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 ABCA6 0 genome.wustl.edu 37 17 67092434 67092434 + Missense_Mutation SNP T T C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 17 67092434 67092434 T C SNP ABCA6 ENST00000284425 human ensembl 74_37 -1 known missense c.3355 p.I1119V 0.972 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 tier1 - - 182 0 0.00 82 59 41.84 ABL1 0 genome.wustl.edu 37 9 133750256 133750256 + Missense_Mutation SNP G G C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 9 133750256 133750256 G C SNP ABL1 ENST00000372348 human ensembl 74_37 +1 known missense c.1144 p.D382H 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,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 tier1 - - 83 0 0.00 55 10 15.38 ACAT1 0 genome.wustl.edu 37 11 108005929 108005930 + Frame_Shift_Ins INS - - CT TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 11 108005929 108005930 - CT INS ACAT1 ENST00000265838 human ensembl 74_37 +1 known frame_shift_ins c.395_396 p.I133fs 1.000:1.000 pfam_Thiolase_N,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAT1 HGNC ENSG00000075239 tier1 66 0 0.00 33 10 23.26 ACTN2 0 genome.wustl.edu 37 1 236908039 236908039 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 236908039 236908039 C T SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.1369 p.R457C 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 23 0 0.00 36 3 7.69 ACTR5 0 genome.wustl.edu 37 20 37380838 37380838 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 20 37380838 37380838 C T SNP ACTR5 ENST00000243903 human ensembl 74_37 +1 known missense c.670 p.R224C 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR5 HGNC ENSG00000101442 46 0 0.00 59 4 6.35 ADAM20 0 genome.wustl.edu 37 14 70989758 70989759 + Frame_Shift_Ins INS - - A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 14 70989758 70989759 - A INS ADAM20 ENST00000256389 human ensembl 74_37 -1 known frame_shift_ins c.1867_1866 p.P622fs 0.182:0.156 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM20 HGNC ENSG00000134007 tier1 22 0 0.00 21 13 38.24 ADAM23 0 genome.wustl.edu 37 2 207452097 207452097 + Nonsense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 2 207452097 207452097 C T SNP ADAM23 ENST00000264377 human ensembl 74_37 +1 known nonsense c.1786 p.Q596* 1.000 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 tier1 - - 221 0 0.00 152 11 6.75 ADPRHL1 0 genome.wustl.edu 37 13 114079399 114079399 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 13 114079399 114079399 G T SNP ADPRHL1 ENST00000375418 human ensembl 74_37 -1 known missense c.742 p.P248T 1.000 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro - no_errors ADPRHL1 HGNC ENSG00000153531 tier1 - - 64 0 0.00 52 4 7.14 AHNAK2 0 genome.wustl.edu 37 14 105416927 105416927 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 14 105416927 105416927 G T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.4861 p.L1621M 0.129 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 76 0 0.00 66 5 7.04 AMDHD1 0 genome.wustl.edu 37 12 96350673 96350673 + Missense_Mutation SNP G G C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 12 96350673 96350673 G C SNP AMDHD1 ENST00000266736 human ensembl 74_37 +1 known missense c.520 p.E174Q 0.990 superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI - no_errors AMDHD1 HGNC ENSG00000139344 tier1 - - 53 0 0.00 53 8 13.11 ANAPC5 0 genome.wustl.edu 37 12 121775156 121775156 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 12 121775156 121775156 G T SNP ANAPC5 ENST00000261819 human ensembl 74_37 -1 known missense c.697 p.P233T 1.000 NULL smart_TPR_repeat - no_errors ANAPC5 HGNC ENSG00000089053 44 0 0.00 42 3 6.67 ANK2 0 genome.wustl.edu 37 4 114161714 114161714 + Missense_Mutation SNP G G C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 4 114161714 114161714 G C SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.767 p.G256A 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 59 0 0.00 35 2 5.41 ANK2 0 genome.wustl.edu 37 4 114278214 114278214 + Missense_Mutation SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 4 114278214 114278214 C A SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.8440 p.L2814I 0.001 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 