 human ensembl 69_37n -1 known missense c.31 p.P11S 1.000 pfam_PI_transfer pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM2 HGNC ENSG00000090975 40 0 0.00 25 6 19.35 - - - PKHD1L1 0 genome.wustl.edu 37 8 110424608 110424608 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 8 110424608 110424608 C T SNP PKHD1L1 ENST00000378402 human ensembl 69_37n +1 known missense c.2200 p.P734S 0.977 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 66 0 0.00 52 9 14.75 - - - PLBD2 0 genome.wustl.edu 37 12 113826338 113826338 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 12 113826338 113826338 G A SNP PLBD2 ENST00000280800 human ensembl 69_37n +1 known silent c.1677 p.P559 0.258 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD2 HGNC ENSG00000151176 31 0 0.00 11 4 26.67 - - - PLOD1 0 genome.wustl.edu 37 1 12030842 12030842 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 12030842 12030842 C T SNP PLOD1 ENST00000376369 human ensembl 69_37n +1 known missense c.2012 p.T671M 1.000 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD1 HGNC ENSG00000083444 36 0 0.00 18 5 21.74 - - - PNPLA7 0 genome.wustl.edu 37 9 140361796 140361796 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 9 140361796 140361796 C T SNP PNPLA7 ENST00000406427 human ensembl 69_37n -1 known missense c.3012 p.M1004I 0.982 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 33 0 0.00 24 5 17.24 - - - PPARG 0 genome.wustl.edu 37 3 12421355 12421355 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 3 12421355 12421355 G A SNP PPARG ENST00000287820 human ensembl 69_37n +1 known missense c.235 p.E79K 1.000 pfam_PPARgamma_N pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_PPARgamma_N,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_1Cnucl_rcpt_G,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors PPARG HGNC ENSG00000132170 57 0 0.00 56 13 18.84 - - - PPAT 0 genome.wustl.edu 37 4 57268337 57268337 + Silent SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 4 57268337 57268337 T C SNP PPAT ENST00000264220 human ensembl 69_37n -1 known silent c.672 p.T224 0.001 pfam_GATase_dom,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans pfam_GATase_dom,pfam_PRibTrfase,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans - no_errors PPAT HGNC ENSG00000128059 102 0 0.00 63 17 21.25 - - - PPFIA3 0 genome.wustl.edu 37 19 49651945 49651945 + Missense_Mutation SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 19 49651945 49651945 A G SNP PPFIA3 ENST00000334186 human ensembl 69_37n +1 known missense c.3034 p.M1012V 1.000 pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 59 0 0.00 36 7 16.28 - - - PPP3CA 0 genome.wustl.edu 37 4 102004357 102004357 + Missense_Mutation SNP T T G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 4 102004357 102004357 T G SNP PPP3CA ENST00000394854 human ensembl 69_37n -1 known missense c.846 p.E282D 1.000 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CA HGNC ENSG00000138814 57 0 0.00 31 5 13.89 - - - PRKCDBP 0 genome.wustl.edu 37 11 6340459 6340459 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 11 6340459 6340459 G A SNP PRKCDBP ENST00000303927 human ensembl 69_37n -1 known silent c.720 p.T240 0.049 NULL NULL - no_errors PRKCDBP HGNC ENSG00000170955 29 0 0.00 19 6 24.00 - - - PROSER1 0 genome.wustl.edu 37 13 39603474 39603474 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 13 39603474 39603474 T C SNP PROSER1 ENST00000350125 human ensembl 69_37n -1 known missense c.153 p.I51M 1.000 NULL NULL - no_errors PROSER1 HGNC ENSG00000120685 73 0 0.00 78 24 23.53 - - - PWP1 0 genome.wustl.edu 37 12 108090359 108090359 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 12 108090359 108090359 C T SNP PWP1 ENST00000412830 human ensembl 69_37n +1 known missense c.611 p.T204I 0.564 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP1 HGNC ENSG00000136045 102 0 0.00 73 9 10.98 - - - RAE1 0 genome.wustl.edu 37 20 55940493 55940493 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 20 55940493 55940493 G A SNP RAE1 ENST00000371242 human ensembl 69_37n +1 known missense c.370 p.A124T 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RAE1 HGNC ENSG00000101146 31 0 0.00 28 5 15.15 - - - RBM33 0 genome.wustl.edu 37 7 155567691 155567691 + Missense_Mutation SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 7 155567691 155567691 A G SNP RBM33 ENST00000401878 human ensembl 69_37n +1 known missense c.3469 p.M1157V 1.000 smart_RRM_dom smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 96 0 0.00 51 9 15.00 - - - RBMXL1 0 genome.wustl.edu 37 1 89448795 89448795 + Nonsense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 89448795 89448795 G A SNP RBMXL1 ENST00000321792 human ensembl 69_37n -1 known nonsense c.715 p.R239* 0.993 