Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABCA10 0 genome.wustl.edu 37 17 67218779 67218780 + Frame_Shift_Ins INS - - T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 17 67218779 67218780 - T INS ABCA10 ENST00000269081 human ensembl 74_37 -1 known frame_shift_ins c.94_93 p.Y31fs 0.000:0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 tier1 77 0 0.00 76 37 32.74 ABCC8 0 genome.wustl.edu 37 11 17418754 17418754 + Missense_Mutation SNP T T G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 11 17418754 17418754 T G SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known missense c.3977 p.Y1326S 1.000 superfamily_P-loop_NTPase pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 tier1 - - 53 0 0.00 15 14 48.28 ACACA 0 genome.wustl.edu 37 17 35518913 35518913 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 17 35518913 35518913 C T SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.5131 p.G1711S 0.801 pfam_Carboxyl_trans pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 tier1 - - 33 0 0.00 35 21 37.50 ADAR 0 genome.wustl.edu 37 1 154562755 154562755 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 154562755 154562755 G A SNP ADAR ENST00000292205 human ensembl 74_37 -1 known missense c.2530 p.R844C 1.000 NULL pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 tier1 - - 86 0 0.00 50 34 40.48 ADAR 0 genome.wustl.edu 37 1 154569329 154569329 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 154569329 154569329 G T SNP ADAR ENST00000292205 human ensembl 74_37 -1 known missense c.2351 p.A784D 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 95 0 0.00 67 4 5.63 ADCY9 0 genome.wustl.edu 37 16 4016810 4016810 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 16 4016810 4016810 C T SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known missense c.3028 p.G1010R 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 tier1 - - 52 0 0.00 22 22 50.00 ADRA1A 0 genome.wustl.edu 37 8 26721736 26721736 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 8 26721736 26721736 C T SNP ADRA1A ENST00000380586 human ensembl 74_37 -1 known missense c.751 p.A251T 0.048 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 69 0 0.00 36 2 5.26 AHCTF1 0 genome.wustl.edu 37 1 247016531 247016531 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 247016531 247016531 C A SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known missense c.4452 p.E1484D 0.845 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 tier1 - - 27 0 0.00 15 14 48.28 AKAP6 0 genome.wustl.edu 37 14 32902973 32902973 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 14 32902973 32902973 C A SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known missense c.274 p.Q92K 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 36 0 0.00 28 2 6.67 ALMS1 0 genome.wustl.edu 37 2 73677770 73677770 + Silent SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 2 73677770 73677770 C A SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known silent c.4113 p.G1371 0.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 tier1 - - 47 0 0.00 46 26 36.11 ALOX5 0 genome.wustl.edu 37 10 45920427 45920427 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 10 45920427 45920427 G T SNP ALOX5 ENST00000374391 human ensembl 74_37 +1 known missense c.681 p.W227C 1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom - no_errors ALOX5 HGNC ENSG00000012779 tier1 - - 60 0 0.00 36 4 10.00 AMT 0 genome.wustl.edu 37 3 49459414 49459414 + Splice_Site SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 49459414 49459414 C T SNP AMT ENST00000546031 human ensembl 74_37 -1 known splice_site c.1+1 e0+1 0.001 - - - no_errors AMT HGNC ENSG00000145020 tier1 - - 34 0 0.00 15 13 46.43 ANKRD11 0 genome.wustl.edu 37 16 89351637 89351637 + Frame_Shift_Del DEL T T - TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 16 89351637 89351637 T - DEL ANKRD11 ENST00000301030 human ensembl 74_37 -1 known frame_shift_del c.1313 p.K438fs 0.636 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 tier1 16 0 0.00 6 5 45.45 ANKRD20A5P 0 genome.wustl.edu 37 18 14225656 14225657 + RNA INS - - A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 18 14225656 14225657 - A INS ANKRD20A5P ENST00000577614 human ensembl 74_37 +1 known rna NULL NULL 0.354:0.398 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 tier1 61 0 0.00 76 26 25.49 ANKRD27 0 genome.wustl.edu 37 19 33095327 33095327 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 33095327 33095327 C A SNP ANKRD27 ENST00000306065 human ensembl 74_37 -1 known missense c.2497 p.G833W 0.997 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt - no_errors ANKRD27 HGNC ENSG00000105186 54 0 0.00 33 2 5.71 ANKRD49 0 genome.wustl.edu 37 11 94231249 94231249 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 11 94231249 94231249 C T SNP ANKRD49 ENST00000302755 human ensembl 74_37 +1 known missense c.271 p.R91W 0.019 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD49 HGNC ENSG00000168876 35 0 0.00 20 2 9.09 ANO2 0 genome.wustl.edu 37 12 5848531 5848531 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 12 5848531 5848531 C A SNP ANO2 ENST00000356134 human ensembl 74_37 -1 known missense c.1377 p.Q459H 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 tier1 - - 57 0 0.00 55 4 6.67 ANXA4 0 genome.wustl.edu 37 2 70033579 70033579 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 2 70033579 70033579 G T SNP ANXA4 ENST00000394295 human ensembl 74_37 +1 known missense c.255 p.M85I 1.000 smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV,prints_AnnexinV - no_errors ANXA4 HGNC ENSG00000196975 tier1 - - 53 0 0.00 43 4 8.51 AOX2P 0 genome.wustl.edu 37 2 201619758 201619759 + RNA DEL TG TG - TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 2 201619758 201619759 TG - DEL AOX2P ENST00000472376 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors AOX2P HGNC ENSG00000243478 tier1 20 0 0.00 23 3 11.54 AP2A1 0 genome.wustl.edu 37 19 50285877 50285877 + Silent SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 50285877 50285877 C A SNP AP2A1 ENST00000354293 human ensembl 74_37 +1 known silent c.369 p.R123 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,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_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 tier1 - - 81 0 0.00 37 4 9.76 AP5M1 0 genome.wustl.edu 37 14 57752991 57752991 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 14 57752991 57752991 G T SNP AP5M1 ENST00000261558 human ensembl 74_37 +1 known missense c.1344 p.Q448H 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 tier1 - - 28 0 0.00 51 4 7.27 AQPEP 0 genome.wustl.edu 37 5 115298449 115298449 + Silent SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 5 115298449 115298449 G A SNP AQPEP ENST00000357872 human ensembl 74_37 +1 known silent c.135 p.P45 0.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_gn ENSG00000172901 11 0 0.00 5 3 37.50 ARHGAP12 0 genome.wustl.edu 37 10 32109333 32109333 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 10 32109333 32109333 G T SNP ARHGAP12 ENST00000344936 human ensembl 74_37 -1 known missense c.1614 p.S538R 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP12 HGNC ENSG00000165322 32 0 0.00 53 4 7.02 ARHGAP26 0 genome.wustl.edu 37 5 142603672 142603673 + RNA INS - - T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 5 142603672 142603673 - T INS ARHGAP26 ENST00000486650 human ensembl 74_37 +1 known rna NULL NULL 0.938:0.929 - - - no_errors ARHGAP26 HGNC ENSG00000145819 tier1 27 0 0.00 42 5 10.64 ARHGEF18 0 genome.wustl.edu 37 19 7505040 7505040 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 7505040 7505040 C T SNP ARHGEF18 ENST00000359920 human ensembl 74_37 +1 known missense c.214 p.R72C 0.074 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ENSG00000104880 tier1 - - 104 0 0.00 41 29 41.43 ASPH 0 genome.wustl.edu 37 8 62577903 62577903 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 8 62577903 62577903 C T SNP ASPH ENST00000389204 human ensembl 74_37 -1 known missense c.585 p.M195I 0.000 pfam_Asp-B-hydro/Triadin_dom pfam_Asp-B-hydro/Triadin_dom - no_errors ASPH HGNC ENSG00000198363 tier1 - - 32 0 0.00 51 21 29.17 ASPSCR1 0 genome.wustl.edu 37 17 79954650 79954650 + Silent SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 17 79954650 79954650 G A SNP ASPSCR1 ENST00000306729 human ensembl 74_37 +1 known silent c.861 p.S287 0.314 NULL pfam_TUG/UBX4,pfam_UBX,pfscan_UBX - no_errors ASPSCR1 HGNC ENSG00000169696 tier1 - - 212 0 0.00 66 37 35.92 ATAD2B 0 genome.wustl.edu 37 2 24090761 24090761 + Silent SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 2 24090761 24090761 G T SNP ATAD2B ENST00000238789 human ensembl 74_37 -1 known silent c.1132 p.R378 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2B HGNC ENSG00000119778 46 0 0.00 76 4 5.00 ATCAY 0 genome.wustl.edu 37 19 3907828 3907828 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 3907828 3907828 G A SNP ATCAY ENST00000301260 human ensembl 74_37 +1 known missense c.455 p.R152H 1.000 pfam_Bcl2-/adenovirus-E1B pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors ATCAY HGNC ENSG00000167654 tier1 - - 206 0 0.00 61 38 38.38 ATF7IP2 0 genome.wustl.edu 37 16 10575953 10575953 + Silent SNP T T A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 16 10575953 10575953 T A SNP ATF7IP2 ENST00000356427 human ensembl 74_37 +1 known silent c.1896 p.I632 0.996 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors ATF7IP2 HGNC ENSG00000166669 tier1 - - 30 0 0.00 48 20 29.41 ATP5D 0 genome.wustl.edu 37 19 1244157 1244157 + Silent SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 1244157 1244157 C A SNP ATP5D ENST00000215375 human ensembl 74_37 +1 known silent c.357 p.A119 0.002 pfam_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_N,tigrfam_ATPase_F1-cplx_dsu/esu pfam_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1_dsu/esu_C,tigrfam_ATPase_F1-cplx_dsu/esu - no_errors ATP5D HGNC ENSG00000099624 tier1 - - 180 0 0.00 65 24 26.67 ATP5F1 0 genome.wustl.edu 37 1 111996969 111996969 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 111996969 111996969 G T SNP ATP5F1 ENST00000369722 human ensembl 74_37 +1 known missense c.214 p.G72C 1.000 NULL pfam_ATPase_B_chain/sub_B/MI25 - no_errors ATP5F1 HGNC ENSG00000116459 32 0 0.00 32 2 5.88 ATP9A 0 genome.wustl.edu 37 20 50287676 50287676 + Silent SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 20 50287676 50287676 C T SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known silent c.1158 p.S386 0.016 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9A HGNC ENSG00000054793 tier1 - - 33 0 0.00 22 15 40.54 ATXN1 0 genome.wustl.edu 37 6 16328464 16328464 + Silent SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 16328464 16328464 G A SNP ATXN1 ENST00000244769 human ensembl 74_37 -1 known silent c.78 p.S26 0.001 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 tier1 - - 50 0 0.00 16 6 27.27 BDP1 0 genome.wustl.edu 37 5 70791147 70791147 + Nonsense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 5 70791147 70791147 G T SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known nonsense c.1711 p.E571* 0.045 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 tier1 - - 35 0 0.00 57 4 6.56 BEND4 0 genome.wustl.edu 37 4 42153694 42153694 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 4 42153694 42153694 G T SNP BEND4 ENST00000502486 human ensembl 74_37 -1 known missense c.467 p.A156D 1.000 NULL pfam_BEN_domain - no_errors BEND4 HGNC ENSG00000188848 tier1 - - 15 0 0.00 9 4 30.77 BIRC3 0 genome.wustl.edu 37 11 102198860 102198860 + Missense_Mutation SNP A A G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 11 102198860 102198860 A G SNP BIRC3 ENST00000263464 human ensembl 74_37 +1 known missense c.1031 p.Q344R 1.000 NULL pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC3 HGNC ENSG00000023445 38 0 0.00 63 4 5.88 BMX 0 genome.wustl.edu 37 X 15549481 15549481 + Missense_Mutation SNP T T A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc X 15549481 15549481 T A SNP BMX ENST00000342014 human ensembl 74_37 +1 known missense c.970 p.S324T 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif - no_errors BMX HGNC ENSG00000102010 tier1 - - 41 0 0.00 21 27 56.25 BOLA1 0 genome.wustl.edu 37 1 149871805 149871805 + Nonsense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 149871805 149871805 G T SNP BOLA1 ENST00000369150 human ensembl 74_37 +1 known nonsense c.193 p.E65* 1.000 pfam_BolA,superfamily_BolA pfam_BolA,superfamily_BolA - no_errors BOLA1 HGNC ENSG00000178096 72 0 0.00 36 2 5.26 BRPF1 0 genome.wustl.edu 37 3 9788006 9788006 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 9788006 9788006 G A SNP BRPF1 ENST00000383829 human ensembl 74_37 +1 known missense c.3347 p.R1116Q 1.000 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 tier1 - - 93 0 0.00 53 9 14.52 BTNL9 0 genome.wustl.edu 37 5 180480869 180480869 + RNA SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 5 180480869 180480869 C T SNP BTNL9 ENST00000511589 human ensembl 74_37 +1 putative rna NULL NULL 0.003 - - - no_errors BTNL9 HGNC ENSG00000165810 tier1 - - 97 0 0.00 21 18 46.15 C11orf70 0 genome.wustl.edu 37 11 101946692 101946692 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 11 101946692 101946692 G A SNP C11orf70 ENST00000434758 human ensembl 74_37 +1 known missense c.524 p.C175Y 1.000 NULL NULL - no_errors C11orf70 HGNC ENSG00000137691 tier1 - - 38 0 0.00 49 17 25.76 C12orf66 0 genome.wustl.edu 37 12 64609598 64609598 + Silent SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 12 64609598 64609598 C T SNP C12orf66 ENST00000398055 human ensembl 74_37 -1 known silent c.381 p.E127 1.000 pfam_DUF2003 pfam_DUF2003 - no_errors C12orf66 HGNC ENSG00000174206 tier1 - - 58 0 0.00 21 18 46.15 C14orf37 0 genome.wustl.edu 37 14 58471477 58471477 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 14 58471477 58471477 C A SNP C14orf37 ENST00000267485 human ensembl 74_37 -1 known missense c.2302 p.D768Y 1.000 NULL NULL - no_errors C14orf37 HGNC ENSG00000139971 tier1 - - 40 0 0.00 46 57 55.34 C15orf52 0 genome.wustl.edu 37 15 40631782 40631782 + Frame_Shift_Del DEL C C - TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 15 40631782 40631782 C - DEL C15orf52 ENST00000559313 human ensembl 74_37 -1 known frame_shift_del c.294 p.M99fs 0.991 NULL NULL - no_errors C15orf52 HGNC ENSG00000188549 tier1 36 0 0.00 23 2 8.00 C17orf80 0 genome.wustl.edu 37 17 71231802 71231802 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 17 71231802 71231802 G T SNP C17orf80 ENST00000359042 human ensembl 74_37 +1 known missense c.181 p.D61Y 0.002 NULL NULL - no_errors C17orf80 HGNC ENSG00000141219 tier1 - - 38 0 0.00 36 27 42.86 C18orf42 0 genome.wustl.edu 37 18 5145660 5145660 + Silent SNP G G C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 18 5145660 5145660 G C SNP C18orf42 ENST00000434239 human ensembl 74_37 -1 known silent c.111 p.V37 1.000 pfam_Kinase-A_anchor_RI-RII-bd_dom pfam_Kinase-A_anchor_RI-RII-bd_dom - no_errors C18orf42 HGNC ENSG00000231824 tier1 - - 38 0 0.00 23 14 37.84 C5orf20 0 genome.wustl.edu 37 5 134782217 134782217 + Nonsense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 5 134782217 134782217 C T SNP C5orf20 ENST00000503143 human ensembl 74_37 -1 known nonsense c.582 p.W194* 0.000 NULL NULL - no_errors C5orf20 HGNC ENSG00000251380 tier1 - - 70 0 0.00 25 17 40.48 CACNA1C 0 genome.wustl.edu 37 12 2693763 2693763 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 12 2693763 2693763 G T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.2319 p.K773N 0.955 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 tier1 - - 52 0 0.00 30 27 47.37 CACNA2D3 0 genome.wustl.edu 37 3 55038855 55038855 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 55038855 55038855 G T SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known missense c.2756 p.G919V 0.122 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 tier1 - - 42 0 0.00 42 4 8.70 CATSPERG 0 genome.wustl.edu 37 19 38845408 38845408 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 38845408 38845408 C T SNP CATSPERG ENST00000312265 human ensembl 74_37 +1 known missense c.854 p.S285F 0.079 NULL NULL - no_errors CATSPERG HGNC ENSG00000099338 tier1 - - 71 0 0.00 40 25 38.46 CCDC116 0 genome.wustl.edu 37 22 21991274 21991274 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 22 21991274 21991274 G T SNP CCDC116 ENST00000292779 human ensembl 74_37 +1 known missense c.1757 p.R586L 0.000 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 38 0 0.00 37 2 5.13 CCDC178 0 genome.wustl.edu 37 18 30926332 30926332 + Silent SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 18 30926332 30926332 G T SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known silent c.501 p.L167 0.093 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 16 0 0.00 25 2 7.41 CCDC180 0 genome.wustl.edu 37 9 100092636 100092636 + Frame_Shift_Del DEL A A - TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 9 100092636 100092636 A - DEL CCDC180 ENST00000375202 human ensembl 74_37 +1 known frame_shift_del c.1993 p.K666fs 0.001 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 tier1 42 0 0.00 26 17 39.53 CCDC80 0 genome.wustl.edu 37 3 112324432 112324432 + Silent SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 112324432 112324432 C T SNP CCDC80 ENST00000206423 human ensembl 74_37 -1 known silent c.2685 p.S895 0.843 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 tier1 - - 51 0 0.00 38 23 37.70 CCDC93 0 genome.wustl.edu 37 2 118704391 118704391 + Missense_Mutation SNP T T A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 2 118704391 118704391 T A SNP CCDC93 ENST00000376300 human ensembl 74_37 -1 known missense c.1292 p.E431V 0.898 NULL pfam_DUF2037 - no_errors CCDC93 HGNC ENSG00000125633 tier1 - - 40 0 0.00 35 17 32.69 CD163L1 0 genome.wustl.edu 37 12 7528563 7528563 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 12 7528563 7528563 G T SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.2419 p.R807S 0.824 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 17 0 0.00 22 2 8.33 CD244 0 genome.wustl.edu 37 1 160811229 160811229 + Silent SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 160811229 160811229 G A SNP CD244 ENST00000368033 human ensembl 74_37 -1 known silent c.441 p.D147 0.000 pfscan_Ig-like_dom pfam_NK_rcpt_2B4_Ig_dom,pfscan_Ig-like_dom - no_errors CD244 HGNC ENSG00000122223 tier1 - - 35 0 0.00 19 10 34.48 CD33 0 genome.wustl.edu 37 19 51728475 51728475 + Silent SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 51728475 51728475 G T SNP CD33 ENST00000262262 human ensembl 74_37 +1 known silent c.39 p.G13 0.