36 0 0.00 24 2 7.69 ANO3 0 genome.wustl.edu 37 11 26655812 26655812 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 11 26655812 26655812 G T SNP ANO3 ENST00000256737 human ensembl 74_37 +1 known missense c.1935 p.Q645H 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 tier1 - - 35 0 0.00 50 4 7.41 AOAH 0 genome.wustl.edu 37 7 36561702 36561702 + Missense_Mutation SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 7 36561702 36561702 C A SNP AOAH ENST00000258749 human ensembl 74_37 -1 known missense c.1542 p.K514N 0.839 pfam_Lipase_GDSL pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB - no_errors AOAH HGNC ENSG00000136250 tier1 - - 64 0 0.00 52 4 7.14 APOBEC3G 0 genome.wustl.edu 37 22 39479862 39479862 + Silent SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 22 39479862 39479862 C T SNP APOBEC3G ENST00000407997 human ensembl 74_37 +1 known silent c.708 p.N236 0.000 pfam_APOBEC_N pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3G HGNC ENSG00000239713 55 0 0.00 54 4 6.90 ARHGAP24 0 genome.wustl.edu 37 4 86916532 86916532 + Silent SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 4 86916532 86916532 C A SNP ARHGAP24 ENST00000395184 human ensembl 74_37 +1 known silent c.1725 p.T575 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 tier1 - - 80 0 0.00 59 4 6.35 ARHGEF26 0 genome.wustl.edu 37 3 153935706 153935706 + Missense_Mutation SNP A A T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 3 153935706 153935706 A T SNP ARHGEF26 ENST00000356448 human ensembl 74_37 +1 known missense c.1894 p.M632L 1.000 superfamily_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF26 HGNC ENSG00000114790 tier1 - - 89 0 0.00 94 7 6.86 ARL13A 0 genome.wustl.edu 37 X 100241808 100241808 + Missense_Mutation SNP A A G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 X 100241808 100241808 A G SNP ARL13A ENST00000450457 human ensembl 74_37 +1 known missense c.404 p.K135R 0.458 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR - no_errors ARL13A HGNC ENSG00000174225 tier1 - - 21 0 0.00 17 3 15.00 ATM 0 genome.wustl.edu 37 11 108121696 108121696 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 11 108121696 108121696 G T SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.1504 p.A502S 0.841 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 tier1 - - 60 0 0.00 51 4 7.27 ATP10B 0 genome.wustl.edu 37 5 159992805 159992805 + Silent SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 5 159992805 159992805 C T SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known silent c.4041 p.Q1347 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 43 0 0.00 28 3 9.68 BANP 0 genome.wustl.edu 37 16 88052199 88052199 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 16 88052199 88052199 C T SNP BANP ENST00000286122 human ensembl 74_37 +1 known missense c.797 p.A266V 1.000 pfam_BEN_domain pfam_BEN_domain - no_errors BANP HGNC ENSG00000172530 tier1 - - 81 0 0.00 58 4 6.45 BBS7 0 genome.wustl.edu 37 4 122789143 122789143 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 4 122789143 122789143 G A SNP BBS7 ENST00000264499 human ensembl 74_37 -1 known missense c.95 p.T32I 1.000 pirsf_Bardet-Biedl_syndrome_7_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot - no_errors BBS7 HGNC ENSG00000138686 tier1 - - 59 0 0.00 67 4 5.63 BHMT2 0 genome.wustl.edu 37 5 78376682 78376682 + Missense_Mutation SNP T T C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 5 78376682 78376682 T C SNP BHMT2 ENST00000255192 human ensembl 74_37 +1 known missense c.431 p.V144A 1.000 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase - no_errors BHMT2 HGNC ENSG00000132840 tier1 - - 64 0 0.00 48 13 21.31 BTBD6 0 genome.wustl.edu 37 14 105716550 105716550 + Silent SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 14 105716550 105716550 C T SNP BTBD6 ENST00000392554 human ensembl 74_37 +1 known silent c.999 p.L333 0.016 NULL pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD6 HGNC ENSG00000184887 tier1 - - 26 0 0.00 16 11 40.74 BTN1A1 0 genome.wustl.edu 37 6 26509061 26509061 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 6 26509061 26509061 C T SNP BTN1A1 ENST00000244513 human ensembl 74_37 +1 known missense c.1240 p.P414S 0.346 