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL1 HGNC ENSG00000213516 128 0 0.00 53 12 18.46 - - - RBMXL3 0 genome.wustl.edu 37 X 114425534 114425534 + Silent SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 X 114425534 114425534 T C SNP RBMXL3 ENST00000424776 human ensembl 69_37n +1 known silent c.1530 p.Y510 0.030 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 25 0 0.00 15 5 25.00 - - - REM1 0 genome.wustl.edu 37 20 30064292 30064292 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 20 30064292 30064292 G A SNP REM1 ENST00000201979 human ensembl 69_37n +1 known missense c.44 p.R15Q 0.496 pirsf_Small_GTPase_GEM/REM/Rad pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors REM1 HGNC ENSG00000088320 46 0 0.00 23 6 20.69 - - - RFESD 0 genome.wustl.edu 37 5 94991896 94991896 + Silent SNP T T A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 5 94991896 94991896 T A SNP RFESD ENST00000380005 human ensembl 69_37n +1 known silent c.516 p.I172 1.000 superfamily_Rieske_2Fe-2S pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S - no_errors RFESD HGNC ENSG00000175449 46 0 0.00 42 8 16.00 - - - RGAG4 0 genome.wustl.edu 37 X 71350651 71350651 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 X 71350651 71350651 C T SNP RGAG4 ENST00000479991 human ensembl 69_37n -1 known missense c.740 p.G247D 0.896 pfam_Retrotrans_gag pfam_Retrotrans_gag - no_errors RGAG4 HGNC ENSG00000242732 37 0 0.00 24 4 14.29 - - - RMND1 0 genome.wustl.edu 37 6 151766618 151766618 + Missense_Mutation SNP T T G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 6 151766618 151766618 T G SNP RMND1 ENST00000367303 human ensembl 69_37n -1 known missense c.329 p.K110T 0.113 NULL pfam_DUF155 - no_errors RMND1 HGNC ENSG00000155906 98 0 0.00 56 15 21.13 - - - RNF14 0 genome.wustl.edu 37 5 141359789 141359789 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 5 141359789 141359789 G A SNP RNF14 ENST00000347642 human ensembl 69_37n +1 known silent c.936 p.P312 0.231 pfam_Znf_C6HC,smart_Znf_C6HC pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF14 HGNC ENSG00000013561 38 0 0.00 35 4 10.26 - - - RNF34 0 genome.wustl.edu 37 12 121853973 121853973 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 12 121853973 121853973 G A SNP RNF34 ENST00000392465 human ensembl 69_37n +1 known silent c.21 p.T7 0.007 NULL superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF34 HGNC ENSG00000170633 40 0 0.00 44 6 12.00 - - - RNH1 0 genome.wustl.edu 37 11 502136 502136 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 11 502136 502136 G A SNP RNH1 ENST00000354420 human ensembl 69_37n -1 known silent c.27 p.D9 0.797 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors RNH1 HGNC ENSG00000023191 55 0 0.00 40 6 13.04 - - - ROCK1 0 genome.wustl.edu 37 18 18539823 18539823 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 18 18539823 18539823 G A SNP ROCK1 ENST00000399799 human ensembl 69_37n -1 known missense c.3490 p.P1164S 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ROCK1 HGNC ENSG00000067900 54 0 0.00 61 13 17.57 - - - RPGRIP1L 0 genome.wustl.edu 37 16 53706790 53706792 + In_Frame_Del DEL TTC TTC - TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 16 53706790 53706792 TTC - DEL RPGRIP1L ENST00000379925 human ensembl 69_37n -1 known in_frame_del c.1021_1019 p.R340in_frame_del 0.912:0.872:0.870 NULL pfam_DUF3250,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RPGRIP1L HGNC ENSG00000103494 60 0 0.00 31 13 29.55 - - - RPS6KA3 0 genome.wustl.edu 37 X 20213261 20213261 + Nonsense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 X 20213261 20213261 G A SNP RPS6KA3 ENST00000379565 human ensembl 69_37n -1 known nonsense c.328 p.R110* 1.000 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA3 HGNC ENSG00000177189 82 0 0.00 54 11 16.92 - - - RPUSD1 0 genome.wustl.edu 37 16 837647 837647 + Splice_Site SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 16 837647 837647 T C SNP RPUSD1 ENST00000569601 human ensembl 69_37n -1 putative splice_site c.1-2 e1-2 1.000 - - - no_stop_codon RPUSD1 HGNC ENSG00000007376 14 0 0.00 11 4 26.67 - - - RUNX2 0 genome.wustl.edu 37 6 45399682 45399682 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 6 45399682 45399682 G A SNP RUNX2 ENST00000352853 human ensembl 69_37n +1 known missense c.710 p.R237Q 1.000 pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 80 0 0.00 42 5 10.64 - - - RYR1 0 genome.wustl.edu 37 19 38987176 38987176 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 19 38987176 38987176 G A SNP RYR1 ENST00000359596 human ensembl 69_37n +1 known missense c.6791 p.G2264D 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 23 0 0.00 10 6 37.50 - - - RYR3 0 genome.wustl.edu 37 15 34049768 34049768 + Silent SNP C C