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD33 HGNC ENSG00000105383 tier1 - - 76 0 0.00 25 12 32.43 CD46 0 genome.wustl.edu 37 1 207943560 207943560 + RNA SNP T T A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 207943560 207943560 T A SNP CD46 ENST00000469535 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CD46 HGNC ENSG00000117335 tier1 - - 161 0 0.00 204 69 25.18 CDH23 0 genome.wustl.edu 37 10 73199634 73199634 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 10 73199634 73199634 G T SNP CDH23 ENST00000461841 human ensembl 74_37 +1 known missense c.181 p.V61L 0.419 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 tier1 - - 62 0 0.00 37 4 9.76 CELSR1 0 genome.wustl.edu 37 22 46787549 46787549 + Silent SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 22 46787549 46787549 G A SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known silent c.6129 p.V2043 1.000 smart_EGF_laminin,pfscan_EGF_laminin,pfscan_GPCR_2_extracellular_dom pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 tier1 - - 94 0 0.00 48 5 9.43 CEP192 0 genome.wustl.edu 37 18 13049675 13049675 + Missense_Mutation SNP A A G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 18 13049675 13049675 A G SNP CEP192 ENST00000506447 human ensembl 74_37 +1 known missense c.2885 p.N962S 0.003 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 tier1 - - 43 0 0.00 57 38 40.00 CFTR 0 genome.wustl.edu 37 7 117246747 117246747 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 7 117246747 117246747 C A SNP CFTR ENST00000003084 human ensembl 74_37 +1 known missense c.2928 p.F976L 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 tier1 - - 39 0 0.00 40 23 36.51 CHD6 0 genome.wustl.edu 37 20 40033753 40033753 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 20 40033753 40033753 G T SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.7628 p.A2543E 0.953 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 tier1 - - 30 0 0.00 17 9 34.62 CHSY1 0 genome.wustl.edu 37 15 101775550 101775550 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 15 101775550 101775550 G T SNP CHSY1 ENST00000254190 human ensembl 74_37 -1 known missense c.553 p.L185M 1.000 pfam_Fringe-like pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY1 HGNC ENSG00000131873 tier1 - - 50 0 0.00 47 4 7.69 CILP 0 genome.wustl.edu 37 15 65499281 65499281 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 15 65499281 65499281 C T SNP CILP ENST00000261883 human ensembl 74_37 -1 known missense c.263 p.R88H 0.338 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP HGNC ENSG00000138615 tier1 - - 84 0 0.00 49 4 7.55 CLEC16A 0 genome.wustl.edu 37 16 11097121 11097121 + Missense_Mutation SNP A A C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 16 11097121 11097121 A C SNP CLEC16A ENST00000409790 human ensembl 74_37 +1 known missense c.1262 p.E421A 1.000 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 tier1 - - 108 0 0.00 46 20 30.30 CLSTN3 0 genome.wustl.edu 37 12 7308935 7308936 + RNA DEL TG TG - TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 12 7308935 7308936 TG - DEL CLSTN3 ENST00000331148 human ensembl 74_37 +1 known rna NULL NULL 0.062:0.004 - - - no_errors CLSTN3 HGNC ENSG00000139182 tier1 39 0 0.00 32 2 5.88 CNOT3 0 genome.wustl.edu 37 19 54652456 54652456 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 54652456 54652456 C A SNP CNOT3 ENST00000221232 human ensembl 74_37 +1 known missense c.1384 p.H462N 1.000 pirsf_CCR4-NOT_su3/5 pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5 - no_errors CNOT3 HGNC ENSG00000088038 tier1 - - 95 0 0.00 38 4 9.52 COL11A1 0 genome.wustl.edu 37 1 103355076 103355076 + Missense_Mutation SNP G G C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 103355076 103355076 G C SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.4435 p.Q1479E 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 tier1 - - 89 0 0.00 80 45 35.71 CORO2B 0 genome.wustl.edu 37 15 69003150 69003150 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 15 69003150 69003150 G A SNP CORO2B ENST00000566799 human ensembl 74_37 +1 known missense c.413 p.R138Q 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO2B HGNC ENSG00000103647 tier1 - - 58 0 0.00 20 9 31.03 CPAMD8 0 genome.wustl.edu 37 19 17039991 17039991 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 17039991 17039991 G A SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.3046 p.R1016C 0.034 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 tier1 rs200258917 - 82 0 0.00 48 4 7.69 CRYBB3 0 genome.wustl.edu 37 22 25603066 25603066 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 22 25603066 25603066 C T SNP CRYBB3 ENST00000215855 human ensembl 74_37 +1 known missense c.523 p.R175W 0.997 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBB3 HGNC ENSG00000100053 tier1 - - 232 0 0.00 70 57 44.53 CSDE1 0 genome.wustl.edu 37 1 115268876 115268877 + Frame_Shift_Ins INS - - AATC TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 115268876 115268877 - AATC INS CSDE1 ENST00000369530 human ensembl 74_37 -1 known frame_shift_ins c.1641_1640 p.F547fs 1.000:1.000 pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot - no_errors CSDE1 HGNC ENSG00000009307 tier1 58 0 0.00 54 17 23.94 CSMD3 0 genome.wustl.edu 37 8 113529308 113529308 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 8 113529308 113529308 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.4711 p.V1571I 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 92 0 0.00 130 33 20.25 CSMD3 0 genome.wustl.edu 37 8 113516192 113516192 + Missense_Mutation SNP G G C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 8 113516192 113516192 G C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.4910 p.P1637R 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 18 0 0.00 63 9 12.50 CSRP2BP 0 genome.wustl.edu 37 20 18165377 18165377 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 20 18165377 18165377 G A SNP CSRP2BP ENST00000435364 human ensembl 74_37 +1 known missense c.2116 p.V706I 1.000 pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors CSRP2BP HGNC ENSG00000149474 tier1 - - 24 0 0.00 17 9 34.62 CX3CR1 0 genome.wustl.edu 37 3 39307429 39307429 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 39307429 39307429 C T SNP CX3CR1 ENST00000358309 human ensembl 74_37 -1 known missense c.668 p.R223H 0.003 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CX3CR1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CX3CR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CX3CR1 HGNC ENSG00000168329 tier1 - - 61 0 0.00 40 19 32.20 CXXC1 0 genome.wustl.edu 37 18 47809897 47809897 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 18 47809897 47809897 G T SNP CXXC1 ENST00000412036 human ensembl 74_37 -1 known missense c.1574 p.T525K 1.000 pfam_CpG-bd_C pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors CXXC1 HGNC ENSG00000154832 tier1 - - 83 0 0.00 53 4 7.02 CXXC5 0 genome.wustl.edu 37 5 139060532 139060532 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 5 139060532 139060532 G T SNP CXXC5 ENST00000302517 human ensembl 74_37 +1 known missense c.424 p.A142S 1.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors CXXC5 HGNC ENSG00000171604 tier1 - - 132 0 0.00 34 24 41.38 CYTH2 0 genome.wustl.edu 37 19 48981804 48981804 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 48981804 48981804 C T SNP CYTH2 ENST00000427476 human ensembl 74_37 +1 known missense c.1070 p.S357L 0.999 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH2 HGNC ENSG00000105443 94 0 0.00 38 2 5.00 DCAF4 0 genome.wustl.edu 37 14 73422300 73422300 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 14 73422300 73422300 G T SNP DCAF4 ENST00000358377 human ensembl 74_37 +1 known missense c.1075 p.G359C 0.998 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4 HGNC ENSG00000119599 tier1 - - 37 0 0.00 43 4 8.51 DCAF4L1 0 genome.wustl.edu 37 4 41984704 41984704 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 4 41984704 41984704 C A SNP DCAF4L1 ENST00000333141 human ensembl 74_37 +1 known missense c.895 p.L299M 0.997 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L1 HGNC ENSG00000182308 tier1 - - 77 0 0.00 34 17 33.33 DCLK3 0 genome.wustl.edu 37 3 36779064 36779064 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 36779064 36779064 C A SNP DCLK3 ENST00000416516 human ensembl 74_37 -1 known missense c.1087 p.G363W 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_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_dom - no_errors DCLK3 HGNC ENSG00000163673 tier1 - - 52 0 0.00 31 11 26.19 DEGS1 0 genome.wustl.edu 37 1 224380109 224380109 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 224380109 224380109 G T SNP DEGS1 ENST00000323699 human ensembl 74_37 +1 known missense c.901 p.V301L 1.000 pirsf_Sphingolipid_d4-desaturase pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase - no_errors DEGS1 HGNC ENSG00000143753 tier1 - - 39 0 0.00 65 4 5.80 DENND4B 0 genome.wustl.edu 37 1 153905768 153905768 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 153905768 153905768 C T SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known missense c.3358 p.D1120N 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 tier1 - - 50 0 0.00 19 12 38.71 DEPTOR 0 genome.wustl.edu 37 8 120977610 120977610 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 8 120977610 120977610 G T SNP DEPTOR ENST00000286234 human ensembl 74_37 +1 known missense c.564 p.Q188H 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DEP_dom,superfamily_PDZ,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ - no_errors DEPTOR HGNC ENSG00000155792 17 0 0.00 26 5 16.13 DHDH 0 genome.wustl.edu 37 19 49442849 49442850 + Frame_Shift_Ins INS - - G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 49442849 49442850 - G INS DHDH ENST00000221403 human ensembl 74_37 +1 known frame_shift_ins c.510_511 p.A172fs 0.093:0.998 NULL pfam_Oxidoreductase_N - no_errors DHDH HGNC ENSG00000104808 tier1 81 0 0.00 36 22 37.93 DLGAP3 0 genome.wustl.edu 37 1 35334651 35334651 + Silent SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 35334651 35334651 G A SNP DLGAP3 ENST00000235180 human ensembl 74_37 -1 known silent c.2040 p.G680 0.615 pfam_GKAP pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 tier1 - - 51 0 0.00 18 14 42.42 DMD 0 genome.wustl.edu 37 X 31676247 31676247 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc X 31676247 31676247 G T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.7887 p.D2629E 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 24 0 0.00 32 4 11.11 DNAH11 0 genome.wustl.edu 37 7 21788289 21788289 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 7 21788289 21788289 G T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.8623 p.A2875S 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 tier1 - - 63 0 0.00 58 4 6.45 DNAH17 0 genome.wustl.edu 37 17 76423012 76423012 + Missense_Mutation SNP G G C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 17 76423012 76423012 G C SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.12835 p.L4279V 0.977 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 tier1 - - 51 0 0.00 18 8 30.77 DNAJC1 0 genome.wustl.edu 37 10 22193537 22193537 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 10 22193537 22193537 G T SNP DNAJC1 ENST00000376980 human ensembl 74_37 -1 known missense c.734 p.A245D 1.000 NULL pfam_DnaJ_domain,pfam_SANT/Myb,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC1 HGNC ENSG00000136770 19 0 0.00 38 4 9.52 DNM1P47 0 genome.wustl.edu 37 15 102303563 102303563 + RNA SNP A A G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 15 102303563 102303563 A G SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 18 0 0.00 3 4 57.14 DNM1P47 0 genome.wustl.edu 37 15 102304524 102304524 + RNA SNP A A G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 15 102304524 102304524 A G SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 94 0 0.00 48 6 11.11 DTX3L 0 genome.wustl.edu 37 3 122289345 122289345 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 122289345 122289345 G A SNP DTX3L ENST00000296161 human ensembl 74_37 +1 known missense c.1979 p.R660Q 0.745 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3L HGNC ENSG00000163840 tier1 - - 35 0 0.00 42 23 35.38 DUSP13 0 genome.wustl.edu 37 10 76861652 76861652 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 10 76861652 76861652 C T SNP DUSP13 ENST00000491677 human ensembl 74_37 -1 known missense c.359 p.C120Y 0.137 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP13 HGNC ENSG00000079393 tier1 - - 89 0 0.00 53 4 7.02 DYRK1A 0 genome.wustl.edu 37 21 38845005 38845005 + Nonsense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 21 38845005 38845005 C A SNP DYRK1A ENST00000398960 human ensembl 74_37 +1 known nonsense c.30 p.C10* 1.000 NULL pfam_Prot_kinase_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_dom - no_errors DYRK1A HGNC ENSG00000157540 tier1 - - 39 0 0.00 36 10 21.74 E2F5 0 genome.wustl.edu 37 8 86119673 86119673 + Silent SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 8 86119673 86119673 G A SNP E2F5 ENST00000256117 human ensembl 74_37 +1 known silent c.567 p.L189 0.998 NULL pfam_E2F_TDP - no_errors E2F5 HGNC ENSG00000133740 tier1 - - 44 0 0.00 26 9 25.71 E2F7 0 genome.wustl.edu 37 12 77421782 77421783 + Frame_Shift_Del DEL AG AG - TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 12 77421782 77421783 AG - DEL E2F7 ENST00000322886 human ensembl 74_37 -1 known frame_shift_del c.2021_2020 p.L674fs 0.000:0.000 NULL pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 tier1 48 0 0.00 28 9 24.32 EFCAB14 0 genome.wustl.edu 37 1 47157529 47157529 + Silent SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 47157529 47157529 C T SNP EFCAB14 ENST00000371933 human ensembl 74_37 -1 known silent c.660 p.K220 1.000 NULL pfscan_EF_hand_dom - no_errors EFCAB14 HGNC ENSG00000159658 tier1 - - 43 0 0.00 50 7 12.28 EFCAB4B 0 genome.wustl.edu 37 12 3782646 3782646 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 12 3782646 3782646 C T SNP EFCAB4B ENST00000440314 human ensembl 74_37 -1 known missense c.637 p.E213K 0.810 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_EF_hand_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom - no_errors EFCAB4B HGNC ENSG00000130038 tier1 - - 65 0 0.00 86 6 6.52 EIF3G 0 genome.wustl.edu 37 19 10225804 10225804 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 10225804 10225804 G T SNP EIF3G ENST00000253108 human ensembl 74_37 -1 known missense c.949 p.P317T 0.998 pirsf_eIF3_g,pfscan_RRM_dom pfam_eIF3g_N,pfam_RRM_dom,smart_RRM_dom,pirsf_eIF3_g,pfscan_RRM_dom - no_errors EIF3G HGNC