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTN1A1 HGNC ENSG00000124557 52 0 0.00 51 3 5.56 C1orf52 0 genome.wustl.edu 37 1 85725158 85725158 + Silent SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 85725158 85725158 C T SNP C1orf52 ENST00000471115 human ensembl 74_37 -1 known silent c.159 p.E53 1.000 NULL NULL - no_errors C1orf52 HGNC ENSG00000162642 tier1 - - 139 0 0.00 135 22 14.01 C20orf202 0 genome.wustl.edu 37 20 1187643 1187643 + Missense_Mutation SNP G G C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 20 1187643 1187643 G C SNP C20orf202 ENST00000400633 human ensembl 74_37 +1 known missense c.266 p.R89T 0.133 NULL NULL - no_errors C20orf202 HGNC ENSG00000215595 tier1 - - 75 0 0.00 43 6 12.24 C3 0 genome.wustl.edu 37 19 6710693 6710693 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 6710693 6710693 G A SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.1643 p.A548V 1.000 pfam_A2M_N_2 pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 64 0 0.00 70 4 5.41 C7orf63 0 genome.wustl.edu 37 7 89917577 89917577 + Missense_Mutation SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 7 89917577 89917577 C G SNP C7orf63 ENST00000389297 human ensembl 74_37 +1 known missense c.1686 p.I562M 0.997 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C7orf63 HGNC ENSG00000105792 tier1 - - 117 0 0.00 106 62 36.69 CALD1 0 genome.wustl.edu 37 7 134613566 134613566 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 7 134613566 134613566 G T SNP CALD1 ENST00000361388 human ensembl 74_37 +1 known missense c.133 p.A45S 1.000 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC ENSG00000122786 tier1 - - 48 0 0.00 48 4 7.69 CAMK1G 0 genome.wustl.edu 37 1 209782332 209782332 + Nonsense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 209782332 209782332 G T SNP CAMK1G ENST00000009105 human ensembl 74_37 +1 known nonsense c.643 p.G215* 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 CAMK1G HGNC ENSG00000008118 77 0 0.00 64 4 5.88 CAPRIN1 0 genome.wustl.edu 37 11 34107731 34107731 + Missense_Mutation SNP A A G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 11 34107731 34107731 A G SNP CAPRIN1 ENST00000341394 human ensembl 74_37 +1 known missense c.1087 p.M363V 1.000 NULL pfam_Caprin-1_C - no_errors CAPRIN1 HGNC ENSG00000135387 tier1 - - 39 0 0.00 14 7 33.33 CASP14 0 genome.wustl.edu 37 19 15164553 15164553 + Missense_Mutation SNP G G C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 15164553 15164553 G C SNP CASP14 ENST00000221740 human ensembl 74_37 +1 known missense c.187 p.E63Q 0.993 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP14 HGNC ENSG00000105141 tier1 - - 63 0 0.00 46 22 32.35 CASP8AP2 0 genome.wustl.edu 37 6 90573976 90573976 + RNA SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 6 90573976 90573976 C G SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors CASP8AP2 HGNC ENSG00000118412 tier1 - - 95 0 0.00 34 17 33.33 CASR 0 genome.wustl.edu 37 3 121980495 121980495 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 3 121980495 121980495 C T SNP CASR ENST00000498619 human ensembl 74_37 +1 known missense c.613 p.R205C 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 tier1 - - 29 0 0.00 14 3 17.65 CBX3P2 0 genome.wustl.edu 37 18 2652677 2652678 + RNA DEL AC AC - TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 18 2652677 2652678 AC 0 DEL CBX3P2 ENST00000579647 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors CBX3P2 HGNC ENSG00000266405 11 0 0.00 5 3 37.50 CCDC109B 0 genome.wustl.edu 37 4 110605697 110605697 + Nonsense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 4 110605697 110605697 G A SNP CCDC109B ENST00000394650 human ensembl 74_37 +1 known nonsense c.711 p.W237* 1.000 pfam_Coiled-coil-dom_prot_109_C pfam_Coiled-coil-dom_prot_109_C - no_errors CCDC109B HGNC ENSG00000005059 tier1 - - 51 0 0.00 36 4 10.00 CCL5 0 genome.wustl.edu 37 17 34199418 34199418 + Nonsense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 17 34199418 34199418 C T SNP CCL5 ENST00000293272 human ensembl 74_37 -1 known nonsense c.239 p.W80* 1.