A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 15 34049768 34049768 C A SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known silent c.8676 p.A2892 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 100 0 0.00 47 10 17.54 - - - RYR3 0 genome.wustl.edu 37 15 34156378 34156378 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 15 34156378 34156378 G A SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known silent c.14505 p.E4835 0.897 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 66 0 0.00 26 6 18.75 - - - SAE1 0 genome.wustl.edu 37 19 47653513 47653513 + Nonsense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 19 47653513 47653513 C T SNP SAE1 ENST00000270225 human ensembl 69_37n +1 known nonsense c.265 p.R89* 1.000 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like - no_errors SAE1 HGNC ENSG00000142230 62 0 0.00 40 6 13.04 - - - SAMM50 0 genome.wustl.edu 37 22 44385035 44385035 + Missense_Mutation SNP C C A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 22 44385035 44385035 C A SNP SAMM50 ENST00000350028 human ensembl 69_37n +1 known missense c.1120 p.L374I 1.000 pfam_Bac_surfAg_D15 pfam_Bac_surfAg_D15 - no_errors SAMM50 HGNC ENSG00000100347 59 0 0.00 48 12 20.00 - - - SCAF11 0 genome.wustl.edu 37 12 46320516 46320517 + Frame_Shift_Ins INS - - T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 12 46320516 46320517 - T INS SCAF11 ENST00000369367 human ensembl 69_37n -1 known frame_shift_ins c.2968_2967 p.E989fs 0.998:0.794 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 61 0 0.00 65 10 13.33 - - - SEC14L5 0 genome.wustl.edu 37 16 5046950 5046950 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 16 5046950 5046950 G A SNP SEC14L5 ENST00000251170 human ensembl 69_37n +1 known missense c.875 p.R292H 1.000 superfamily_CRAL/TRIO_N_dom pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran - no_errors SEC14L5 HGNC ENSG00000103184 51 0 0.00 31 6 16.22 - - - SEC24C 0 genome.wustl.edu 37 10 75510956 75510956 + Missense_Mutation SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 10 75510956 75510956 A G SNP SEC24C ENST00000339365 human ensembl 69_37n +1 known missense c.263 p.Q88R 1.000 NULL 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 SEC24C HGNC ENSG00000176986 37 0 0.00 17 4 19.05 - - - SEMA4D 0 genome.wustl.edu 37 9 91994160 91994160 + Frame_Shift_Del DEL G G - TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 9 91994160 91994160 G - DEL SEMA4D ENST00000356444 human ensembl 69_37n -1 known frame_shift_del c.2048 p.P683fs 0.000 NULL pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,smart_Ig_sub2,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA4D HGNC ENSG00000187764 42 0 0.00 20 3 12.00 - - - SETBP1 0 genome.wustl.edu 37 18 42532994 42532994 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 18 42532994 42532994 C T SNP SETBP1 ENST00000282030 human ensembl 69_37n +1 known missense c.3689 p.T1230I 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 32 0 0.00 27 9 25.00 - - - SETD1B 0 genome.wustl.edu 37 12 122263255 122263255 + Frame_Shift_Del DEL C C - TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 12 122263255 122263255 C - DEL SETD1B ENST00000267197 human ensembl 69_37n +1 known frame_shift_del c.5191 p.A1733fs 1.000 pfam_COMPASS_Set1_N-SET pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1B HGNC ENSG00000139718 29 0 0.00 12 6 33.33 - - - SETDB2 0 genome.wustl.edu 37 13 50050946 50050946 + Missense_Mutation SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 13 50050946 50050946 A G SNP SETDB2 ENST00000317257 human ensembl 69_37n +1 known missense c.676 p.T226A 1.000 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom - no_errors SETDB2 HGNC ENSG00000136169 58 0 0.00 33 5 13.16 - - - SFN 0 genome.wustl.edu 37 1 27189737 27189737 + Silent SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 27189737 27189737 C T SNP SFN ENST00000339276 human ensembl 69_37n +1 known silent c.34 p.L12 0.985 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors SFN HGNC ENSG00000175793 23 0 0.00 14 7 33.33 - - - SH2B1 0 genome.wustl.edu 37 16 28884971 28884971 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 16 28884971 28884971 G A SNP SH2B1 ENST00000322610 human ensembl 69_37n +1 known missense c.2101 p.V701M 1.000 NULL pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,prints_SH2,pfscan_SH2 - no_errors SH2B1 HGNC ENSG00000178188 70 0 0.00 37 5 11.90 - - - SHISA3 0 genome.wustl.edu 37 4 42403144 42403144 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 4 42403144 42403144 G A SNP SHISA3 ENST00000319234 human ensembl 69_37n +1 known silent c.393 p.Q131 1.000 NULL NULL - no_errors SHISA3 HGNC ENSG00000178343 113 0 0.00 43 9 17.31 - - - SIK3 0 genome.wustl.edu 37 11 116734457 