ENSG00000130811 tier1 - - 183 0 0.00 51 44 46.32 ELF2 0 genome.wustl.edu 37 4 139981500 139981500 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 4 139981500 139981500 C T SNP ELF2 ENST00000379550 human ensembl 74_37 -1 known missense c.1135 p.V379M 0.317 NULL pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF2 HGNC ENSG00000109381 tier1 - - 22 0 0.00 24 10 29.41 ENSG00000231171 0 genome.wustl.edu 37 4 178896971 178896971 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 4 178896971 178896971 G T SNP ENSG00000231171 ENST00000507870 human ensembl 74_37 +1 putative missense c.174 p.M58I 0.000 NULL NULL - no_errors RP11-389E17.1 Clone_based_vega_gene ENSG00000231171 tier1 - - 41 0 0.00 17 13 43.33 ENSG00000254967 0 genome.wustl.edu 37 11 125820816 125820816 + RNA SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 11 125820816 125820816 G T SNP ENSG00000254967 ENST00000529072 human ensembl 74_37 +1 known rna NULL NULL 0.976 - - - no_errors RP11-680F20.6 Clone_based_vega_gene ENSG00000254967 tier1 - - 152 0 0.00 58 4 6.45 ENSG00000263020 0 genome.wustl.edu 37 6 31638955 31638955 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 31638955 31638955 G A SNP ENSG00000263020 ENST00000375880 human ensembl 74_37 +1 putative missense c.580 p.V194M 0.985 NULL pfam_Casein_kinase_II_reg-sub,superfamily_Casein_kinase_II_reg-sub,prints_Casein_kinase_II_reg-sub - no_errors CSNK2B-LY6G5B-1181 Uniprot_gn ENSG00000263020 tier1 - - 73 0 0.00 47 22 31.88 ENSG00000266560 0 genome.wustl.edu 37 X 151284037 151284037 + RNA SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc X 151284037 151284037 C A SNP ENSG00000266560 ENST00000509345 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-1007I13.4 Clone_based_vega_gene ENSG00000266560 tier1 - - 87 0 0.00 20 51 71.83 EPB41 0 genome.wustl.edu 37 1 29365939 29365939 + Splice_Site SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 29365939 29365939 G A SNP EPB41 ENST00000343067 human ensembl 74_37 +1 known splice_site c.1636+1 e10+1 1.000 - - - no_errors EPB41 HGNC ENSG00000159023 tier1 - - 64 0 0.00 40 17 29.82 EPHB4 0 genome.wustl.edu 37 7 100417397 100417397 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 7 100417397 100417397 C T SNP EPHB4 ENST00000358173 human ensembl 74_37 -1 known missense c.1079 p.R360H 0.941 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB4 HGNC ENSG00000196411 69 0 0.00 27 2 6.90 ERN2 0 genome.wustl.edu 37 16 23713995 23713995 + Missense_Mutation SNP T T G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 16 23713995 23713995 T G SNP ERN2 ENST00000256797 human ensembl 74_37 -1 known missense c.1027 p.T343P 0.246 NULL pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN2 HGNC ENSG00000134398 tier1 - - 38 0 0.00 19 11 36.67 ERV3-1 0 genome.wustl.edu 37 7 64453295 64453295 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 7 64453295 64453295 G A SNP ERV3-1 ENST00000394323 human ensembl 74_37 -1 known missense c.110 p.S37L 0.820 NULL NULL - no_errors ERV3-1 HGNC ENSG00000213462 tier1 - - 36 0 0.00 32 10 23.81 ERV3-1 0 genome.wustl.edu 37 7 64453327 64453327 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 7 64453327 64453327 C A SNP ERV3-1 ENST00000394323 human ensembl 74_37 -1 known missense c.78 p.E26D 0.908 NULL NULL - no_errors ERV3-1 HGNC ENSG00000213462 tier1 - - 36 0 0.00 34 11 24.44 ERV3-1 0 genome.wustl.edu 37 7 64453347 64453347 + Missense_Mutation SNP A A C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 7 64453347 64453347 A C SNP ERV3-1 ENST00000394323 human ensembl 74_37 -1 known missense c.58 p.L20V 0.889 NULL NULL - no_errors ERV3-1 HGNC ENSG00000213462 tier1 - - 30 0 0.00 26 11 29.73 F5 0 genome.wustl.edu 37 1 169519183 169519183 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 169519183 169519183 C A SNP F5 ENST00000367797 human ensembl 74_37 -1 known missense c.1467 p.E489D 0.860 superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 tier1 - - 54 0 0.00 39 30 43.48 FAM179B 0 genome.wustl.edu 37 14 45513927 45513927 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 14 45513927 45513927 G T SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known missense c.4008 p.E1336D 0.998 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 tier1 - - 46 0 0.00 57 4 6.56 FAM65B 0 genome.wustl.edu 37 6 24809943 24809943 + Splice_Site SNP A A T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 24809943 24809943 A T SNP FAM65B ENST00000259698 human ensembl 74_37 -1 known splice_site c.3106+2 e21+2 1.000 - - - no_errors FAM65B HGNC ENSG00000111913 43 0 0.00 68 16 18.82 FAM83F 0 genome.wustl.edu 37 22 40391301 40391301 + Silent SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 22 40391301 40391301 C A SNP FAM83F ENST00000333407 human ensembl 74_37 +1 known silent c.255 p.G85 0.682 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83F HGNC ENSG00000133477 tier1 - - 19 0 0.00 8 7 46.67 FAT3 0 genome.wustl.edu 37 11 92538510 92538510 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 11 92538510 92538510 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.9088 p.D3030N 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 35 0 0.00 59 5 7.58 FBRS 0 genome.wustl.edu 37 16 30675640 30675640 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 16 30675640 30675640 C T SNP FBRS ENST00000356166 human ensembl 74_37 +1 known missense c.1160 p.A387V 0.991 NULL prints_AUTS2 - no_errors FBRS HGNC ENSG00000156860 tier1 - - 189 0 0.00 47 26 35.62 FBXO34 0 genome.wustl.edu 37 14 55818294 55818294 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 14 55818294 55818294 G A SNP FBXO34 ENST00000313833 human ensembl 74_37 +1 known missense c.1186 p.A396T 0.003 NULL superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO34 HGNC ENSG00000178974 tier1 - - 41 0 0.00 26 38 59.38 FBXO40 0 genome.wustl.edu 37 3 121341286 121341286 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 121341286 121341286 G T SNP FBXO40 ENST00000338040 human ensembl 74_37 +1 known missense c.1010 p.G337V 1.000 NULL superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF - no_errors FBXO40 HGNC ENSG00000163833 tier1 - - 21 0 0.00 22 13 37.14 FBXW5 0 genome.wustl.edu 37 9 139836492 139836492 + RNA SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 9 139836492 139836492 G T SNP FBXW5 ENST00000487794 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors FBXW5 HGNC ENSG00000159069 tier1 - - 86 0 0.00 53 5 8.62 FIGN 0 genome.wustl.edu 37 2 164468131 164468132 + Frame_Shift_Ins INS - - T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 2 164468131 164468132 - T INS FIGN ENST00000333129 human ensembl 74_37 -1 known frame_shift_ins c.211_210 p.Y70fs 1.000:0.998 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 tier1 39 0 0.00 36 13 26.53 FLG 0 genome.wustl.edu 37 1 152278839 152278841 + In_Frame_Del DEL TGT TGT - TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 152278839 152278841 TGT - DEL FLG ENST00000368799 human ensembl 74_37 -1 known in_frame_del c.8523_8521 p.T2841in_frame_del 0.000:0.000:0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 197 0 0.00 123 21 14.58 FLNC 0 genome.wustl.edu 37 7 128491646 128491646 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 7 128491646 128491646 C A SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.5806 p.H1936N 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 tier1 - - 42 0 0.00 24 13 35.14 FLT1 0 genome.wustl.edu 37 13 28897002 28897002 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 13 28897002 28897002 C T SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known missense c.2878 p.V960I 0.980 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_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 tier1 - - 45 0 0.00 26 19 42.22 FMN1 0 genome.wustl.edu 37 15 33358786 33358786 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 15 33358786 33358786 C T SNP FMN1 ENST00000334528 human ensembl 74_37 -1 known missense c.1300 p.E434K 1.000 NULL pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam - no_errors FMN1 HGNC ENSG00000248905 tier1 - - 54 0 0.00 59 5 7.81 FMO6P 0 genome.wustl.edu 37 1 171121381 171121381 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 171121381 171121381 G T SNP FMO6P ENST00000236166 human ensembl 74_37 +1 novel missense c.1160 p.W387L 1.000 pfam_Flavin_mOase-like,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1 - no_errors FMO6P HGNC ENSG00000117507 tier1 - - 29 0 0.00 28 10 25.64 FUT8 0 genome.wustl.edu 37 14 66188719 66188719 + Silent SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 14 66188719 66188719 C T SNP FUT8 ENST00000360689 human ensembl 74_37 +1 known silent c.1062 p.G354 1.000 pirsf_Alpha1_6FUT_euk superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk - no_errors FUT8 HGNC ENSG00000033170 tier1 - - 55 0 0.00 50 22 30.56 FZD1 0 genome.wustl.edu 37 7 90895863 90895863 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 7 90895863 90895863 C A SNP FZD1 ENST00000287934 human ensembl 74_37 +1 known missense c.1668 p.F556L 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD1 HGNC ENSG00000157240 tier1 - - 42 0 0.00 17 9 34.62 FZD6 0 genome.wustl.edu 37 8 104341947 104341947 + Missense_Mutation SNP A A G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 8 104341947 104341947 A G SNP FZD6 ENST00000358755 human ensembl 74_37 +1 known missense c.1606 p.K536E 1.000 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD6 HGNC ENSG00000164930 tier1 - - 29 0 0.00 98 23 19.01 FZR1 0 genome.wustl.edu 37 19 3530789 3530789 + Splice_Site SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 3530789 3530789 G T SNP FZR1 ENST00000395095 human ensembl 74_37 +1 known splice_site c.655-1 e7-1 1.000 - - - no_errors FZR1 HGNC ENSG00000105325 tier1 - - 50 0 0.00 37 4 9.76 GALNT3 0 genome.wustl.edu 37 2 166611182 166611182 + Silent SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 2 166611182 166611182 G T SNP GALNT3 ENST00000392701 human ensembl 74_37 -1 known silent c.1581 p.G527 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT3 HGNC ENSG00000115339 tier1 - - 62 0 0.00 95 5 5.00 GBAP1 0 genome.wustl.edu 37 1 155184007 155184007 + RNA SNP A A C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 155184007 155184007 A C SNP GBAP1 ENST00000368374 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors GBAP1 HGNC ENSG00000160766 13 0 0.00 6 3 33.33 GCNT4 0 genome.wustl.edu 37 5 74325367 74325367 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 5 74325367 74325367 G T SNP GCNT4 ENST00000322348 human ensembl 74_37 -1 known missense c.496 p.R166S 0.997 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT4 HGNC ENSG00000176928 18 0 0.00 35 2 5.41 GDA 0 genome.wustl.edu 37 9 74825650 74825650 + Silent SNP A A G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 9 74825650 74825650 A G SNP GDA ENST00000238018 human ensembl 74_37 +1 known silent c.432 p.T144 1.000 pfam_Amidohydro_1,tigrfam_Guanine_deaminase pfam_Amidohydro_1,tigrfam_Guanine_deaminase - no_errors GDA HGNC ENSG00000119125 tier1 - - 22 0 0.00 28 12 30.00 GFI1 0 genome.wustl.edu 37 1 92948423 92948423 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 92948423 92948423 G T SNP GFI1 ENST00000294702 human ensembl 74_37 -1 known missense c.296 p.P99Q 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GFI1 HGNC ENSG00000162676 170 0 0.00 75 4 5.06 GIT2 0 genome.wustl.edu 37 12 110399130 110399130 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 12 110399130 110399130 C T SNP GIT2 ENST00000355312 human ensembl 74_37 -1 known missense c.940 p.V314I 1.000 NULL pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors GIT2 HGNC ENSG00000139436 tier1 - - 70 0 0.00 54 4 6.90 GLI1 0 genome.wustl.edu 37 12 57860033 57860033 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 12 57860033 57860033 G A SNP GLI1 ENST00000228682 human ensembl 74_37 +1 known missense c.773 p.S258N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 tier1 - - 61 0 0.00 27 23 46.00 GMEB2 0 genome.wustl.edu 37 20 62250679 62250679 + Silent SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 20 62250679 62250679 G A SNP GMEB2 ENST00000266068 human ensembl 74_37 -1 known silent c.72 p.D24 0.297 NULL pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Sig_transdc_His_kin_Hpt_dom,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB2 HGNC ENSG00000101216 tier1 - - 101 0 0.00 27 18 40.00 GNAS 0 genome.wustl.edu 37 20 57484421 57484421 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 20 57484421 57484421 G A SNP GNAS ENST00000354359 human ensembl 74_37 +1 known missense c.605 p.R202H 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 tier1 rs121913495 - 68 0 0.00 34 31 46.97 GPAA1 0 genome.wustl.edu 37 8 145138344 145138344 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 8 145138344 145138344 G A SNP GPAA1 ENST00000355091 human ensembl 74_37 +1 known missense c.307 p.V103I 1.000 pirsf_GPI_prot_transamidse_cplx_GAA1 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 - no_errors GPAA1 HGNC ENSG00000197858 tier1 - - 110 0 0.00 105 19 15.20 GPR149 0 genome.wustl.edu 37 3 154139187 154139187 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 154139187 154139187 C T SNP GPR149 ENST00000389740 human ensembl 74_37 -1 known missense c.1264 p.E422K 0.959 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR149 HGNC ENSG00000174948 tier1 - - 12 0 0.00 9 9 50.00 GPR98 0 genome.wustl.edu 37 5 89981726 89981726 + Missense_Mutation SNP G G C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 5 89981726 89981726 G C SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.6404 p.G2135A 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 - - 37 0 0.00 40 18 31.03 GRAMD2 0 genome.wustl.edu 37 15 72456023 72456023 + Missense_Mutation SNP G G C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 15 72456023 72456023 G C SNP GRAMD2 ENST00000309731 human ensembl 74_37 -1 known missense c.676 p.P226A 0.401 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD2 HGNC ENSG00000175318 tier1 - - 33 0 0.00 17 6 26.09 GRID1 0 genome.wustl.edu 37 10 87966134 87966134 + Silent SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 10 87966134 87966134 G A SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known silent c.507 p.Y169 0.981 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 tier1 - - 40 0 0.00 15 7 31.82 GRID2IP 0 genome.wustl.edu 37 7 6537841 6537841 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 7 6537841 6537841 G T SNP GRID2IP ENST00000457091 human ensembl 74_37 -1 putative missense c.3418 p.Q1140K 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_FH2_Formin,pfscan_PDZ - no_errors GRID2IP HGNC ENSG00000215045 140 0 0.00 72 4 5.26 GRIK2 0 genome.wustl.edu 37 6 101847189 101847189 + Silent SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 101847189 101847189 C A SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known silent c.36 p.V12 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 tier1 - - 56 0 0.00 23 19 45.24 GTF3C2 0 genome.wustl.edu 37 2 27551709 27551709 + Splice_Site SNP A A G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 2 27551709 27551709 A G SNP GTF3C2 ENST00000264720 human ensembl 74_37 -1 known splice_site c.2127+2 e14+2 1.000 - - - no_errors GTF3C2 HGNC ENSG00000115207 tier1 - - 41 0 0.00 33 14 29.79 GUCY2F 0 genome.wustl.edu 37 X 108641818 108641818 + Silent SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc X 108641818 108641818 G A SNP GUCY2F ENST00000218006 human ensembl 74_37 -1 known silent c.2235 p.V745 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 tier1 - - 15 0 0.00 3 22 88.00 HBP1 0 genome.wustl.edu 37 7 106829747 106829747 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 7 106829747 106829747 C T SNP HBP1 ENST00000222574 human ensembl 74_37 +1 known missense c.776 p.S259F 1.000 pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 pfam_Ataxin-1_HBP1,pfam_HMG_box_dom,superfamily_Ataxin-1_HBP1,superfamily_HMG_box_dom,smart_Ataxin_AXH_dom,smart_HMG_box_dom,pfscan_Ataxin-1_HBP1,pfscan_HMG_box_dom - no_errors HBP1 HGNC ENSG00000105856 tier1 - - 57 0 0.00 75 9 10.71 HDLBP 0 genome.wustl.edu 37 2 242181874 242181874 + Splice_Site SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 2 242181874 242181874 C A SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known splice_site c.2169+1 e15+1 1.000 - - - no_errors HDLBP HGNC ENSG00000115677 47 0 0.00 35 2 5.41 HDX 0 genome.wustl.edu 37 X 83724053 83724053 + Silent SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc X 83724053 83724053 C A SNP HDX ENST00000297977 human ensembl 74_37 -1 known silent c.678 p.G226 0.997 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HDX HGNC ENSG00000165259 tier1 - - 19 0 0.00 5 23 82.14 HELB 0 genome.wustl.edu 37 12 66718883 66718883 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 12 66718883 66718883 G A SNP HELB ENST00000247815 human ensembl 74_37 +1 known missense c.2647 p.A883T 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors HELB HGNC ENSG00000127311 68 0 0.00 70 4 5.41 HERC2 0 genome.wustl.edu 37 15 28441632 28441632 + Missense_Mutation SNP C C G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 15 28441632 28441632 C G SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.8095 p.V2699L 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 tier1 - - 104 0 0.00 103 54 34.39 HIPK1 0 genome.wustl.edu 37 1 114508756 114508756 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 114508756 114508756 C T SNP HIPK1 ENST00000369558 human ensembl 74_37 +1 known missense c.2243 p.A748V 1.000 NULL pfam_Prot_kinase_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_dom - no_errors HIPK1 HGNC ENSG00000163349 54 0 0.00 50 4 7.41 HIST1H4E 0 genome.wustl.edu 37 6 26204991 26204991 + Missense_Mutation SNP G G C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 26204991 26204991 G C SNP HIST1H4E ENST00000360441 human ensembl 74_37 +1 known missense c.119 p.R40P 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4E HGNC ENSG00000198518 tier1 - - 94 0 0.00 50 24 32.43 HLA-B 0 genome.wustl.edu 37 6 31322980 31322980 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 31322980 31322980 C A SNP HLA-B ENST00000412585 human ensembl 74_37 -1 known missense c.916 p.V306F 0.