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL5 HGNC ENSG00000161570 tier1 - - 123 0 0.00 123 17 12.14 CCPG1 0 genome.wustl.edu 37 15 55648429 55648429 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 15 55648429 55648429 G T SNP CCPG1 ENST00000425574 human ensembl 74_37 -1 known missense c.1264 p.P422T 1.000 NULL NULL - no_errors CCPG1 HGNC ENSG00000260916 tier1 - - 76 0 0.00 65 4 5.80 CD55 0 genome.wustl.edu 37 1 207527382 207527382 + Missense_Mutation SNP G G C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 207527382 207527382 G C SNP CD55 ENST00000391920 human ensembl 74_37 +1 known missense c.1112 p.G371A 0.000 NULL pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CD55 HGNC ENSG00000196352 tier1 - - 67 0 0.00 43 15 25.86 CD93 0 genome.wustl.edu 37 20 23066586 23066586 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 20 23066586 23066586 G A SNP CD93 ENST00000246006 human ensembl 74_37 -1 known missense c.244 p.R82W 0.000 pirsf_CD93/CD141,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 tier1 - - 110 0 0.00 72 22 23.40 CHAMP1 0 genome.wustl.edu 37 13 115089417 115089417 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 13 115089417 115089417 G T SNP CHAMP1 ENST00000361283 human ensembl 74_37 +1 known missense c.100 p.G34C 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CHAMP1 HGNC ENSG00000198824 tier1 - - 55 0 0.00 68 4 5.56 CHEK1 0 genome.wustl.edu 37 11 125525377 125525377 + RNA SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 11 125525377 125525377 G A SNP CHEK1 ENST00000532449 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CHEK1 HGNC ENSG00000149554 tier1 - - 34 0 0.00 28 4 12.50 CHMP5 0 genome.wustl.edu 37 9 33278078 33278079 + RNA INS - - T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 9 33278078 33278079 - T INS CHMP5 ENST00000487080 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.008 - - - no_errors CHMP5 HGNC ENSG00000086065 tier1 38 0 0.00 31 2 6.06 CIZ1 0 genome.wustl.edu 37 9 130941328 130941328 + Silent SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 9 130941328 130941328 C T SNP CIZ1 ENST00000538431 human ensembl 74_37 -1 known silent c.1158 p.Q386 0.855 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC ENSG00000148337 tier1 - - 72 0 0.00 42 8 16.00 CLINT1 0 genome.wustl.edu 37 5 157218893 157218893 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 5 157218893 157218893 C T SNP CLINT1 ENST00000296951 human ensembl 74_37 -1 known missense c.1144 p.A382T 0.990 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors CLINT1 HGNC ENSG00000113282 83 0 0.00 70 4 5.41 CLSTN2 0 genome.wustl.edu 37 3 140265422 140265422 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 3 140265422 140265422 C T SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known missense c.1573 p.R525C 1.000 superfamily_ConA-like_lec_gl_sf pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 tier1 - - 72 0 0.00 48 11 18.64 CMYA5 0 genome.wustl.edu 37 5 79030185 79030185 + Nonsense_Mutation SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 5 79030185 79030185 C G SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known nonsense c.5597 p.S1866* 0.567 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 - - 58 0 0.00 47 5 9.62 CMYA5 0 genome.wustl.edu 37 5 79031154 79031154 + Missense_Mutation SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 5 79031154 79031154 C G SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.6566 p.S2189W 0.999 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 - - 44 0 0.00 48 11 18.64 CNOT8 0 genome.wustl.edu 37 5 154244791 154244791 + Nonsense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 5 154244791 154244791 G T SNP CNOT8 ENST00000285896 human ensembl 74_37 +1 known nonsense c.157 p.E53* 1.000 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors CNOT8 HGNC ENSG00000155508 tier1 - - 105 0 0.00 68 4 5.56 CNTN4-AS1 0 genome.wustl.edu 37 3 3081620 3081620 + RNA SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 3 3081620 3081620 G T SNP CNTN4-AS1 ENST00000442749 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors CNTN4-AS1 HGNC ENSG00000237990 tier1 - - 20 0 0.00 10 8 44.44 CNTNAP2 0 genome.wustl.edu 37 7 147183046 147183046 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 7 147183046 147183046 G A SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.1690 p.E564K 1.000 pfam_EG-like_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 