116734457 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 11 116734457 116734457 G A SNP SIK3 ENST00000375300 human ensembl 69_37n -1 known missense c.1886 p.A629V 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors SIK3 HGNC ENSG00000160584 90 0 0.00 43 8 15.69 - - - SIRT3 0 genome.wustl.edu 37 11 233199 233199 + Missense_Mutation SNP G G T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 11 233199 233199 G T SNP SIRT3 ENST00000382743 human ensembl 69_37n -1 known missense c.490 p.L164M 0.936 pfam_NAD-dep_deAcase_sirtuin,pirsf_NAD-dep_deAcase_SIR2_euk,pfscan_NAD-dep_deAcase_sirtuin pfam_NAD-dep_deAcase_sirtuin,pirsf_NAD-dep_deAcase_SIR2_euk,pfscan_NAD-dep_deAcase_sirtuin - no_errors SIRT3 HGNC ENSG00000142082 54 0 0.00 35 7 16.67 - - - SKIV2L2 0 genome.wustl.edu 37 5 54624574 54624574 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 5 54624574 54624574 T C SNP SKIV2L2 ENST00000506750 human ensembl 69_37n +1 known missense c.245 p.V82A 1.000 NULL NULL - no_errors SKIV2L2 HGNC ENSG00000039123 106 0 0.00 85 13 13.27 - - - SLC25A18 0 genome.wustl.edu 37 22 18070764 18070764 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 22 18070764 18070764 G A SNP SLC25A18 ENST00000327451 human ensembl 69_37n +1 known missense c.649 p.G217S 0.742 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A18 HGNC ENSG00000182902 89 0 0.00 49 9 15.52 - - - SLC9A2 0 genome.wustl.edu 37 2 103321037 103321037 + Missense_Mutation SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 2 103321037 103321037 A G SNP SLC9A2 ENST00000233969 human ensembl 69_37n +1 known missense c.1880 p.D627G 1.000 prints_Na/H_exchanger_2,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 60 0 0.00 29 8 21.62 - - - SMAD3 0 genome.wustl.edu 37 15 67358560 67358560 + Missense_Mutation SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 15 67358560 67358560 A G SNP SMAD3 ENST00000327367 human ensembl 69_37n +1 known missense c.68 p.Q23R 1.000 superfamily_MAD_homology_MH1,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD3 HGNC ENSG00000166949 34 0 0.00 22 4 15.38 - - - SMARCC2 0 genome.wustl.edu 37 12 56572801 56572801 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 12 56572801 56572801 C T SNP SMARCC2 ENST00000267064 human ensembl 69_37n -1 known missense c.1121 p.G374D 1.000 superfamily_Chromodomain-like pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 63 0 0.00 45 8 15.09 - - - SMG9 0 genome.wustl.edu 37 19 44252160 44252160 + Frame_Shift_Del DEL G G - TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 19 44252160 44252160 G - DEL SMG9 ENST00000270066 human ensembl 69_37n -1 known frame_shift_del c.195 p.I66fs 1.000 NULL pfam_Smg8/Smg9 - no_errors SMG9 HGNC ENSG00000105771 113 0 0.00 51 8 13.33 - - - SNTG2 0 genome.wustl.edu 37 2 1312322 1312322 + Silent SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 2 1312322 1312322 C T SNP SNTG2 ENST00000308624 human ensembl 69_37n +1 known silent c.1341 p.F447 0.993 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 70 0 0.00 60 9 13.04 - - - SP1 0 genome.wustl.edu 37 12 53775933 53775933 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 12 53775933 53775933 T C SNP SP1 ENST00000327443 human ensembl 69_37n +1 known missense c.202 p.C68R 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP1 HGNC ENSG00000185591 33 0 0.00 17 5 22.73 - - - SPACA7 0 genome.wustl.edu 37 13 113088826 113088826 + Missense_Mutation SNP G G T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 13 113088826 113088826 G T SNP SPACA7 ENST00000283550 human ensembl 69_37n +1 known missense c.551 p.R184M 0.000 NULL NULL - no_errors SPACA7 HGNC ENSG00000153498 40 0 0.00 21 8 27.59 - - - SPAG6 0 genome.wustl.edu 37 10 22680768 22680768 + Silent SNP G G T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 10 22680768 22680768 G T SNP SPAG6 ENST00000376603 human ensembl 69_37n +1 known silent c.1344 p.R448 0.568 superfamily_ARM-type_fold pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo - no_errors SPAG6 HGNC ENSG00000077327 72 0 0.00 50 10 16.67 - - - SPEN 0 genome.wustl.edu 37 1 16256950 16256950 + Frame_Shift_Del DEL T T - TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 16256950 16256950 T - DEL SPEN ENST00000375759 human ensembl 69_37n +1 known frame_shift_del c.4215 p.L1407fs 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 35 0 0.00 29 6 17.14 - - - SPSB2 0 genome.wustl.edu 37 12 6981614 6981615 + Frame_Shift_Ins INS - - G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 12 6981614 6981615 - G INS SPSB2 ENST00000523102 human ensembl 69_37n -1 known frame_shift_ins c.452_451 p.Q151fs 0.000:0.001 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB2 HGNC ENSG00000111671 25 0 0.00 17 4 19.05 - - - SSH3 0 genome.wustl.edu 37 11 67079319 