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 tier1 - - 107 0 0.00 56 31 35.23 HLA-DOA 0 genome.wustl.edu 37 6 32975251 32975251 + Silent SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 32975251 32975251 G A SNP HLA-DOA ENST00000229829 human ensembl 74_37 -1 known silent c.450 p.N150 0.823 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DOA HGNC ENSG00000204252 tier1 - - 91 0 0.00 36 22 37.93 HMMR 0 genome.wustl.edu 37 5 162917425 162917426 + Frame_Shift_Ins INS - - A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 5 162917425 162917426 0 A INS HMMR ENST00000393915 human ensembl 74_37 +1 known frame_shift_ins c.1992_1993 p.Q667fs 0.976:1.000 NULL NULL - no_errors HMMR HGNC ENSG00000072571 46 0 0.00 70 9 11.39 HNF4A 0 genome.wustl.edu 37 20 43057081 43057081 + Silent SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 20 43057081 43057081 C T SNP HNF4A ENST00000316099 human ensembl 74_37 +1 known silent c.1236 p.L412 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4A HGNC ENSG00000101076 tier1 - - 50 0 0.00 29 5 14.71 HOXA2 0 genome.wustl.edu 37 7 27140789 27140789 + Missense_Mutation SNP C C G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 7 27140789 27140789 C G SNP HOXA2 ENST00000222718 human ensembl 74_37 -1 known missense c.687 p.E229D 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA2 HGNC ENSG00000105996 22 0 0.00 34 4 10.53 HSP90AB1 0 genome.wustl.edu 37 6 44217808 44217811 + Frame_Shift_Del DEL CAGA CAGA - TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 CAGA CAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 44217808 44217811 CAGA - DEL HSP90AB1 ENST00000353801 human ensembl 74_37 +1 known frame_shift_del c.565_568 p.T190fs 1.000:1.000:1.000:1.000 superfamily_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors HSP90AB1 HGNC ENSG00000096384 tier1 46 0 0.00 52 12 18.75 HUNK 0 genome.wustl.edu 37 21 33370907 33370907 + Nonsense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 21 33370907 33370907 G T SNP HUNK ENST00000270112 human ensembl 74_37 +1 known nonsense c.1555 p.E519* 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HUNK HGNC ENSG00000142149 tier1 - - 48 0 0.00 43 4 8.51 HYDIN 0 genome.wustl.edu 37 16 70897063 70897063 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 16 70897063 70897063 G A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.11494 p.R3832C 0.043 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 rs201571332 - 17 0 0.00 17 8 32.00 IFT140 0 genome.wustl.edu 37 16 1621406 1621406 + Splice_Site SNP A A G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 16 1621406 1621406 A G SNP IFT140 ENST00000426508 human ensembl 74_37 -1 known splice_site c.1652+2 e12+2 1.000 - - - no_errors IFT140 HGNC ENSG00000187535 tier1 - - 102 0 0.00 49 37 42.53 IFT52 0 genome.wustl.edu 37 20 42275603 42275603 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 20 42275603 42275603 G T SNP IFT52 ENST00000373030 human ensembl 74_37 +1 known missense c.1294 p.A432S 0.869 NULL pfam_ABC_transp_unknown - no_errors IFT52 HGNC ENSG00000101052 tier1 - - 56 0 0.00 73 5 6.41 IFT80 0 genome.wustl.edu 37 3 160037578 160037578 + Silent SNP T T C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 160037578 160037578 T C SNP IFT80 ENST00000483754 human ensembl 74_37 -1 known silent c.1440 p.Q480 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RP11-432B6.3 Clone_based_vega_gene ENSG00000248710 tier1 - - 28 0 0.00 38 19 33.33 IFT88 0 genome.wustl.edu 37 13 21265270 21265270 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 13 21265270 21265270 G A SNP IFT88 ENST00000319980 human ensembl 74_37 +1 known missense c.2458 p.D820N 1.000 NULL pfam_TPR_1,pfam_TPR_2,pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFT88 HGNC ENSG00000032742 tier1 - - 101 0 0.00 83 5 5.68 IGF1 0 genome.wustl.edu 37 12 102813302 102813302 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 12 102813302 102813302 C A SNP IGF1 ENST00000307046 human ensembl 74_37 -1 known missense c.387 p.M129I 1.000 prints_IGF-I pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF-I,prints_Insulin_family,prints_Insulin-like_growth_factor - no_errors IGF1 HGNC ENSG00000017427 tier1 - - 39 0 0.00 17 4 19.05 IGLL5 0 genome.wustl.edu 37 22 23237782 23237782 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 22 23237782 23237782 G A SNP IGLL5 ENST00000532223 human ensembl 74_37 +1 known missense c.556 p.E186K 0.000 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors IGLL5 HGNC ENSG00000254709 tier1 - - 197 0 0.00 110 13 10.57 IL15 0 genome.wustl.edu 37 4 142642320 142642320 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 4 142642320 142642320 G T SNP IL15 ENST00000394159 human ensembl 74_37 +1 known missense c.19 p.D7Y 0.003 pfam_IL-15/IL-21_fam pfam_IL-15/IL-21_fam,prints_IL-15 - no_errors IL15 HGNC ENSG00000164136 tier1 - - 43 0 0.00 25 14 35.90 INF2 0 genome.wustl.edu 37 14 105180911 105180911 + Silent SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 14 105180911 105180911 C T SNP INF2 ENST00000392634 human ensembl 74_37 +1 known silent c.3412 p.L1138 0.000 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 92 0 0.00 62 4 6.06 IPO11 0 genome.wustl.edu 37 5 61923185 61923185 + RNA SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 5 61923185 61923185 G T SNP IPO11 ENST00000512177 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors IPO11 HGNC ENSG00000086200 tier1 - - 52 0 0.00 50 4 7.41 IQCE 0 genome.wustl.edu 37 7 2611943 2611943 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 7 2611943 2611943 G A SNP IQCE ENST00000402050 human ensembl 74_37 +1 known missense c.377 p.R126K 0.592 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCE HGNC ENSG00000106012 tier1 - - 49 0 0.00 17 8 30.77 IQCE 0 genome.wustl.edu 37 7 2625840 2625840 + Splice_Site SNP A A G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 7 2625840 2625840 A G SNP IQCE ENST00000402050 human ensembl 74_37 +1 known splice_site c.825-2 e12-2 0.625 - - - no_errors IQCE HGNC ENSG00000106012 tier1 - - 49 0 0.00 43 4 8.51 ISPD 0 genome.wustl.edu 37 7 16255711 16255711 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 7 16255711 16255711 G T SNP ISPD ENST00000407010 human ensembl 74_37 -1 known missense c.1231 p.L411I 0.858 NULL pfam_IspD - no_errors ISPD HGNC ENSG00000214960 tier1 - - 52 0 0.00 31 15 32.61 ITGA1 0 genome.wustl.edu 37 5 52206093 52206093 + Silent SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 5 52206093 52206093 C T SNP ITGA1 ENST00000282588 human ensembl 74_37 +1 known silent c.1701 p.C567 0.084 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ENSG00000213949 28 0 0.00 25 2 7.41 ITK 0 genome.wustl.edu 37 5 156638349 156638349 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 5 156638349 156638349 C T SNP ITK ENST00000422843 human ensembl 74_37 +1 known missense c.295 p.R99W 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC ENSG00000113263 tier1 - - 50 0 0.00 27 6 18.18 JPH1 0 genome.wustl.edu 37 8 75171619 75171619 + Splice_Site SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 8 75171619 75171619 C T SNP JPH1 ENST00000342232 human ensembl 74_37 -1 known splice_site c.1258+1 e3+1 1.000 - - - no_errors JPH1 HGNC ENSG00000104369 tier1 - - 39 0 0.00 10 6 37.50 KALRN 0 genome.wustl.edu 37 3 124390534 124390534 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 124390534 124390534 G A SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.6728 p.R2243Q 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 tier1 - - 77 0 0.00 43 27 38.57 KCNH4 0 genome.wustl.edu 37 17 40315780 40315780 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 17 40315780 40315780 G A SNP KCNH4 ENST00000264661 human ensembl 74_37 -1 known missense c.2321 p.S774F 1.000 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 tier1 - - 84 0 0.00 25 12 32.43 KCTD16 0 genome.wustl.edu 37 5 143586970 143586970 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 5 143586970 143586970 G T SNP KCTD16 ENST00000507359 human ensembl 74_37 +1 known missense c.693 p.K231N 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD16 HGNC ENSG00000183775 tier1 - - 34 0 0.00 50 4 7.41 KCTD19 0 genome.wustl.edu 37 16 67360597 67360597 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 16 67360597 67360597 G A SNP KCTD19 ENST00000562721 human ensembl 74_37 -1 known missense c.14 p.P5L 0.000 NULL NULL - no_errors KCTD19 HGNC ENSG00000168676 tier1 - - 43 0 0.00 15 7 31.82 KDM1A 0 genome.wustl.edu 37 1 23357117 23357118 + Frame_Shift_Ins INS - - G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 23357117 23357118 - G INS KDM1A ENST00000542151 human ensembl 74_37 +1 known frame_shift_ins c.507_508 p.E169fs 1.000:1.000 pirsf_Hist_Lys-spec_deMease pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM - no_errors KDM1A HGNC ENSG00000004487 tier1 30 0 0.00 35 14 28.57 KDM3A 0 genome.wustl.edu 37 2 86716722 86716722 + Silent SNP A A T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 2 86716722 86716722 A T SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known silent c.3513 p.G1171 0.966 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 tier1 - - 27 0 0.00 25 10 27.78 KIAA0408 0 genome.wustl.edu 37 6 127767686 127767686 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 127767686 127767686 G T SNP KIAA0408 ENST00000483725 human ensembl 74_37 -1 novel missense c.1778 p.S593Y 0.001 NULL NULL - no_errors KIAA0408 HGNC ENSG00000189367 tier1 - - 24 0 0.00 24 27 51.92 KIAA1586 0 genome.wustl.edu 37 6 56918934 56918934 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 56918934 56918934 G A SNP KIAA1586 ENST00000370733 human ensembl 74_37 +1 known missense c.1637 p.R546K 0.997 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors KIAA1586 HGNC ENSG00000168116 tier1 - - 42 0 0.00 44 10 18.52 KIAA1919 0 genome.wustl.edu 37 6 111580924 111580924 + Silent SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 111580924 111580924 G T SNP KIAA1919 ENST00000368847 human ensembl 74_37 +1 known silent c.21 p.L7 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 tier1 - - 113 0 0.00 61 4 6.15 KIF6 0 genome.wustl.edu 37 6 39507786 39507786 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 39507786 39507786 C A SNP KIF6 ENST00000287152 human ensembl 74_37 -1 known missense c.1638 p.K546N 0.052 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC ENSG00000164627 tier1 - - 62 0 0.00 43 25 36.76 KLHDC7A 0 genome.wustl.edu 37 1 18807852 18807852 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 18807852 18807852 G A SNP KLHDC7A ENST00000400664 human ensembl 74_37 +1 known missense c.377 p.R126Q 0.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 tier1 - - 109 0 0.00 46 24 33.80 LARGE 0 genome.wustl.edu 37 22 33700424 33700424 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 22 33700424 33700424 G T SNP LARGE ENST00000354992 human ensembl 74_37 -1 known missense c.1521 p.D507E 0.467 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC ENSG00000133424 88 0 0.00 53 4 7.02 LINC00266-1 0 genome.wustl.edu 37 20 62934863 62934864 + RNA INS - - TT TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 20 62934863 62934864 - TT INS LINC00266-1 ENST00000279067 human ensembl 74_37 +1 known rna NULL NULL 0.448:0.498 - - - no_errors LINC00266-1 HGNC ENSG00000149656 tier1 37 0 0.00 63 9 12.50 LINC00273 0 genome.wustl.edu 37 16 33961581 33961581 + RNA SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 16 33961581 33961581 G A SNP LINC00273 ENST00000539813 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors LINC00273 HGNC ENSG00000256642 83 0 0.00 37 3 6.98 LNX1 0 genome.wustl.edu 37 4 54362344 54362344 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 4 54362344 54362344 C T SNP LNX1 ENST00000263925 human ensembl 74_37 -1 known missense c.1196 p.R399H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX1 HGNC ENSG00000072201 tier1 - - 50 0 0.00 29 12 29.27 LOC100131347 0 genome.wustl.edu 37 17 37237377 37237377 + RNA SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 17 37237377 37237377 G T SNP LOC100131347 ENST00000583447 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors CTD-2206N4.4 Clone_based_vega_gene ENSG00000263818 tier1 - - 34 0 0.00 40 4 9.09 LOC100132215 0 genome.wustl.edu 37 2 63272536 63272536 + RNA SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 2 63272536 63272536 G T SNP LOC100132215 ENST00000412297 human ensembl 74_37 -1 known rna NULL NULL 0.989 - - - no_errors AC009501.4 Clone_based_vega_gene ENSG00000231609 tier1 - - 73 0 0.00 42 18 30.00 LOC100132215 0 genome.wustl.edu 37 2 63272537 63272537 + RNA SNP A A T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 2 63272537 63272537 A T SNP LOC100132215 ENST00000412297 human ensembl 74_37 -1 known rna NULL NULL 0.990 - - - no_errors AC009501.4 Clone_based_vega_gene ENSG00000231609 tier1 - - 71 0 0.00 43 18 29.51 LOC100289283 0 genome.wustl.edu 37 16 29822000 29822001 + RNA INS - - G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 16 29822000 29822001 - G INS LOC100289283 ENST00000569981 human ensembl 74_37 -1 known rna NULL NULL 0.978:0.992 - - - no_errors AC009133.14 Clone_based_vega_gene ENSG00000238045 tier1 25 0 0.00 13 4 23.53 LOC100508046 0 genome.wustl.edu 37 14 20010484 20010484 + RNA SNP A A G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 14 20010484 20010484 A G SNP LOC100508046 ENST00000547584 human ensembl 74_37 +1 known rna NULL NULL 0.325 - - - no_errors RP11-244H18.1 Clone_based_vega_gene ENSG00000258276 tier1 rs201730464 - 19 0 0.00 21 10 32.26 LOC101927345 0 genome.wustl.edu 37 1 143398884 143398884 + RNA SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 143398884 143398884 C A SNP LOC101927345 ENST00000428624 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 - - 83 0 0.00 152 19 11.11 LOC152586 0 genome.wustl.edu 37 4 141377824 141377825 + Frame_Shift_Ins INS - - A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 4 141377824 141377825 - A INS LOC152586 ENST00000511113 human ensembl 74_37 -1 putative frame_shift_ins c.927_926 p.L309fs 0.993:0.985 pfam_Glyco_transf_54 pfam_Glyco_transf_54 - no_errors RP11-542P2.1 Clone_based_vega_gene ENSG00000205301 tier1 36 0 0.00 39 21 35.00 LOC201651 0 genome.wustl.edu 37 3 151488343 151488343 + RNA SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 151488343 151488343 G T SNP LOC201651 ENST00000463420 human ensembl 74_37 +1 known rna NULL NULL 0.971 - - - no_errors RP11-64D22.2 Clone_based_vega_gene ENSG00000240602 tier1 - - 54 0 0.00 72 4 5.26 LRP1B 0 genome.wustl.edu 37 2 141299445 141299445 + Silent SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 2 141299445 141299445 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.7290 p.R2430 0.996 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 62 0 0.00 43 19 30.65 LRP5 0 genome.wustl.edu 37 11 68183887 68183887 + Silent SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 11 68183887 68183887 G A SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known silent c.2919 p.L973 0.997 pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 57 0 0.00 36 3 7.69 LRRC37A11P 0 genome.wustl.edu 37 17 37187981 37187981 + RNA SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 17 37187981 37187981 G T SNP LRRC37A11P ENST00000425901 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LRRC37A11P HGNC ENSG00000214553 tier1 - - 51 0 0.00 54 25 31.65 LRRC43 0 genome.wustl.edu 37 12 122676049 122676049 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 12 122676049 122676049 G A SNP LRRC43 ENST00000339777 human ensembl 74_37 +1 known missense c.1024 p.V342M 1.000 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 tier1 - - 73 0 0.00 32 42 56.76 LRRC56 0 genome.wustl.edu 37 11 552588 552588 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 11 552588 552588 C T SNP LRRC56 ENST00000270115 human ensembl 74_37 +1 known missense c.1201 p.P401S 0.000 NULL NULL - no_errors LRRC56 HGNC ENSG00000161328 tier1 - - 247 0 0.00 96 36 27.27 LRRCC1 0 genome.wustl.edu 37 8 86019616 86019616 + Missense_Mutation SNP T T G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 8 86019616 86019616 T G SNP LRRCC1 ENST00000360375 human ensembl 74_37 +1 known missense c.86 p.M29R 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin - no_errors LRRCC1 HGNC ENSG00000133739 tier1 - - 85 0 0.00 35 13 27.08 LRRK2 0 genome.wustl.edu 37 12 40693029 40693029 + Missense_Mutation SNP G G C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 12 40693029 40693029 G C SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.3466 p.E1156Q 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 64 0 0.00 44 28 38.89 LRRN1 0 genome.wustl.edu 37 3 3886434 3886434 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 3886434 3886434 G A SNP LRRN1 ENST00000319331 human ensembl 74_37 +1 known missense c.109 p.V37I 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_dom - no_errors LRRN1 HGNC ENSG00000175928 tier1 - - 53 0 0.00 49 27 35.53 LSS 0 genome.wustl.edu 37 21 47627461 47627461 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 21 47627461 47627461 C T SNP LSS ENST00000356396 human ensembl 74_37 -1 known missense c.1348 p.G450S 1.000 superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase - no_errors LSS HGNC ENSG00000160285 tier1 - - 117 0 0.00 49 31 38.75 MAP3K12 0 genome.wustl.edu 37 12 53877411 53877411 + Silent SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 12 53877411 53877411 G T SNP MAP3K12 ENST00000267079 human ensembl 74_37 -1 known silent c.1356 p.L452 0.999 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K12 HGNC ENSG00000139625 13 0 0.00 19 2 9.52 MAP3K4 0 genome.wustl.edu 37 6 161514016 161514016 + Silent SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 161514016 161514016 G A SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known silent c.3276 p.A1092 1.000 NULL pfam_Prot_kinase_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_dom - no_errors MAP3K4 HGNC ENSG00000085511 tier1 - - 57 0 0.00 54 46 46.00 MDC1 0 genome.wustl.edu 37 6 30672262 30672262 + Missense_Mutation SNP C C G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 30672262 30672262 C G SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known missense c.4698 p.K1566N 0.000 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 tier1 - - 78 0 0.00 42 26 38.24 MEGF10 0 genome.wustl.edu 37 5 126732405 126732405 + Missense_Mutation SNP G G C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 5 126732405 126732405 G C SNP MEGF10 ENST00000274473 human ensembl 74_37 +1 known missense c.594 p.Q198H 1.000 pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 100 0 0.00 41 3 6.82 MERTK 0 genome.wustl.edu 37 2 112786094 112786094 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 2 112786094 112786094 G T SNP MERTK ENST00000295408 human ensembl 74_37 +1 known missense c.2653 p.A885S 0.001 superfamily_Rhodanese-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MERTK HGNC ENSG00000153208 tier1 - - 53 0 0.00 35 25 41.67 METTL5 0 genome.wustl.edu 37 2 170681016 170681016 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 2 170681016 170681016 G T SNP METTL5 ENST00000260953 human ensembl 74_37 -1 known missense c.92 p.T31N 1.000 NULL pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_RNA_cap_Gua-N2-MeTrfase,pfam_Methyltransf_11 - no_errors METTL5 HGNC ENSG00000138382 tier1 - - 63 0 0.00 45 4 8.16 MICU2 0 genome.wustl.edu 37 13 22067385 22067385 + RNA SNP T T C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 13 22067385 22067385 T C SNP MICU2 ENST00000460488 human ensembl 74_37 -1 known rna NULL NULL 0.343 - - - no_errors MICU2 HGNC ENSG00000165487 tier1 - - 31 0 0.00 50 28 35.90 MIEF2 0 genome.wustl.edu 37 17 18166719 18166719 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 17 18166719 18166719 C A SNP MIEF2 ENST00000395703 human ensembl 74_37 +1 novel missense c.467 p.S156Y 0.002 NULL NULL - no_errors MIEF2 HGNC ENSG00000177427 tier1 - - 21 0 0.00 8 6 42.86 MIR1197 0 genome.wustl.edu 37 14 101491922 101491922 + RNA SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 14 101491922 101491922 C T SNP MIR1197 ENST00000408818 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR1197 HGNC ENSG00000221745 52 0 0.00 75 4 5.06 MIR194-2 0 genome.wustl.edu 37 11 64658835 64658835 + RNA SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 11 64658835 64658835 C T SNP MIR194-2 ENST00000384864 human ensembl 74_37 -1 known rna NULL NULL 0.845 - - - no_errors MIR194-2 HGNC ENSG00000229719 tier1 - - 74 0 0.00 27 17 38.64 MIR23B 0 genome.wustl.edu 37 9 97847577 97847577 + RNA SNP C C G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 9 97847577 97847577 C G SNP MIR23B ENST00000384832 human ensembl 74_37 +1 known rna NULL NULL 0.676 - - - no_errors MIR23B HGNC ENSG00000207563 tier1 - - 59 0 0.00 21 7 25.00 MKI67 0 genome.wustl.edu 37 10 129910413 129910413 + Silent SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 10 129910413 129910413 C T SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known silent c.1953 p.S651 0.352 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 tier1 rs142241283 - 36 0 0.00 52 24 31.58 MLLT4 0 genome.wustl.edu 37 6 168323558 168323558 + Silent SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 168323558 168323558 C T SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known silent c.2910 p.H970 0.272 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 tier1 - - 22 0 0.00 29 18 38.30 MOCOS 0 genome.wustl.edu 37 18 33795865 33795865 + Silent SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 18 33795865 33795865 C T SNP MOCOS ENST00000261326 human ensembl 74_37 +1 known silent c.1722 p.V574 0.000 NULL pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,superfamily_Pyrv_Knase-like_insert_dom - no_errors MOCOS HGNC ENSG00000075643 tier1 - - 27 0 0.00 21 8 27.59 MOSPD1 0 genome.wustl.edu 37 X 134033227 134033227 + RNA DEL T T - TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc X 134033227 134033227 T - DEL MOSPD1 ENST00000462060 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MOSPD1 HGNC ENSG00000101928 tier1 33 0 0.00 46 5 9.80 MRPS25 0 genome.wustl.edu 37 3 15106578 15106578 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 15106578 15106578 C T SNP MRPS25 ENST00000253686 human ensembl 74_37 -1 known missense c.124 p.E42K 1.000 superfamily_Thioredoxin-like_fold,smart_Ribosome/NADH_DH pfam_Ribosome/NADH_DH,superfamily_Thioredoxin-like_fold,smart_Ribosome/NADH_DH - no_errors MRPS25 HGNC ENSG00000131368 tier1 - - 127 0 0.00 47 8 14.55 MTMR4 0 genome.wustl.edu 37 17 56582201 56582201 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 17 56582201 56582201 C T SNP MTMR4 ENST00000323456 human ensembl 74_37 -1 known missense c.1238 p.R413H 1.000 pfscan_Tyr/Dual-sp_Pase pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR4 HGNC ENSG00000108389 tier1 - - 126 0 0.00 71 6 7.79 MUC12 0 genome.wustl.edu 37 7 100634034 100634034 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 7 100634034 100634034 G A SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known missense c.190 p.A64T 0.062 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 80 0 0.00 66 33 33.33 MUC12 0 genome.wustl.edu 37 7 100637915 100637915 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 7 100637915 100637915 C A SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known missense c.4071 p.H1357Q 0.003 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 57 0 0.00 9 35 79.55 MUC12 0 genome.wustl.edu 37 7 100637916 100637916 + Missense_Mutation SNP A A G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 7 100637916 100637916 A G SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known missense c.4072 p.S1358G 0.019 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 56 0 0.00 9 34 79.07 MUC13 0 genome.wustl.edu 37 3 124627023 124627023 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 124627023 124627023 G A SNP MUC13 ENST00000311075 human ensembl 74_37 -1 known missense c.1507 p.H503Y 0.014 NULL pfam_SEA_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors MUC13 HGNC ENSG00000173702 tier1 - - 42 0 0.00 37 14 27.45 MUC16 0 genome.wustl.edu 37 19 9085519 9085519 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 9085519 9085519 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.6296 p.S2099Y 0.113 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 60 0 0.00 54 24 30.77 MYADM 0 genome.wustl.edu 37 19 54377604 54377604 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 54377604 54377604 C T SNP MYADM ENST00000336967 human ensembl 74_37 +1 known missense c.821 p.S274L 0.000 pfam_Marvel pfam_Marvel - no_errors MYADM HGNC ENSG00000179820 tier1 - - 72 0 0.00 22 12 35.29 MYCBP2 0 genome.wustl.edu 37 13 77657220 77657220 + Silent SNP T T G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 13 77657220 77657220 T G SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known silent c.10983 p.S3661 0.032 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 tier1 - - 56 0 0.00 34 28 45.16 MYH7 0 genome.wustl.edu 37 14 23894041 23894041 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 14 23894041 23894041 C A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.2616 p.E872D 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 tier1 - - 33 0 0.00 17 5 22.73 MYO1A 0 genome.wustl.edu 37 12 57435072 57435072 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 12 57435072 57435072 C A SNP MYO1A ENST00000300119 human ensembl 74_37 -1 known missense c.1165 p.D389Y 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 tier1 - - 26 0 0.00 35 4 10.00 N4BP2 0 genome.wustl.edu 37 4 40144359 40144359 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 4 40144359 40144359 G A SNP N4BP2 ENST00000261435 human ensembl 74_37 +1 known missense c.4852 p.D1618N 0.000 pfam_DUF1771 pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC ENSG00000078177 tier1 - - 52 0 0.00 46 30 39.47 NAALADL2 0 genome.wustl.edu 37 3 175165132 175165132 + Silent SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 175165132 175165132 G A SNP NAALADL2 ENST00000454872 human ensembl 74_37 +1 known silent c.1206 p.A402 0.385 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 tier1 - - 31 0 0.00 27 15 35.71 NAV2 0 genome.wustl.edu 37 11 19967974 19967974 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 11 19967974 19967974 G A SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.2243 p.R748Q 1.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 tier1 - - 77 0 0.00 45 26 36.62 NBPF12 0 genome.wustl.edu 37 1 146465946 146465946 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 146465946 146465946 C T SNP NBPF12 ENST00000442909 human ensembl 74_37 +1 novel missense c.9821 p.S3274L 0.003 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF12 HGNC ENSG00000186275 tier1 rs200985386 - 49 0 0.00 13 45 77.59 NCAM2 0 genome.wustl.edu 37 21 22746285 22746285 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 21 22746285 22746285 G T SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.1147 p.A383S 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 tier1 - - 57 0 0.00 23 17 42.50 NCAPD3 0 genome.wustl.edu 37 11 134073578 134073578 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 11 134073578 134073578 G A SNP NCAPD3 ENST00000534548 human ensembl 74_37 -1 known missense c.1439 p.S480L 0.007 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 tier1 rs201688313 - 63 0 0.00 39 24 38.10 NCOA2 0 genome.wustl.edu 37 8 71075774 71075774 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 8 71075774 71075774 G T SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.758 p.A253E 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 tier1 - - 59 0 0.00 70 4 5.41 NDST3 0 genome.wustl.edu 37 4 118975223 118975223 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 4 118975223 118975223 G A SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known missense c.158 p.G53D 0.976 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 tier1 - - 34 0 0.00 22 16 42.11 NDST3 0 genome.wustl.edu 37 4 118975378 118975378 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 4 118975378 118975378 C A SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known missense c.313 p.Q105K 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 23 0 0.00 55 3 5.17 NEK3 0 genome.wustl.edu 37 13 52718058 52718058 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 13 52718058 52718058 C T SNP NEK3 ENST00000452082 human ensembl 74_37 -1 known missense c.932 p.R311K 0.035 NULL pfam_Prot_kinase_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_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK3 HGNC ENSG00000136098 28 0 0.00 52 6 10.34 NEK3 0 genome.wustl.edu 37 13 52718059 52718059 + Missense_Mutation SNP T T C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 13 52718059 52718059 T C SNP NEK3 ENST00000452082 human ensembl 74_37 -1 known missense c.931 p.R311G 0.038 NULL pfam_Prot_kinase_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_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK3 HGNC ENSG00000136098 28 0 0.00 53 5 8.62 NEK4 0 genome.wustl.edu 37 3 52773550 52773550 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 52773550 52773550 G A SNP NEK4 ENST00000233027 human ensembl 74_37 -1 known missense c.2194 p.P732S 0.738 NULL pfam_Prot_kinase_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_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK4 HGNC ENSG00000114904 tier1 - - 64 0 0.00 59 24 28.92 NEUROD4 0 genome.wustl.edu 37 12 55420674 55420674 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 12 55420674 55420674 G T SNP NEUROD4 ENST00000242994 human ensembl 74_37 +1 known missense c.451 p.G151W 1.000 pfam_Neurogenic_DUF,superfamily_bHLH_dom,pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD4 HGNC ENSG00000123307 25 0 0.00 34 2 5.56 NFATC4 0 genome.wustl.edu 37 14 24839449 24839449 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 14 24839449 24839449 C T SNP NFATC4 ENST00000413692 human ensembl 74_37 +1 known missense c.1034 p.P345L 1.000 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 tier1 - - 92 0 0.00 25 22 46.81 NKAIN4 0 genome.wustl.edu 37 20 61872617 61872617 + RNA DEL T T - TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 20 61872617 61872617 T - DEL NKAIN4 ENST00000466885 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NKAIN4 HGNC ENSG00000101198 tier1 9 0 0.00 15 4 21.05 NPHS1 0 genome.wustl.edu 37 19 36341899 36341899 + Frame_Shift_Del DEL C C - TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 36341899 36341899 C - DEL NPHS1 ENST00000378910 human ensembl 74_37 -1 known frame_shift_del c.490 p.D164fs 0.572 pfam_CD80_C2-set pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NPHS1 HGNC ENSG00000161270 tier1 37 0 0.00 23 2 8.00 NPIPB6 0 genome.wustl.edu 37 16 28374090 28374090 + Silent SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 16 28374090 28374090 G A SNP NPIPB6 ENST00000532254 human ensembl 74_37 -1 novel silent c.54 p.S18 0.039 NULL NULL - no_errors NPIPB6 HGNC ENSG00000198156 tier1 - - 224 0 0.00 105 83 44.15 NTM 0 genome.wustl.edu 37 11 131530879 131530880 + RNA INS - - A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 11 131530879 131530880 - A INS NTM ENST00000477098 human ensembl 74_37 +1 putative rna NULL NULL 1.000:0.999 - - - no_errors NTM HGNC ENSG00000182667 tier1 26 0 0.00 28 4 12.50 NUP85 0 genome.wustl.edu 37 17 73204645 73204645 + Silent SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 17 73204645 73204645 G A SNP NUP85 ENST00000245544 human ensembl 74_37 +1 known silent c.57 p.K19 0.957 NULL pfam_Nucleoporin_Nup85 - no_errors NUP85 HGNC ENSG00000125450 tier1 - - 71 0 0.00 67 28 29.47 OR10AG1 0 genome.wustl.edu 37 11 55735930 55735930 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 11 55735930 