67079319 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 11 67079319 67079319 G A SNP SSH3 ENST00000308127 human ensembl 69_37n +1 known silent c.1941 p.Q647 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH3 HGNC ENSG00000172830 13 0 0.00 7 4 36.36 - - - SSR2 0 genome.wustl.edu 37 1 155984778 155984778 + Missense_Mutation SNP G G T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 155984778 155984778 G T SNP SSR2 ENST00000295702 human ensembl 69_37n -1 known missense c.337 p.L113M 1.000 pfam_TRAP_beta,pirsf_TRAP_beta pfam_TRAP_beta,pirsf_TRAP_beta - no_errors SSR2 HGNC ENSG00000163479 59 0 0.00 43 6 12.24 - - - ST3GAL1 0 genome.wustl.edu 37 8 134477024 134477024 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 8 134477024 134477024 G A SNP ST3GAL1 ENST00000319914 human ensembl 69_37n -1 known missense c.680 p.S227F 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL1 HGNC ENSG00000008513 25 0 0.00 14 4 22.22 - - - STAB2 0 genome.wustl.edu 37 12 104129268 104129268 + Splice_Site SNP G G T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 12 104129268 104129268 G T SNP STAB2 ENST00000388887 human ensembl 69_37n +1 known splice_site c.5461-1 e52-1 0.997 - - - no_errors STAB2 HGNC ENSG00000136011 35 0 0.00 31 7 18.42 - - - STK38L 0 genome.wustl.edu 37 12 27475300 27475300 + Missense_Mutation SNP G G T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 12 27475300 27475300 G T SNP STK38L ENST00000389032 human ensembl 69_37n +1 known missense c.1307 p.W436L 1.000 pfam_Pkinase_C,smart_AGC-kinase_C pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors STK38L HGNC ENSG00000211455 33 0 0.00 35 8 18.60 - - - SUCLA2 0 genome.wustl.edu 37 13 48563103 48563103 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 13 48563103 48563103 G A SNP SUCLA2 ENST00000378654 human ensembl 69_37n -1 known silent c.285 p.V95 1.000 pfam_ATP-grasp_succ-CoA_synth-type,tigrfam_Succ_CoA_synthase_bsu pfam_ATP-grasp_succ-CoA_synth-type,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu - no_errors SUCLA2 HGNC ENSG00000136143 43 0 0.00 36 5 12.20 - - - SUSD2 0 genome.wustl.edu 37 22 24584283 24584283 + Missense_Mutation SNP G G T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 22 24584283 24584283 G T SNP SUSD2 ENST00000358321 human ensembl 69_37n +1 known missense c.2432 p.R811M 0.398 NULL pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Complement_control_module,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 33 0 0.00 21 8 27.59 - - - SV2A 0 genome.wustl.edu 37 1 149884981 149884981 + Frame_Shift_Del DEL C C - TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 149884981 149884981 C - DEL SV2A ENST00000369146 human ensembl 69_37n -1 known frame_shift_del c.412 p.E138fs 0.998 tigrfam_SV2_chordata pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata - no_errors SV2A HGNC ENSG00000159164 26 0 0.00 17 5 22.73 - - - SYCP2L 0 genome.wustl.edu 37 6 10911066 10911066 + Silent SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 6 10911066 10911066 A G SNP SYCP2L ENST00000283141 human ensembl 69_37n +1 known silent c.882 p.S294 0.997 NULL NULL - no_errors SYCP2L HGNC ENSG00000153157 124 0 0.00 81 13 13.83 - - - SYPL1 0 genome.wustl.edu 37 7 105733467 105733467 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 7 105733467 105733467 C T SNP SYPL1 ENST00000464029 human ensembl 69_37n -1 putative missense c.290 p.R97H 0.001 pfam_MARVEL-like_dom pfam_MARVEL-like_dom,prints_Synaptophysin/porin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SYPL1 HGNC ENSG00000008282 40 0 0.00 42 8 16.00 - - - TACC2 0 genome.wustl.edu 37 10 123848088 123848088 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 10 123848088 123848088 G A SNP TACC2 ENST00000334433 human ensembl 69_37n +1 known missense c.5555 p.G1852D 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 38 0 0.00 37 5 11.90 - - - TANC2 0 genome.wustl.edu 37 17 61176555 61176555 + Nonsense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 17 61176555 61176555 C T SNP TANC2 ENST00000580466 human ensembl 69_37n +1 novel nonsense c.76 p.R26* 0.999 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TANC2 HGNC ENSG00000170921 50 0 0.00 30 7 18.92 - - - TANC2 0 genome.wustl.edu 37 17 61498332 61498332 + Silent SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 17 61498332 61498332 A G SNP TANC2 ENST00000424789 human ensembl 69_37n +1 known silent c.4989 p.S1663 0.996 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 43 0 0.00 36 8 18.18 - - - TBC1D25 0 genome.wustl.edu 37 X 48398283 48398283 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 X 48398283 48398283 G A SNP TBC1D25 ENST00000376771 human ensembl 69_37n +1 known missense c.98 p.R33Q 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D25 HGNC ENSG00000068354 13 0 0.00 12 4 25.00 - - - TCERG1 0 genome.wustl.edu 37 5 145883505 145883506 + Frame_Shift_Del DEL GA GA - TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 5 145883505 145883506 GA - DEL TCERG1 ENST00000296702 human ensembl 69_37n +1 known frame_shift_del c.2666_2667 p.E892fs 1.000:0.891 superfamily_FF_domain pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors TCERG1 HGNC ENSG00000113649 58 0 0.00 48 11 18.64 - - - TET3 0 genome.wustl.edu 37 2 74275076 74275076 + Frame_Shift_Del DEL C C - TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 2 74275076 74275076 C - DEL TET3 ENST00000409262 human ensembl 69_37n +1 known frame_shift_del c.1627 p.P544fs 1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 20 0 0.00 10 5 31.25 - - - TGFBR2 0 genome.wustl.edu 37 3 30713659 30713659 + Silent SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 3 30713659 30713659 C T SNP TGFBR2 ENST00000359013 human ensembl 69_37n +1 known silent c.1059 p.H353 0.166 pirsf_Transform_growth_fac-b_typ-2,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom - no_errors TGFBR2 HGNC ENSG00000163513 19 0 0.00 15 5 25.00 - - - THSD7A 0 genome.wustl.edu 37 7 11464340 11464340 + Silent SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 7 11464340 11464340 C T SNP THSD7A ENST00000423059 human ensembl 69_37n -1 known silent c.3366 p.V1122 0.991 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 84 0 0.00 40 10 20.00 - - - TIPRL 0 genome.wustl.edu 37 1 168168159 168168159 + Silent SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 168168159 168168159 T C SNP TIPRL ENST00000367833 human ensembl 69_37n +1 known silent c.615 p.A205 0.921 pfam_TIP41-like pfam_TIP41-like - no_errors TIPRL HGNC ENSG00000143155 53 0 0.00 40 6 13.04 - - - TMC1 0 genome.wustl.edu 37 9 75445589 75445589 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 9 75445589 75445589 G A SNP TMC1 ENST00000297784 human ensembl 69_37n +1 known missense c.2251 p.A751T 0.499 NULL pfam_TMC - no_errors TMC1 HGNC ENSG00000165091 118 0 0.00 90 10 10.00 - - - TMEM185A 0 genome.wustl.edu 37 X 148690503 148690503 + Missense_Mutation SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 X 148690503 148690503 A G SNP TMEM185A ENST00000502900 human ensembl 69_37n -1 known missense c.229 p.C77R 1.000 NULL pfam_TM_Fragile-X-F-assoc - no_errors TMEM185A HGNC ENSG00000155984 54 0 0.00 28 4 12.50 - - - TNRC6B 0 genome.wustl.edu 37 22 40717093 40717093 + Splice_Site SNP G G T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 22 40717093 40717093 G T SNP TNRC6B ENST00000454349 human ensembl 69_37n +1 known splice_site c.4975-1 e22-1 1.000 - - - no_errors TNRC6B HGNC ENSG00000100354 31 0 0.00 32 8 20.00 - - - TOP1MT 0 genome.wustl.edu 37 8 144406751 144406751 + Silent SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 8 144406751 144406751 C T SNP TOP1MT ENST00000329245 human ensembl 69_37n -1 known silent c.720 p.V240 0.122 pfam_TopoI_DNA-bd_euk,superfamily_TopoI_DNA-bd_euk,smart_TopoI_euk pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,superfamily_TopoI_insert_euk,smart_TopoI_euk,prints_TopoI - no_errors TOP1MT HGNC ENSG00000184428 26 0 0.00 14 6 30.00 - - - TRANK1 0 genome.wustl.edu 37 3 36896783 36896783 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 3 36896783 36896783 C T SNP TRANK1 ENST00000429976 human ensembl 69_37n -1 known missense c.4298 p.R1433H 1.000 pfam_UvrD-like_ATP-bd 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 36 0 0.00 13 5 27.78 - - - TRERF1 0 genome.wustl.edu 37 6 42204015 42204015 + Silent SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 6 42204015 42204015 C T SNP TRERF1 ENST00000541110 human ensembl 69_37n -1 known silent c.3054 p.T1018 0.003 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 87 0 0.00 43 8 15.69 - - - TRRAP 0 genome.wustl.edu 37 7 98574180 98574180 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 7 98574180 98574180 G A SNP TRRAP ENST00000456197 human ensembl 69_37n +1 novel missense c.7178 p.R2393H 0.000 NULL pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TRRAP HGNC ENSG00000196367 48 0 0.00 21 4 16.00 - - - TTC16 0 genome.wustl.edu 37 9 130485513 130485513 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 9 130485513 130485513 C T SNP TTC16 ENST00000373289 human ensembl 69_37n +1 known missense c.773 p.A258V 0.272 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC16 HGNC ENSG00000167094 24 0 0.00 11 7 38.89 - - - TTLL8 0 genome.wustl.edu 37 22 50471764 50471764 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 22 50471764 50471764 G A SNP TTLL8 ENST00000266182 human ensembl 69_37n -1 known missense c.1150 p.L384F 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL8 HGNC ENSG00000138892 23 0 0.00 19 6 24.00 - - - TYR 