55735930 C A SNP OR10AG1 ENST00000312345 human ensembl 74_37 -1 known missense c.10 p.V4F 0.375 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10AG1 HGNC ENSG00000174970 10 0 0.00 15 9 37.50 OR8K1 0 genome.wustl.edu 37 11 56113847 56113847 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 11 56113847 56113847 G T SNP OR8K1 ENST00000279783 human ensembl 74_37 +1 known missense c.333 p.E111D 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K1 HGNC ENSG00000150261 11 0 0.00 21 2 8.70 OTOG 0 genome.wustl.edu 37 11 17578812 17578812 + Silent SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 11 17578812 17578812 C T SNP OTOG ENST00000399391 human ensembl 74_37 +1 known silent c.843 p.T281 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 tier1 - - 40 0 0.00 20 6 23.08 OVCH1 0 genome.wustl.edu 37 12 29596332 29596332 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 12 29596332 29596332 C T SNP OVCH1 ENST00000318184 human ensembl 74_37 -1 known missense c.3119 p.R1040H 0.007 superfamily_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors OVCH1 HGNC ENSG00000187950 tier1 - - 47 0 0.00 60 27 31.03 PAK7 0 genome.wustl.edu 37 20 9560912 9560912 + Silent SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 20 9560912 9560912 C A SNP PAK7 ENST00000353224 human ensembl 74_37 -1 known silent c.870 p.S290 0.391 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK7 HGNC ENSG00000101349 tier1 - - 75 0 0.00 52 25 32.47 PALD1 0 genome.wustl.edu 37 10 72292493 72292495 + In_Frame_Del DEL GGA GGA - TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 10 72292493 72292495 GGA - DEL PALD1 ENST00000263563 human ensembl 74_37 +1 known in_frame_del c.750_752 p.E252in_frame_del 0.000:0.961:1.000 NULL smart_Tyr_Pase_cat - no_errors PALD1 HGNC ENSG00000107719 tier1 55 0 0.00 21 8 27.59 PARP11 0 genome.wustl.edu 37 12 3935364 3935364 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 12 3935364 3935364 G T SNP PARP11 ENST00000228820 human ensembl 74_37 -1 known missense c.304 p.R102S 1.000 pfam_WWE-dom,pfscan_WWE-dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP11 HGNC ENSG00000111224 51 0 0.00 73 4 5.19 PAX4 0 genome.wustl.edu 37 7 127251730 127251730 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 7 127251730 127251730 G T SNP PAX4 ENST00000341640 human ensembl 74_37 -1 known missense c.748 p.Q250K 0.791 NULL pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX4 HGNC ENSG00000106331 tier1 - - 22 0 0.00 21 11 34.38 PAXIP1 0 genome.wustl.edu 37 7 154760267 154760269 + In_Frame_Del DEL CTG CTG - TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 7 154760267 154760269 CTG - DEL PAXIP1 ENST00000397192 human ensembl 74_37 -1 known in_frame_del c.1644_1642 p.Q548in_frame_del 0.709:0.971:0.997 NULL pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 tier1 57 0 0.00 26 3 10.34 PBDC1 0 genome.wustl.edu 37 X 75395330 75395330 + Missense_Mutation SNP A A G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc X 75395330 75395330 A G SNP PBDC1 ENST00000373358 human ensembl 74_37 +1 known missense c.179 p.Q60R 1.000 pfam_Put_polysacc_synth pfam_Put_polysacc_synth - no_errors PBDC1 HGNC ENSG00000102390 tier1 - - 35 0 0.00 49 4 7.55 PCDH11X 0 genome.wustl.edu 37 X 91873637 91873637 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc X 91873637 91873637 C A SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.3742 p.P1248T 0.565 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 tier1 - - 43 0 0.00 8 16 66.67 PCDH15 0 genome.wustl.edu 37 10 56423942 56423942 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 10 56423942 56423942 C A SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.81 p.Q27H 0.845 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 47 0 0.00 41 17 29.31 PCDHA7 0 genome.wustl.edu 37 5 140215502 140215502 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 5 140215502 140215502 G A SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.1534 p.A512T 0.983 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 tier1 - - 352 0 0.00 146 51 25.89 PCDHB13 0 genome.wustl.edu 37 5 140594473 140594473 + Missense_Mutation SNP T T C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 5 140594473 140594473 T C SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known missense c.778 p.F260L 0.001 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 tier1 - - 94 0 0.00 59 43 42.16 PCDHGB7 0 genome.wustl.edu 37 5 140797861 140797861 + Silent SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 5 140797861 140797861 C A SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known silent c.435 p.S145 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 tier1 - - 46 0 0.00 53 4 7.02 PCDHGC5 0 genome.wustl.edu 37 5 140871075 140871075 + Silent SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 5 140871075 140871075 G T SNP PCDHGC5 ENST00000252087 human ensembl 74_37 +1 known silent c.2268 p.T756 0.010 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC5 HGNC ENSG00000240764 88 0 0.00 48 3 5.88 PCNT 0 genome.wustl.edu 37 21 47851826 47851826 + Silent SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 21 47851826 47851826 G A SNP PCNT ENST00000359568 human ensembl 74_37 +1 known silent c.8448 p.L2816 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 tier1 - - 42 0 0.00 16 20 55.56 PDE4DIP 0 genome.wustl.edu 37 1 145075752 145075752 + Silent SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 145075752 145075752 C T SNP PDE4DIP ENST00000369348 human ensembl 74_37 -1 known silent c.111 p.T37 0.000 NULL pfam_Spindle_assoc - no_errors PDE4DIP HGNC ENSG00000178104 153 0 0.00 80 6 6.98 PDIA3 0 genome.wustl.edu 37 15 44057747 44057747 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 15 44057747 44057747 G T SNP PDIA3 ENST00000300289 human ensembl 74_37 +1 known missense c.702 p.K234N 1.000 superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA3 HGNC ENSG00000167004 52 0 0.00 72 4 5.26 PGBD5 0 genome.wustl.edu 37 1 230498085 230498085 + Silent SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 230498085 230498085 G T SNP PGBD5 ENST00000321327 human ensembl 74_37 -1 known silent c.355 p.R119 0.000 NULL NULL - no_errors PGBD5 HGNC ENSG00000177614 tier1 - - 85 0 0.00 56 4 6.67 PHACTR2 0 genome.wustl.edu 37 6 144110003 144110003 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 144110003 144110003 C T SNP PHACTR2 ENST00000440869 human ensembl 74_37 +1 known missense c.1801 p.R601C 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR2 HGNC ENSG00000112419 tier1 - - 48 0 0.00 22 17 43.59 PHF1 0 genome.wustl.edu 37 6 33382137 33382137 + Silent SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 33382137 33382137 G T SNP PHF1 ENST00000374516 human ensembl 74_37 +1 known silent c.870 p.L290 0.989 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF1 HGNC ENSG00000112511 tier1 - - 53 0 0.00 72 4 5.26 PHIP 0 genome.wustl.edu 37 6 79692782 79692782 + Nonsense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 79692782 79692782 G A SNP PHIP ENST00000275034 human ensembl 74_37 -1 known nonsense c.2590 p.Q864* 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 tier1 - - 34 0 0.00 30 18 37.50 PHIP 0 genome.wustl.edu 37 6 79692783 79692783 + Silent SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 79692783 79692783 C A SNP PHIP ENST00000275034 human ensembl 74_37 -1 known silent c.2589 p.L863 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 tier1 - - 34 0 0.00 31 18 36.73 PIEZO2 0 genome.wustl.edu 37 18 10736690 10736690 + Missense_Mutation SNP T T C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 18 10736690 10736690 T C SNP PIEZO2 ENST00000580640 human ensembl 74_37 -1 novel missense c.4727 p.Y1576C 1.000 NULL pfam_Piezo - no_errors PIEZO2 HGNC ENSG00000154864 tier1 - - 32 0 0.00 27 12 30.77 PIF1 0 genome.wustl.edu 37 15 65108838 65108838 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 15 65108838 65108838 C T SNP PIF1 ENST00000333425 human ensembl 74_37 -1 known missense c.1801 p.V601I 1.000 superfamily_P-loop_NTPase pfam_DNA_helicase_Pif1,pfam_DNA_helicase,superfamily_P-loop_NTPase - no_errors PIF1 HGNC ENSG00000140451 tier1 - - 95 0 0.00 43 21 32.81 PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 178952085 178952085 A T SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.3140 p.H1047L 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_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_dom,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 tier1 rs121913279 - 20 0 0.00 21 13 37.14 PLA2G12B 0 genome.wustl.edu 37 10 74701076 74701076 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 10 74701076 74701076 G T SNP PLA2G12B ENST00000373032 human ensembl 74_37 -1 known missense c.317 p.P106Q 1.000 pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2_dom pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2_dom - no_errors PLA2G12B HGNC ENSG00000138308 tier1 - - 49 0 0.00 45 4 8.16 PLCD1 0 genome.wustl.edu 37 3 38049856 38049856 + Silent SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 38049856 38049856 G T SNP PLCD1 ENST00000463876 human ensembl 74_37 -1 known silent c.1968 p.V656 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD1 HGNC ENSG00000187091 tier1 - - 122 0 0.00 60 4 6.25 PPFIBP2 0 genome.wustl.edu 37 11 7669640 7669640 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 11 7669640 7669640 C A SNP PPFIBP2 ENST00000299492 human ensembl 74_37 +1 known missense c.1669 p.Q557K 1.000 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP2 HGNC ENSG00000166387 tier1 - - 28 0 0.00 18 13 40.62 PPP1R13B 0 genome.wustl.edu 37 14 104220545 104220545 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 14 104220545 104220545 G A SNP PPP1R13B ENST00000202556 human ensembl 74_37 -1 known missense c.493 p.R165C 1.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13B HGNC ENSG00000088808 tier1 - - 18 0 0.00 15 9 37.50 PPP1R3F 0 genome.wustl.edu 37 X 49137873 49137873 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc X 49137873 49137873 G T SNP PPP1R3F ENST00000055335 human ensembl 74_37 +1 known missense c.1009 p.A337S 0.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3F HGNC ENSG00000049769 tier1 - - 22 0 0.00 18 4 18.18 PPP1R9B 0 genome.wustl.edu 37 17 48211968 48211968 + RNA SNP G G C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 17 48211968 48211968 G C SNP PPP1R9B ENST00000501501 human ensembl 74_37 -1 known rna NULL NULL 0.063 - - - no_errors PPP1R9B HGNC ENSG00000108819 tier1 - - 92 0 0.00 57 5 8.06 PRIM2 0 genome.wustl.edu 37 6 57183284 57183284 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 57183284 57183284 C T SNP PRIM2 ENST00000607273 human ensembl 74_37 +1 known missense c.41 p.A14V 0.193 NULL pfam_DNA_primase_lsu_euk/arc - no_errors PRIM2 HGNC ENSG00000146143 tier1 - - 47 0 0.00 71 4 5.33 PRLHR 0 genome.wustl.edu 37 10 120354171 120354171 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 10 120354171 120354171 C T SNP PRLHR ENST00000239032 human ensembl 74_37 -1 known missense c.586 p.V196M 0.014 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PRLHR HGNC ENSG00000119973 tier1 - - 33 0 0.00 13 6 31.58 PRPF8 0 genome.wustl.edu 37 17 1582171 1582171 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 17 1582171 1582171 C T SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known missense c.1604 p.R535K 1.000 pfam_PROCN,superfamily_Histone-fold pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 tier1 - - 33 0 0.00 24 18 42.86 PRTG 0 genome.wustl.edu 37 15 55964703 55964703 + Nonsense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 15 55964703 55964703 G A SNP PRTG ENST00000389286 human ensembl 74_37 -1 known nonsense c.1981 p.Q661* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors PRTG HGNC ENSG00000166450 tier1 - - 63 0 0.00 45 26 36.62 PSMD9 0 genome.wustl.edu 37 12 122332686 122332686 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 12 122332686 122332686 G T SNP PSMD9 ENST00000541212 human ensembl 74_37 +1 known missense c.180 p.E60D 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ - no_errors PSMD9 HGNC ENSG00000110801 76 0 0.00 58 4 6.45 PTCD3 0 genome.wustl.edu 37 2 86352947 86352947 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 2 86352947 86352947 G A SNP PTCD3 ENST00000254630 human ensembl 74_37 +1 known missense c.895 p.E299K 0.998 NULL NULL - no_errors PTCD3 HGNC ENSG00000132300 61 0 0.00 73 4 5.19 PTN 0 genome.wustl.edu 37 7 136936052 136936052 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 7 136936052 136936052 G T SNP PTN ENST00000348225 human ensembl 74_37 -1 known missense c.376 p.L126M 1.000 pfam_PTN/MK_C_dom,superfamily_PTN/MK_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF pfam_PTN/MK_C_dom,pfam_PTN/MK_N_dom,superfamily_PTN/MK_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF - no_errors PTN HGNC ENSG00000105894 tier1 - - 55 0 0.00 39 18 31.58 PVRL1 0 genome.wustl.edu 37 11 119535970 119535970 + Silent SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 11 119535970 119535970 C T SNP PVRL1 ENST00000264025 human ensembl 74_37 -1 known silent c.1041 p.R347 1.000 NULL pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVRL1 HGNC ENSG00000110400 tier1 - - 25 0 0.00 15 9 37.50 PWP1 0 genome.wustl.edu 37 12 108082471 108082471 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 12 108082471 108082471 C T SNP PWP1 ENST00000412830 human ensembl 74_37 +1 known missense c.211 p.R71C 0.000 NULL 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 tier1 - - 35 0 0.00 33 13 28.26 PWWP2B 0 genome.wustl.edu 37 10 134218219 134218219 + Missense_Mutation SNP A A T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 10 134218219 134218219 A T SNP PWWP2B ENST00000305233 human ensembl 74_37 +1 known missense c.215 p.E72V 0.006 NULL pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors PWWP2B HGNC ENSG00000171813 tier1 - - 25 0 0.00 11 10 47.62 PXDNL 0 genome.wustl.edu 37 8 52366270 52366270 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 8 52366270 52366270 G T SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.1058 p.A353D 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 tier1 - - 46 0 0.00 42 18 30.00 PXN-AS1 0 genome.wustl.edu 37 12 120648834 120648834 + RNA SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 12 120648834 120648834 G T SNP PXN-AS1 ENST00000535200 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PXN-AS1 HGNC ENSG00000255857 tier1 - - 23 0 0.00 9 24 72.73 PYDC1 0 genome.wustl.edu 37 16 31228224 31228224 + Silent SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 16 31228224 31228224 G A SNP PYDC1 ENST00000302964 human ensembl 74_37 -1 known silent c.126 p.G42 0.000 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN - no_errors PYDC1 HGNC ENSG00000169900 tier1 - - 56 0 0.00 18 10 35.71 RBM24 0 genome.wustl.edu 37 6 17291124 17291124 + RNA SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 17291124 17291124 G T SNP RBM24 ENST00000508508 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RBM24 HGNC ENSG00000112183 tier1 - - 22 0 0.00 20 15 42.86 RBM25 0 genome.wustl.edu 37 14 73576165 73576165 + Nonsense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 14 73576165 73576165 G T SNP RBM25 ENST00000261973 human ensembl 74_37 +1 known nonsense c.1657 p.E553* 1.000 NULL pfam_PWI_dom,pfam_RRM_dom,superfamily_PWI_dom,smart_RRM_dom,smart_PWI_dom,pfscan_RRM_dom - no_errors RBM25 HGNC ENSG00000119707 tier1 - - 41 0 0.00 45 4 8.16 RELN 0 genome.wustl.edu 37 7 103175830 103175830 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 7 103175830 103175830 G A SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.7282 p.R2428W 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 39 0 0.00 38 2 5.00 RGS22 0 genome.wustl.edu 37 8 101074951 101074951 + Missense_Mutation SNP A A G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 8 101074951 101074951 A G SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known missense c.1382 p.L461P 1.000 superfamily_Regulat_G_prot_signal_superfam pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 tier1 - - 11 0 0.00 42 7 14.29 RHO 0 genome.wustl.edu 37 3 129251606 129251606 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 129251606 129251606 G A SNP RHO ENST00000296271 human ensembl 74_37 +1 known missense c.927 p.M309I 1.000 pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_Rhodopsin_N,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Rhodopsin,prints_GPCR_Rhodpsn,prints_Opsin - no_errors RHO HGNC ENSG00000163914 tier1 - - 50 0 0.00 14 12 46.15 RHOA 0 genome.wustl.edu 37 3 49412922 49412922 + Missense_Mutation SNP T T C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 49412922 49412922 T C