0 genome.wustl.edu 37 11 88911273 88911273 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 11 88911273 88911273 G A SNP TYR ENST00000263321 human ensembl 69_37n +1 known missense c.152 p.G51D 1.000 NULL pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 37 0 0.00 22 12 35.29 - - - TYW1B 0 genome.wustl.edu 37 7 72081768 72081768 + RNA SNP G G T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 7 72081768 72081768 G T SNP TYW1B ENST00000438125 human ensembl 69_37n -1 known rna NULL NULL 0.998 - - - no_errors TYW1B HGNC ENSG00000254184 113 0 0.00 61 9 12.86 - - - UBA6 0 genome.wustl.edu 37 4 68528872 68528872 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 4 68528872 68528872 C T SNP UBA6 ENST00000322244 human ensembl 69_37n -1 known missense c.1022 p.R341H 1.000 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA6 HGNC ENSG00000033178 58 0 0.00 38 5 11.36 - - - UFL1 0 genome.wustl.edu 37 6 97001369 97001369 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 6 97001369 97001369 C T SNP UFL1 ENST00000369278 human ensembl 69_37n +1 known missense c.2375 p.T792M 1.000 NULL pfam_E3_UFM1_ligase_1 - no_errors UFL1 HGNC ENSG00000014123 32 0 0.00 18 6 25.00 - - - USP15 0 genome.wustl.edu 37 12 62786055 62786056 + Frame_Shift_Del DEL TT TT - TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 12 62786055 62786056 TT - DEL USP15 ENST00000280377 human ensembl 69_37n +1 known frame_shift_del c.2308_2309 p.F770fs 1.000:1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP15 HGNC ENSG00000135655 36 0 0.00 38 5 11.36 - - - VPRBP 0 genome.wustl.edu 37 3 51452257 51452257 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 3 51452257 51452257 C T SNP VPRBP ENST00000335891 human ensembl 69_37n -1 known missense c.2311 p.A771T 1.000 superfamily_WD40_repeat_dom,superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors VPRBP HGNC ENSG00000145041 63 0 0.00 27 8 22.86 - - - VPS16 0 genome.wustl.edu 37 20 2840965 2840965 + Silent SNP G G T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 20 2840965 2840965 G T SNP VPS16 ENST00000380445 human ensembl 69_37n +1 known silent c.321 p.L107 0.990 pfam_Vps16_N,pirsf_VPS16 pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16 - no_errors VPS16 HGNC ENSG00000215305 122 1 0.81 50 9 15.25 - - - WBP11 0 genome.wustl.edu 37 12 14948019 14948019 + Missense_Mutation SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 12 14948019 14948019 A G SNP WBP11 ENST00000261167 human ensembl 69_37n -1 known missense c.407 p.V136A 1.000 NULL pfam_WW_dom-bd_prot_11 - no_errors WBP11 HGNC ENSG00000084463 37 0 0.00 32 7 17.95 - - - WDFY3 0 genome.wustl.edu 37 4 85654705 85654705 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 4 85654705 85654705 G A SNP WDFY3 ENST00000295888 human ensembl 69_37n -1 known silent c.7051 p.L2351 1.000 superfamily_Cyclin-like pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 31 0 0.00 28 6 17.65 - - - WDR11 0 genome.wustl.edu 37 10 122643389 122643389 + Missense_Mutation SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 10 122643389 122643389 A G SNP WDR11 ENST00000263461 human ensembl 69_37n +1 known missense c.1837 p.I613V 0.165 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR11 HGNC ENSG00000120008 72 0 0.00 41 16 28.07 - - - WTIP 0 genome.wustl.edu 37 19 34991089 34991089 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 19 34991089 34991089 G A SNP WTIP ENST00000270288 human ensembl 69_37n +1 known missense c.1880 p.G627D 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors WTIP HGNC ENSG00000142279 42 0 0.00 18 5 21.74 - - - WWP2 0 genome.wustl.edu 37 16 69965781 69965781 + Missense_Mutation SNP G G T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 16 69965781 69965781 G T SNP WWP2 ENST00000356003 human ensembl 69_37n +1 known missense c.1670 p.G557V 1.000 superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP - no_errors WWP2 HGNC ENSG00000198373 14 0 0.00 16 6 27.27 - - - XKR6 0 genome.wustl.edu 37 8 10755666 10755666 + Missense_Mutation SNP C C A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 8 10755666 10755666 C A SNP XKR6 ENST00000416569 human ensembl 69_37n -1 known missense c.1722 p.L574F 1.000 NULL pfam_Transport_prot_XK - no_errors XKR6 HGNC ENSG00000171044 23 0 0.00 21 6 22.22 - - - XPO4 0 genome.wustl.edu 37 13 21362688 21362689 + Frame_Shift_Ins INS - - T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 13 21362688 21362689 - T INS XPO4 ENST00000255305 human ensembl 69_37n -1 known frame_shift_ins c.2984_2983 p.I995fs 1.000:1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 47 0 0.00 45 10 18.18 - - - YARS2 0 genome.wustl.edu 37 12 32903765 32903765 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 12 32903765 32903765 G A SNP YARS2 