SNP RHOA ENST00000418115 human ensembl 74_37 -1 known missense c.101 p.Y34C 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 tier1 - - 49 0 0.00 49 13 20.97 RNPEPL1 0 genome.wustl.edu 37 2 241513671 241513671 + Silent SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 2 241513671 241513671 C T SNP RNPEPL1 ENST00000270357 human ensembl 74_37 +1 known silent c.387 p.F129 0.780 pfam_Peptidase_M1_N,prints_Peptidase_M1_N pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEPL1 HGNC ENSG00000142327 tier1 - - 55 0 0.00 18 12 40.00 RPAP1 0 genome.wustl.edu 37 15 41813145 41813145 + Missense_Mutation SNP T T C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 15 41813145 41813145 T C SNP RPAP1 ENST00000304330 human ensembl 74_37 -1 known missense c.3239 p.E1080G 0.930 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 162 0 0.00 41 4 8.89 RRP9 0 genome.wustl.edu 37 3 51968680 51968680 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 51968680 51968680 C T SNP RRP9 ENST00000232888 human ensembl 74_37 -1 known missense c.1147 p.A383T 0.997 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat 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 RRP9 HGNC ENSG00000114767 41 0 0.00 23 2 8.00 S1PR4 0 genome.wustl.edu 37 19 3179168 3179168 + Silent SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 3179168 3179168 C T SNP S1PR4 ENST00000246115 human ensembl 74_37 +1 known silent c.378 p.F126 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_S1P_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG6_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn - no_errors S1PR4 HGNC ENSG00000125910 tier1 - - 26 0 0.00 4 7 63.64 SCAP 0 genome.wustl.edu 37 3 47467001 47467001 + Silent SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 47467001 47467001 G A SNP SCAP ENST00000265565 human ensembl 74_37 -1 known silent c.1011 p.F337 1.000 pfam_Patched,pfscan_SSD pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SCAP HGNC ENSG00000114650 55 0 0.00 34 2 5.56 SEC14L2 0 genome.wustl.edu 37 22 30812323 30812323 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 22 30812323 30812323 C T SNP SEC14L2 ENST00000312932 human ensembl 74_37 +1 known missense c.1012 p.P338S 0.021 superfamily_GOLD,pfscan_GOLD pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L2 HGNC ENSG00000100003 52 0 0.00 51 3 5.56 SEMA3A 0 genome.wustl.edu 37 7 83591086 83591086 + Silent SNP T T C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 7 83591086 83591086 T C SNP SEMA3A ENST00000265362 human ensembl 74_37 -1 known silent c.1917 p.L639 0.001 smart_Ig_sub,pfscan_Ig-like_dom pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3A HGNC ENSG00000075213 tier1 - - 35 0 0.00 30 19 38.78 SENP8 0 genome.wustl.edu 37 15 72432600 72432600 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 15 72432600 72432600 G T SNP SENP8 ENST00000340912 human ensembl 74_37 +1 known missense c.636 p.K212N 0.699 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP8 HGNC ENSG00000166192 tier1 - - 8 0 0.00 19 8 29.63 SERPINA9 0 genome.wustl.edu 37 14 94935585 94935585 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 14 94935585 94935585 G A SNP SERPINA9 ENST00000337425 human ensembl 74_37 -1 known missense c.647 p.T216M 0.250 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA9 HGNC ENSG00000170054 tier1 - - 56 0 0.00 16 18 52.94 SHISA6 0 genome.wustl.edu 37 17 11459150 11459150 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 17 11459150 11459150 C A SNP SHISA6 ENST00000441885 human ensembl 74_37 +1 known missense c.1046 p.P349Q 1.000 NULL NULL - no_errors SHISA6 HGNC ENSG00000188803 tier1 - - 56 0 0.00 37 20 35.09 SHROOM2 0 genome.wustl.edu 37 X 9905301 9905301 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc X 9905301 9905301 C T SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known missense c.3715 p.P1239S 1.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 tier1 - - 62 0 0.00 11 19 63.33 SI 0 genome.wustl.edu 37 3 164735587 164735587 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 164735587 164735587 C A SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.3595 p.G1199C 1.000 pfam_Glyco_hydro_31,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 tier1 - - 45 0 0.00 35 21 37.50 SIX6 0 genome.wustl.edu 37 14 60976162 60976162 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 14 60976162 60976162 G T SNP SIX6 ENST00000327720 human ensembl 74_37 +1 known missense c.46 p.G16W 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX6 HGNC ENSG00000184302 tier1 - - 42 0 0.00 14 8 36.36 SKIV2L2 0 genome.wustl.edu 37 5 54718789 54718789 + Missense_Mutation SNP C C G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 5 54718789 54718789 C G SNP SKIV2L2 ENST00000230640 human ensembl 74_37 +1 known missense c.3055 p.L1019V 1.000 pfam_DSH_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC ENSG00000039123 tier1 - - 24 0 0.00 43 17 28.33 SKOR1 0 genome.wustl.edu 37 15 68119388 68119388 + Frame_Shift_Del DEL A A - TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 15 68119388 68119388 A 0 DEL SKOR1 ENST00000380035 human ensembl 74_37 +1 known frame_shift_del c.1222 p.K409fs 1.000 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 16 0 0.00 4 2 33.33 SLC17A6 0 genome.wustl.edu 37 11 22360142 22360142 + Frame_Shift_Del DEL A A - TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 11 22360142 22360142 A - DEL SLC17A6 ENST00000263160 human ensembl 74_37 +1 known frame_shift_del c.63 p.K22fs 0.999 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 tier1 39 0 0.00 38 2 5.00 SLC19A3 0 genome.wustl.edu 37 2 228566913 228566913 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 2 228566913 228566913 C A SNP SLC19A3 ENST00000258403 human ensembl 74_37 -1 known missense c.122 p.G41V 1.000 pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A3 HGNC ENSG00000135917 tier1 - - 39 0 0.00 52 9 14.75 SLC24A1 0 genome.wustl.edu 37 15 65916439 65916439 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 15 65916439 65916439 G A SNP SLC24A1 ENST00000261892 human ensembl 74_37 +1 known missense c.21 p.M7I 0.040 tigrfam_K-dep_Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A1 HGNC ENSG00000074621 tier1 - - 41 0 0.00 25 13 34.21 SMARCA4 0 genome.wustl.edu 37 19 11143993 11143993 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 11143993 11143993 C T SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.3574 p.R1192C 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 tier1 - - 53 0 0.00 20 20 48.78 SMC4 0 genome.wustl.edu 37 3 160138588 160138588 + Silent SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 160138588 160138588 C T SNP SMC4 ENST00000344722 human ensembl 74_37 +1 known silent c.1918 p.L640 0.434 pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 tier1 - - 52 0 0.00 70 37 34.58 SMG8 0 genome.wustl.edu 37 17 57288293 57288293 + Missense_Mutation SNP A A G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 17 57288293 57288293 A G SNP SMG8 ENST00000300917 human ensembl 74_37 +1 known missense c.881 p.H294R 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 tier1 - - 33 0 0.00 19 12 38.71 SMIM21 0 genome.wustl.edu 37 18 73139414 73139414 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 18 73139414 73139414 C A SNP SMIM21 ENST00000579022 human ensembl 74_37 -1 known missense c.105 p.L35F 0.000 NULL NULL - no_errors SMIM21 HGNC ENSG00000206026 tier1 - - 66 0 0.00 50 19 27.54 SMPD1 0 genome.wustl.edu 37 11 6413037 6413037 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 11 6413037 6413037 G A SNP SMPD1 ENST00000342245 human ensembl 74_37 +1 known missense c.742 p.E248K 0.990 pfam_PEstase_dom,pirsf_Sphingomy_PDE pfam_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB - no_errors SMPD1 HGNC ENSG00000166311 tier1 rs200763423 - 27 0 0.00 10 6 37.50 SNHG14 0 genome.wustl.edu 37 15 25467313 25467313 + RNA SNP C C G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 15 25467313 25467313 C G SNP SNHG14 ENST00000424208 human ensembl 74_37 +1 known rna NULL NULL 0.253 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 21 0 0.00 6 3 33.33 SNORD3D 0 genome.wustl.edu 37 17 19015738 19015738 + RNA SNP T T C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 17 19015738 19015738 T C SNP SNORD3D ENST00000362793 human ensembl 74_37 -1 known rna NULL NULL 0.097 - - - no_errors SNORD3D HGNC ENSG00000262202 tier1 - - 41 0 0.00 18 5 21.74 SNRNP40 0 genome.wustl.edu 37 1 31732677 31732677 + RNA SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 31732677 31732677 G A SNP SNRNP40 ENST00000486941 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors SNRNP40 HGNC ENSG00000060688 tier1 - - 33 0 0.00 44 5 10.20 SORBS2 0 genome.wustl.edu 37 4 186583259 186583259 + Silent SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 4 186583259 186583259 G A SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known silent c.93 p.L31 0.120 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 77 0 0.00 34 2 5.56 SPAG17 0 genome.wustl.edu 37 1 118514619 118514619 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 118514619 118514619 C A SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.6193 p.A2065S 0.170 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 tier1 - - 43 0 0.00 45 28 37.84 SPINT2 0 genome.wustl.edu 37 19 38780792 38780792 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 38780792 38780792 G T SNP SPINT2 ENST00000301244 human ensembl 74_37 +1 known missense c.425 p.C142F 1.000 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors SPINT2 HGNC ENSG00000167642 tier1 - - 70 0 0.00 50 4 7.41 SPOPL 0 genome.wustl.edu 37 2 139308582 139308582 + Missense_Mutation SNP T T A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 2 139308582 139308582 T A SNP SPOPL ENST00000280098 human ensembl 74_37 +1 known missense c.310 p.F104I 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH - no_errors SPOPL HGNC ENSG00000144228 tier1 - - 28 0 0.00 50 22 30.56 SREBF1 0 genome.wustl.edu 37 17 17719808 17719808 + Silent SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 17 17719808 17719808 G A SNP SREBF1 ENST00000355815 human ensembl 74_37 -1 known silent c.2100 p.A700 0.981 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF1 HGNC ENSG00000072310 tier1 - - 96 0 0.00 29 24 45.28 ST6GALNAC6 0 genome.wustl.edu 37 9 130656797 130656797 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 9 130656797 130656797 G T SNP ST6GALNAC6 ENST00000542456 human ensembl 74_37 -1 known missense c.98 p.A33E 1.000 NULL pfam_Glyco_trans_29 - no_errors ST6GALNAC6 HGNC ENSG00000160408 tier1 - - 92 0 0.00 33 19 36.54 STAG3L5P-PVRIG2P-PILRB 0 genome.wustl.edu 37 7 99933888 99933888 + RNA SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 7 99933888 99933888 C T SNP STAG3L5P-PVRIG2P-PILRB ENST00000310771 human ensembl 74_37 +1 known rna NULL NULL 0.712 - - - no_errors STAG3L5P-PVRIG2P-PILRB HGNC ENSG00000272752 tier1 - - 200 0 0.00 70 39 35.78 STK19 0 genome.wustl.edu 37 6 31948477 31948477 + Silent SNP A A G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 31948477 31948477 A G SNP STK19 ENST00000375333 human ensembl 74_37 +1 known silent c.960 p.E320 0.997 pfam_Ser/Thr_kinase_19 pfam_Ser/Thr_kinase_19 - no_errors STK19 HGNC ENSG00000204344 tier1 rs7743469 - 83 0 0.00 56 10 15.15 STK4 0 genome.wustl.edu 37 20 43607120 43607120 + Silent SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 20 43607120 43607120 G A SNP STK4 ENST00000372806 human ensembl 74_37 +1 known silent c.153 p.E51 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Mst1_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK4 HGNC ENSG00000101109 tier1 - - 37 0 0.00 48 33 40.74 SYNE1 0 genome.wustl.edu 37 6 152680459 152680459 + Missense_Mutation SNP C C G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 152680459 152680459 C G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.10434 p.E3478D 0.993 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 78 0 0.00 96 6 5.88 SYNE1 0 genome.wustl.edu 37 6 152751308 152751308 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 152751308 152751308 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.4727 p.A1576V 0.994 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 33 0 0.00 51 4 7.27 SYTL2 0 genome.wustl.edu 37 11 85435209 85435209 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 11 85435209 85435209 G T SNP SYTL2 ENST00000359152 human ensembl 74_37 -1 known missense c.3863 p.T1288K 0.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 16 0 0.00 61 4 6.15 TBC1D22B 0 genome.wustl.edu 37 6 37281657 37281657 + Silent SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 37281657 37281657 C T SNP TBC1D22B ENST00000373491 human ensembl 74_37 +1 known silent c.1155 p.S385 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22B HGNC ENSG00000065491 47 0 0.00 59 4 6.35 TBC1D31 0 genome.wustl.edu 37 8 124140537 124140537 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 8 124140537 124140537 G A SNP TBC1D31 ENST00000287380 human ensembl 74_37 +1 known missense c.1901 p.R634Q 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors TBC1D31 HGNC ENSG00000156787 tier1 - - 18 0 0.00 55 23 29.49 TBC1D5 0 genome.wustl.edu 37 3 17470011 17470011 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 17470011 17470011 C A SNP TBC1D5 ENST00000253692 human ensembl 74_37 -1 known missense c.98 p.G33V 0.996 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D5 HGNC ENSG00000131374 tier1 - - 86 0 0.00 89 60 40.27 TCP10 0 genome.wustl.edu 37 6 167794750 167794750 + Missense_Mutation SNP T T G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 167794750 167794750 T G SNP TCP10 ENST00000397829 human ensembl 74_37 -1 known missense c.138 p.R46S 0.000 NULL NULL - no_errors TCP10 HGNC ENSG00000203690 tier1 - - 32 0 0.00 8 6 42.86 TENM4 0 genome.wustl.edu 37 11 78369429 78369429 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 11 78369429 78369429 G T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.7984 p.R2662S 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 tier1 - - 42 0 0.00 21 13 37.14 TET1 0 genome.wustl.edu 37 10 70332885 70332885 + Nonsense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 10 70332885 70332885 G T SNP TET1 ENST00000373644 human ensembl 74_37 +1 known nonsense c.790 p.G264* 0.986 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 67 0 0.00 62 4 6.06 TFAP2A 0 genome.wustl.edu 37 6 10400783 10400783 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 10400783 10400783 C A SNP TFAP2A ENST00000379604 human ensembl 74_37 -1 known missense c.923 p.C308F 1.000 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N - no_errors TFAP2A HGNC ENSG00000137203 tier1 - - 40 0 0.00 32 11 25.58 TGFBR1 0 genome.wustl.edu 37 9 101907161 101907161 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 9 101907161 101907161 G A SNP TGFBR1 ENST00000374994 human ensembl 74_37 +1 known missense c.1121 p.G374E 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,superfamily_Quinolinate_PRibosylTrfase_C,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TGFBR1 HGNC ENSG00000106799 tier1 - - 52 0 0.00 41 21 33.87 THSD7B 0 genome.wustl.edu 37 2 138033559 138033559 + Silent SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 2 138033559 138033559 C A SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known silent c.2463 p.G821 0.190 superfamily_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 - - 68 0 0.00 49 40 44.94 TJP3 0 genome.wustl.edu 37 19 3734314 3734314 + Silent SNP T T C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 3734314 3734314 T C SNP TJP3 ENST00000262968 human ensembl 74_37 +1 known silent c.966 p.S322 0.000 NULL pfam_PDZ,pfam_SH3_2,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS3,prints_ZonOcculdens - no_errors TJP3 HGNC ENSG00000105289 tier1 - - 122 0 0.00 59 5 7.81 TMA7 0 genome.wustl.edu 37 3 48482033 48482033 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 3 48482033 48482033 C T SNP TMA7 ENST00000438607 human ensembl 74_37 +1 known missense c.155 p.P52L 1.000 pfam_TMA7 pfam_TMA7 - no_errors TMA7 HGNC ENSG00000232112 tier1 - - 85 0 0.00 28 12 30.00 TMEM101 0 genome.wustl.edu 37 17 42092301 42092301 + Nonsense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 17 42092301 42092301 G T SNP TMEM101 ENST00000206380 human ensembl 74_37 -1 known nonsense c.20 p.S7* 1.000 NULL NULL - no_errors TMEM101 HGNC ENSG00000091947 tier1 - - 52 0 0.00 11 15 57.69 TMEM161A 0 genome.wustl.edu 37 19 19243553 19243553 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 19243553 19243553 C T SNP TMEM161A ENST00000162044 human ensembl 74_37 -1 known missense c.199 p.G67S 1.000 pfam_Transmembrane_161A/B pfam_Transmembrane_161A/B - no_errors TMEM161A HGNC ENSG00000064545 tier1 - - 55 0 0.00 23 12 34.29 TMEM35 0 genome.wustl.edu 37 X 100349693 100349693 + Silent SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc X 100349693 100349693 G T SNP TMEM35 ENST00000372930 human ensembl 74_37 +1 known silent c.252 p.G84 0.383 NULL NULL - no_errors TMEM35 HGNC ENSG00000126950 24 0 0.00 19 4 17.39 TMEM72 0 genome.wustl.edu 37 10 45430542 45430542 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 10 45430542 45430542 C T SNP TMEM72 ENST00000544540 human ensembl 74_37 +1 known missense c.434 p.P145L 0.105 NULL NULL - no_errors TMEM72 HGNC ENSG00000187783 tier1 - - 33 0 0.00 17 7 29.17 TP53 0 genome.wustl.