ENST00000324868 human ensembl 69_37n -1 known missense c.991 p.H331Y 1.000 pfam_aa-tRNA-synth_Ic,tigrfam_Tyr-tRNA-synth pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-synth,tigrfam_Tyr-tRNA-synth - no_errors YARS2 HGNC ENSG00000139131 47 0 0.00 47 8 14.55 - - - ZBTB41 0 genome.wustl.edu 37 1 197169434 197169437 + Frame_Shift_Del DEL GAGG GAGG - TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 GAGG GAGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 1 197169434 197169437 GAGG - DEL ZBTB41 ENST00000367405 human ensembl 69_37n -1 known frame_shift_del c.170_167 p.P56fs 0.998:1.000:0.998:1.000 NULL 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 ZBTB41 HGNC ENSG00000177888 39 0 0.00 28 6 17.65 - - - ZCCHC2 0 genome.wustl.edu 37 18 60207019 60207019 + Nonsense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 18 60207019 60207019 C T SNP ZCCHC2 ENST00000269499 human ensembl 69_37n +1 known nonsense c.1045 p.R349* 1.000 superfamily_Phox pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC2 HGNC ENSG00000141664 51 0 0.00 59 9 13.24 - - - ZHX1 0 genome.wustl.edu 37 8 124267675 124267675 + Missense_Mutation SNP A A G TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 8 124267675 124267675 A G SNP ZHX1 ENST00000297857 human ensembl 69_37n -1 known missense c.512 p.V171A 0.095 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ENSG00000165156 46 0 0.00 37 6 13.95 - - - ZMYND8 0 genome.wustl.edu 37 20 45855964 45855964 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 20 45855964 45855964 C T SNP ZMYND8 ENST00000536340 human ensembl 69_37n -1 known missense c.3019 p.E1007K 1.000 NULL pfam_DUF3544,pfam_Bromodomain,pfam_PWWP,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ENSG00000101040 120 0 0.00 55 16 22.54 - - - ZNF12 0 genome.wustl.edu 37 7 6730908 6730908 + Silent SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 7 6730908 6730908 T C SNP ZNF12 ENST00000405858 human ensembl 69_37n -1 known silent c.1665 p.G555 0.988 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 ZNF12 HGNC ENSG00000164631 40 0 0.00 33 6 15.38 - - - ZNF132 0 genome.wustl.edu 37 19 58946279 58946279 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 19 58946279 58946279 C T SNP ZNF132 ENST00000254166 human ensembl 69_37n -1 known missense c.532 p.A178T 0.000 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 ZNF132 HGNC ENSG00000131849 56 0 0.00 33 10 23.26 - - - ZNF292 0 genome.wustl.edu 37 6 87966306 87966306 + Nonsense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 6 87966306 87966306 C T SNP ZNF292 ENST00000369577 human ensembl 69_37n +1 known nonsense c.2959 p.Q987* 0.997 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 33 0 0.00 21 4 16.00 - - - ZNF415 0 genome.wustl.edu 37 19 53612925 53612925 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 19 53612925 53612925 G A SNP ZNF415 ENST00000448501 human ensembl 69_37n -1 known missense c.517 p.R173C 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 - no_errors ZNF415 HGNC ENSG00000170954 74 0 0.00 38 8 17.39 - - - ZNF608 0 genome.wustl.edu 37 5 123984089 123984089 + Frame_Shift_Del DEL T T - TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 5 123984089 123984089 T - DEL ZNF608 ENST00000306315 human ensembl 69_37n -1 known frame_shift_del c.1988 p.K663fs 1.000 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 48 0 0.00 25 4 13.79 - - - ZNF780B 0 genome.wustl.edu 37 19 40542427 40542427 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 19 40542427 40542427 G A SNP ZNF780B ENST00000434248 human ensembl 69_37n -1 known silent c.339 p.L113 0.002 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 ZNF780B HGNC ENSG00000128000 58 0 0.00 54 12 18.18 - - - ZNF830 0 genome.wustl.edu 37 17 33289332 33289332 + Frame_Shift_Del DEL T T - TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 17 33289332 33289332 T - DEL ZNF830 ENST00000361952 human ensembl 69_37n +1 known frame_shift_del c.747 p.F251fs 0.993 NULL smart_Znf_U1 - no_errors ZNF830 HGNC ENSG00000198783 28 0 0.00 19 7 25.00 - - - ZSCAN12 0 genome.wustl.edu 37 6 28359098 28359098 + Missense_Mutation SNP T T C TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 6 28359098 28359098 T C SNP ZSCAN12 ENST00000361028 human ensembl 69_37n -1 known missense c.969 p.I323M 0.290 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN12 HGNC ENSG00000158691 54 0 0.00 41 5 10.87 - - - ZZEF1 0 genome.wustl.edu 37 17 3919737 3919737 + Silent SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 18db4143-48cc-424c-8d23-46cf23056528 e528b9ef-53e6-49d4-a86c-648a752d1835 17 3919737 3919737 G A SNP ZZEF1 ENST00000381638 human ensembl 69_37n -1 known silent c.8025 p.G2675 1.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 50 0 0.00 29 6 17.14 - - -