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 17 7577120 7577120 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.818 p.R273H 0.864 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs28934576 GMAF=0.0005 36 0 0.00 19 14 42.42 TPH1 0 genome.wustl.edu 37 11 18062306 18062306 + Missense_Mutation SNP T T A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 11 18062306 18062306 T A SNP TPH1 ENST00000341556 human ensembl 74_37 -1 known missense c.4 p.I2F 1.000 pirsf_Tyrosine_3-monooxygenase-like pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH1 HGNC ENSG00000129167 tier1 - - 59 0 0.00 40 40 50.00 TRAF3IP1 0 genome.wustl.edu 37 2 239242647 239242647 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 2 239242647 239242647 C T SNP TRAF3IP1 ENST00000373327 human ensembl 74_37 +1 known missense c.1034 p.S345L 0.570 NULL NULL - no_errors TRAF3IP1 HGNC ENSG00000204104 75 0 0.00 71 4 5.33 TRIB3 0 genome.wustl.edu 37 20 377203 377203 + Nonsense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 20 377203 377203 C T SNP TRIB3 ENST00000422053 human ensembl 74_37 +1 known nonsense c.1027 p.R343* 0.013 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors TRIB3 HGNC ENSG00000101255 tier1 - - 59 0 0.00 18 10 35.71 TRIM66 0 genome.wustl.edu 37 11 8665968 8665968 + RNA SNP T T G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 11 8665968 8665968 T G SNP TRIM66 ENST00000531498 human ensembl 74_37 -1 known rna NULL NULL 0.875 - - - no_errors TRIM66 HGNC ENSG00000166436 tier1 - - 18 0 0.00 27 13 32.50 TRIO 0 genome.wustl.edu 37 5 14358418 14358418 + Silent SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 5 14358418 14358418 C T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known silent c.2178 p.N726 1.000 smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 tier1 - - 60 0 0.00 26 11 29.73 TRPM6 0 genome.wustl.edu 37 9 77397639 77397639 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 9 77397639 77397639 G T SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.3050 p.P1017Q 1.000 pfam_Ion_trans_dom pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 23 0 0.00 40 4 9.09 TRUB1 0 genome.wustl.edu 37 10 116735069 116735069 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 10 116735069 116735069 G T SNP TRUB1 ENST00000298746 human ensembl 74_37 +1 known missense c.981 p.Q327H 0.046 superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB - no_errors TRUB1 HGNC ENSG00000165832 19 0 0.00 42 3 6.67 TSHZ3 0 genome.wustl.edu 37 19 31770039 31770039 + Silent SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 31770039 31770039 G A SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known silent c.660 p.S220 0.997 smart_Znf_C2H2-like superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 tier1 - - 84 0 0.00 31 14 31.11 TSLP 0 genome.wustl.edu 37 5 110411672 110411672 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 5 110411672 110411672 G T SNP TSLP ENST00000344895 human ensembl 74_37 +1 known missense c.380 p.R127M 0.000 NULL NULL - no_errors TSLP HGNC ENSG00000145777 tier1 - - 28 0 0.00 18 19 51.35 TSSC2 0 genome.wustl.edu 37 11 3423919 3423919 + RNA SNP C C G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 11 3423919 3423919 C G SNP TSSC2 ENST00000529482 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors TSSC2 HGNC ENSG00000223756 tier1 - - 147 0 0.00 47 29 38.16 TTLL13 0 genome.wustl.edu 37 15 90807287 90807287 + Missense_Mutation SNP A A T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 15 90807287 90807287 A T SNP TTLL13 ENST00000438251 human ensembl 74_37 +1 known missense c.2197 p.S733C 0.328 NULL pfam_TTL/TTLL_fam - no_errors TTLL13 HGNC ENSG00000213471 tier1 - - 54 0 0.00 35 21 37.50 TTLL13 0 genome.wustl.edu 37 15 90807288 90807288 + Missense_Mutation SNP G G C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 15 90807288 90807288 G C SNP TTLL13 ENST00000438251 human ensembl 74_37 +1 known missense c.2198 p.S733T 0.843 NULL pfam_TTL/TTLL_fam - no_errors TTLL13 HGNC ENSG00000213471 tier1 - - 53 0 0.00 36 19 34.55 TTN 0 genome.wustl.edu 37 2 179540447 179540447 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 2 179540447 179540447 C A SNP TTN ENST00000589042 human ensembl 74_37 -1 putative missense c.34488 p.K11496N 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 25 0 0.00 19 12 38.71 TTN 0 genome.wustl.edu 37 2 179527477 179527478 + Frame_Shift_Ins INS - - T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 2 179527477 179527478 0 T INS TTN ENST00000589042 human ensembl 74_37 -1 putative frame_shift_ins c.36853_36852 p.P12284fs 0.016:0.007 pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 24 0 0.00 16 5 23.81 TUBB 0 genome.wustl.edu 37 6 30690400 30690401 + Frame_Shift_Del DEL TG TG - TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 30690400 30690401 TG - DEL TUBB ENST00000327892 human ensembl 74_37 +1 known frame_shift_del c.144_145 p.Y50fs 0.999:1.000 pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB HGNC ENSG00000196230 tier1 106 0 0.00 44 29 39.73 TULP3 0 genome.wustl.edu 37 12 3000140 3000140 + Missense_Mutation SNP T T G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 12 3000140 3000140 T G SNP TULP3 ENST00000448120 human ensembl 74_37 +1 known missense c.27 p.S9R 0.002 NULL pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N - no_errors TULP3 HGNC ENSG00000078246 tier1 - - 142 0 0.00 33 10 23.26 TYR 0 genome.wustl.edu 37 11 88961100 88961100 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 11 88961100 88961100 C A SNP TYR ENST00000263321 human ensembl 74_37 +1 known missense c.1146 p.N382K 0.882 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 tier1 rs62645910 - 51 0 0.00 35 21 37.50 UBR3 0 genome.wustl.edu 37 2 170806482 170806482 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 2 170806482 170806482 G A SNP UBR3 ENST00000272793 human ensembl 74_37 +1 known missense c.3452 p.R1151H 1.000 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ENSG00000144357 tier1 - - 36 0 0.00 30 11 26.83 UGT3A1 0 genome.wustl.edu 37 5 35954387 35954387 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 5 35954387 35954387 G T SNP UGT3A1 ENST00000274278 human ensembl 74_37 -1 known missense c.1489 p.L497M 0.041 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A1 HGNC ENSG00000145626 83 0 0.00 46 4 8.00 UNC45B 0 genome.wustl.edu 37 17 33481676 33481676 + Silent SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 17 33481676 33481676 G A SNP UNC45B ENST00000268876 human ensembl 74_37 +1 known silent c.555 p.L185 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45B HGNC ENSG00000141161 69 0 0.00 29 2 6.45 USHBP1 0 genome.wustl.edu 37 19 17367447 17367447 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 17367447 17367447 G T SNP USHBP1 ENST00000252597 human ensembl 74_37 -1 known missense c.1303 p.R435S 0.701 NULL pfam_USH1C-bd_PDZ_domain - no_errors USHBP1 HGNC ENSG00000130307 24 0 0.00 21 2 8.70 USP28 0 genome.wustl.edu 37 11 113700044 113700044 + Missense_Mutation SNP T T C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 11 113700044 113700044 T C SNP USP28 ENST00000003302 human ensembl 74_37 -1 known missense c.934 p.T312A 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 tier1 - - 74 0 0.00 52 19 26.76 USP31 0 genome.wustl.edu 37 16 23091494 23091494 + Splice_Site SNP T T G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 16 23091494 23091494 T G SNP USP31 ENST00000219689 human ensembl 74_37 -1 known splice_site c.1951-2 e13-2 1.000 - - - no_errors USP31 HGNC ENSG00000103404 tier1 - - 21 0 0.00 24 12 33.33 UTP23 0 genome.wustl.edu 37 8 117778864 117778864 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 8 117778864 117778864 C T SNP UTP23 ENST00000309822 human ensembl 74_37 +1 known missense c.22 p.H8Y 1.000 NULL pfam_Fcf1/Utp23 - no_errors UTP23 HGNC ENSG00000147679 tier1 - - 50 0 0.00 47 7 12.96 UTRN 0 genome.wustl.edu 37 6 145124230 145124230 + Nonsense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 145124230 145124230 C T SNP UTRN ENST00000367545 human ensembl 74_37 +1 known nonsense c.9304 p.R3102* 1.000 pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_Znf_ZZ pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 tier1 - - 44 0 0.00 50 47 48.45 VCAN 0 genome.wustl.edu 37 5 82816578 82816578 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 5 82816578 82816578 C A SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.2453 p.T818K 0.894 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 tier1 - - 31 0 0.00 27 11 28.95 VWF 0 genome.wustl.edu 37 12 6132813 6132813 + Silent SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 12 6132813 6132813 C T SNP VWF ENST00000261405 human ensembl 74_37 -1 known silent c.3363 p.R1121 1.000 pirsf_VWF,pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 tier1 - - 235 0 0.00 112 57 33.73 WDFY4 0 genome.wustl.edu 37 10 49935564 49935564 + Silent SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 10 49935564 49935564 C T SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known silent c.831 p.D277 0.967 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 tier1 - - 57 0 0.00 39 17 30.36 WDR90 0 genome.wustl.edu 37 16 708985 708985 + Silent SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 16 708985 708985 C A SNP WDR90 ENST00000549091 human ensembl 74_37 +1 novel silent c.2985 p.L995 0.969 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 tier1 - - 92 0 0.00 33 29 46.77 WIPF1 0 genome.wustl.edu 37 2 175436784 175436784 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 2 175436784 175436784 G A SNP WIPF1 ENST00000272746 human ensembl 74_37 -1 known missense c.749 p.P250L 0.998 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF1 HGNC ENSG00000115935 tier1 - - 92 0 0.00 30 11 26.83 ZC3H12B 0 genome.wustl.edu 37 X 64709147 64709147 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc X 64709147 64709147 G T SNP ZC3H12B ENST00000338957 human ensembl 74_37 +1 known missense c.466 p.G156W 0.703 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 23 0 0.00 28 4 12.12 ZFP42 0 genome.wustl.edu 37 4 188924336 188924336 + Silent SNP A A G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 4 188924336 188924336 A G SNP ZFP42 ENST00000326866 human ensembl 74_37 +1 known silent c.375 p.K125 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP42 HGNC ENSG00000179059 30 0 0.00 38 2 5.00 ZNF174 0 genome.wustl.edu 37 16 3454446 3454446 + Silent SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 16 3454446 3454446 G T SNP ZNF174 ENST00000268655 human ensembl 74_37 +1 known silent c.423 p.G141 1.000 smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF174 HGNC ENSG00000103343 67 0 0.00 54 3 5.26 ZNF180 0 genome.wustl.edu 37 19 44980661 44980661 + Silent SNP A A G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 44980661 44980661 A G SNP ZNF180 ENST00000221327 human ensembl 74_37 -1 known silent c.2037 p.H679 0.994 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 ZNF180 HGNC ENSG00000167384 tier1 - - 27 0 0.00 36 16 30.77 ZNF200 0 genome.wustl.edu 37 16 3283719 3283719 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 16 3283719 3283719 G T SNP ZNF200 ENST00000414144 human ensembl 74_37 -1 known missense c.37 p.P13T 0.996 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF200 HGNC ENSG00000010539 tier1 - - 89 0 0.00 65 4 5.71 ZNF251 0 genome.wustl.edu 37 8 145947949 145947949 + Missense_Mutation SNP G G C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 8 145947949 145947949 G C SNP ZNF251 ENST00000292562 human ensembl 74_37 -1 known missense c.1096 p.Q366E 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF251 HGNC ENSG00000198169 tier1 - - 28 0 0.00 82 12 12.63 ZNF280D 0 genome.wustl.edu 37 15 56946703 56946704 + Splice_Site INS - - A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 15 56946703 56946704 - A INS ZNF280D ENST00000267807 human ensembl 74_37 -1 known splice_site_ins c.2058-3_2058-2 e16-2 1.000:0.001 - - - no_errors ZNF280D HGNC ENSG00000137871 tier1 38 0 0.00 58 22 27.50 ZNF32 0 genome.wustl.edu 37 10 44139887 44139887 + Silent SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 10 44139887 44139887 G T SNP ZNF32 ENST00000374433 human ensembl 74_37 -1 known silent c.433 p.R145 0.147 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF32 HGNC ENSG00000169740 25 0 0.00 37 2 5.13 ZNF320 0 genome.wustl.edu 37 19 53385108 53385108 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 53385108 53385108 C T SNP ZNF320 ENST00000391781 human ensembl 74_37 -1 known missense c.271 p.E91K 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 ZNF320 HGNC ENSG00000182986 tier1 - - 56 0 0.00 76 32 29.36 ZNF461 0 genome.wustl.edu 37 19 37128585 37128586 + RNA DEL AA AA - TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 37128585 37128586 AA - DEL ZNF461 ENST00000589442 human ensembl 74_37 -1 known rna NULL NULL 0.035:0.037 - - - no_errors ZNF461 HGNC ENSG00000197808 tier1 29 0 0.00 43 12 21.82 ZNF534 0 genome.wustl.edu 37 19 52954490 52954490 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 52954490 52954490 C T SNP ZNF534 ENST00000301085 human ensembl 74_37 +1 putative missense c.322 p.R108C 0.005 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF534 HGNC ENSG00000198633 tier1 - - 129 0 0.00 40 32 44.44 ZNF644 0 genome.wustl.edu 37 1 91405831 91405831 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 91405831 91405831 G T SNP ZNF644 ENST00000337393 human ensembl 74_37 -1 known missense c.1080 p.F360L 0.985 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 tier1 - - 31 0 0.00 56 4 6.67 ZNF714 0 genome.wustl.edu 37 19 21300459 21300460 + Frame_Shift_Del DEL AT AT - TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 21300459 21300460 AT 0 DEL ZNF714 ENST00000596143 human ensembl 74_37 +1 known frame_shift_del c.989_990 p.H330fs 0.995:0.991 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF714 HGNC ENSG00000160352 25 0 0.00 31 8 20.51 ZNF775 0 genome.wustl.edu 37 7 150093755 150093755 + Silent SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 7 150093755 150093755 C T SNP ZNF775 ENST00000329630 human ensembl 74_37 +1 known silent c.186 p.A62 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF775 HGNC ENSG00000196456 27 0 0.00 10 3 23.08 ZNF790-AS1 0 genome.wustl.edu 37 19 37314712 37314712 + RNA SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 19 37314712 37314712 C A SNP ZNF790-AS1 ENST00000588906 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors CTD-2162K18.5 Clone_based_vega_gene ENSG00000267254 tier1 - - 35 0 0.00 53 4 7.02 ZNF804A 0 genome.wustl.edu 37 2 185801665 185801665 + Silent SNP A A G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 2 185801665 185801665 A G SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known silent c.1542 p.G514 0.001 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 33 0 0.00 55 3 5.17 ZSWIM5 0 genome.wustl.edu 37 1 45484252 45484252 + Missense_Mutation SNP C C A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 45484252 45484252 C A SNP ZSWIM5 ENST00000359600 human ensembl 74_37 -1 known missense c.3432 p.K1144N 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM5 HGNC ENSG00000162415 tier1 - - 85 0 0.00 44 19 30.16 ZUFSP 0 genome.wustl.edu 37 6 116987880 116987880 + Missense_Mutation SNP C C G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 6 116987880 116987880 C G SNP ZUFSP ENST00000368576 human ensembl 74_37 -1 known missense c.476 p.C159S 1.000 smart_Znf_C2H2-like pfam_Peptidase_C78_UfSP1/2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZUFSP HGNC ENSG00000153975 tier1 - - 39 0 0.00 49 22 30.99 ZYG11B 0 genome.wustl.edu 37 1 53222263 53222263 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8cfef47-b2bf-4243-ba74-b5450dd7b169 56632598-9ac5-4421-9af1-e982f8aeeabc 1 53222263 53222263 C T SNP ZYG11B ENST00000294353 human ensembl 74_37 +1 known missense c.164 p.A55V 1.000 NULL superfamily_ARM-type_fold - no_errors ZYG11B HGNC ENSG00000162378 28 0 0.00 35 4 10.26