tier1 - - 74 0 0.00 60 7 10.45 COL4A1 0 genome.wustl.edu 37 13 110866296 110866296 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 13 110866296 110866296 G T SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.211 p.P71T 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 tier1 - - 69 0 0.00 51 4 7.27 COLGALT1 0 genome.wustl.edu 37 19 17690382 17690382 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 17690382 17690382 G T SNP COLGALT1 ENST00000252599 human ensembl 74_37 +1 known missense c.1358 p.R453L 0.004 pfam_Glyco_trans_25 pfam_Glyco_trans_25 - no_errors COLGALT1 HGNC ENSG00000130309 50 0 0.00 38 2 5.00 CPEB3 0 genome.wustl.edu 37 10 93999920 93999920 + Frame_Shift_Del DEL G G - TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 10 93999920 93999920 G - DEL CPEB3 ENST00000265997 human ensembl 74_37 -1 known frame_shift_del c.188 p.P63fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB3 HGNC ENSG00000107864 tier1 35 0 0.00 32 2 5.88 CPXM1 0 genome.wustl.edu 37 20 2777869 2777869 + Silent SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 20 2777869 2777869 G T SNP CPXM1 ENST00000380605 human ensembl 74_37 -1 known silent c.801 p.L267 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM1 HGNC ENSG00000088882 tier1 - - 61 0 0.00 46 4 8.00 CRIM1 0 genome.wustl.edu 37 2 36668613 36668613 + Nonsense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 2 36668613 36668613 G T SNP CRIM1 ENST00000280527 human ensembl 74_37 +1 known nonsense c.718 p.E240* 1.000 NULL pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C - no_errors CRIM1 HGNC ENSG00000150938 tier1 - - 65 0 0.00 66 4 5.71 CRY2 0 genome.wustl.edu 37 11 45869207 45869207 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 11 45869207 45869207 C T SNP CRY2 ENST00000443527 human ensembl 74_37 +1 known missense c.229 p.L77F 1.000 pfam_DNA_photolyase_N,superfamily_DNA_photolyase_N pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N - no_errors CRY2 HGNC ENSG00000121671 tier1 - - 8 0 0.00 6 4 40.00 CSK 0 genome.wustl.edu 37 15 75090969 75090969 + Missense_Mutation SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 15 75090969 75090969 C A SNP CSK ENST00000220003 human ensembl 74_37 +1 known missense c.29 p.S10Y 0.985 superfamily_SH3_domain,pfscan_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors CSK HGNC ENSG00000103653 tier1 - - 95 0 0.00 58 9 13.43 CTNNBL1 0 genome.wustl.edu 37 20 36396439 36396439 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 20 36396439 36396439 G T SNP CTNNBL1 ENST00000405275 human ensembl 74_37 +1 known missense c.662 p.R221M 1.000 superfamily_ARM-type_fold pfam_CTNNBL1_N,superfamily_ARM-type_fold - no_errors CTNNBL1 HGNC ENSG00000132792 tier1 - - 66 0 0.00 72 5 6.49 CYP2F1 0 genome.wustl.edu 37 19 41628000 41628000 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 41628000 41628000 C T SNP CYP2F1 ENST00000331105 human ensembl 74_37 +1 known missense c.784 p.R262W 0.861 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2F1 HGNC ENSG00000197446 37 0 0.00 49 4 7.55 DCAF12L2 0 genome.wustl.edu 37 X 125298882 125298882 + Silent SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 X 125298882 125298882 C A SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known silent c.1026 p.R342 0.833 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 tier1 - - 34 0 0.00 36 8 18.18 DCDC1 0 genome.wustl.edu 37 11 30902833 30902833 + Missense_Mutation SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 11 30902833 30902833 C G SNP DCDC1 ENST00000597505 human ensembl 74_37 -1 putative missense c.5096 p.R1699P 0.659 smart_Doublecortin_dom pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 tier1 - - 66 0 0.00 62 11 15.07 DCHS2 0 genome.wustl.edu 37 4 155180876 155180876 + Missense_Mutation SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 4 155180876 155180876 C G SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.5245 p.D1749H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 59 0 0.00 56 5 8.20 DMRT1 0 genome.wustl.edu 37 9 916804 916804 + Nonsense_Mutation SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 9 916804 916804 C A SNP DMRT1 ENST00000382276 human ensembl 74_37 +1 known nonsense c.864 p.Y288* 1.000 NULL pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT1 HGNC ENSG00000137090 52 0 0.00 35 3 7.89 DNAH14 0 genome.wustl.edu 37 1 225147937 225147937 + Frame_Shift_Del DEL A A - TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 225147937 225147937 A - DEL DNAH14 ENST00000430092 human ensembl 74_37 +1 known frame_shift_del c.300 p.K102fs 0.001 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 tier1 33 0 0.00 27 2 6.90 DNAJA3 0 genome.wustl.edu 37 16 4500469 4500469 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 16 4500469 4500469 C T SNP DNAJA3 ENST00000262375 human ensembl 74_37 +1 known missense c.1310 p.T437M 0.999 NULL pfam_DnaJ_domain,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA3 HGNC ENSG00000103423 71 0 0.00 57 4 6.56 DNM3 0 genome.wustl.edu 37 1 171958093 171958093 + Missense_Mutation SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 171958093 171958093 C A SNP DNM3 ENST00000358155 human ensembl 74_37 +1 known missense c.394 p.L132I 1.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM3 HGNC ENSG00000197959 tier1 - - 52 0 0.00 58 4 6.45 DOCK10 0 genome.wustl.edu 37 2 225751206 225751206 + Silent SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 2 225751206 225751206 C T SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known silent c.459 p.E153 1.000 pfam_DOCK_C/D_N pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 tier1 - - 48 0 0.00 19 7 26.92 DSEL 0 genome.wustl.edu 37 18 65180960 65180960 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 18 65180960 65180960 G A SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.916 p.R306C 1.000 superfamily_Chondroitin_lyas pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 tier1 - - 62 0 0.00 65 20 23.53 DST 0 genome.wustl.edu 37 6 56417401 56417401 + Nonsense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 6 56417401 56417401 G A SNP DST ENST00000370754 human ensembl 74_37 -1 known nonsense c.16096 p.Q5366* 1.000 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 17 0 0.00 15 2 11.76 DUSP4 0 genome.wustl.edu 37 8 29195866 29195866 + Silent SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 8 29195866 29195866 G A SNP DUSP4 ENST00000240100 human ensembl 74_37 -1 known silent c.732 p.C244 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP4 HGNC ENSG00000120875 65 0 0.00 48 3 5.88 EGFLAM 0 genome.wustl.edu 37 5 38338853 38338853 + Silent SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 5 38338853 38338853 C T SNP EGFLAM ENST00000354891 human ensembl 74_37 +1 known silent c.261 p.S87 0.004 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 tier1 - - 59 0 0.00 34 14 29.17 EIF6 0 genome.wustl.edu 37 20 33868521 33868521 + Nonsense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 20 33868521 33868521 G A SNP EIF6 ENST00000415116 human ensembl 74_37 -1 known nonsense c.424 p.Q142* 1.000 NULL NULL - no_errors EIF6 HGNC ENSG00000242372 tier1 - - 65 0 0.00 52 8 13.33 EML1 0 genome.wustl.edu 37 14 100406345 100406345 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 14 100406345 100406345 G T SNP EML1 ENST00000334192 human ensembl 74_37 +1 known missense c.2401 p.G801W 1.000 pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 32 0 0.00 35 2 5.41 ENPEP 0 genome.wustl.edu 37 4 111434689 111434689 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 4 111434689 111434689 G T SNP ENPEP ENST00000265162 human ensembl 74_37 +1 known missense c.1427 p.G476V 0.998 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 tier1 - - 115 0 0.00 62 4 6.06 ENSG00000188242 0 genome.wustl.edu 37 5 472808 472808 + Silent SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 5 472808 472808 C T SNP ENSG00000188242 ENST00000342584 human ensembl 74_37 -1 putative silent c.243 p.R81 0.027 NULL NULL - no_errors CTD-2228K2.5 Clone_based_vega_gene ENSG00000188242 77 0 0.00 63 4 5.97 ENSG00000203849 0 genome.wustl.edu 37 1 142714766 142714766 + RNA SNP A A G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 142714766 142714766 A G SNP ENSG00000203849 ENST00000610091 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 tier1 rs4848006 - 20 0 0.00 2 5 71.43 ENSG00000222031 0 genome.wustl.edu 37 2 151900298 151900298 + Missense_Mutation SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 2 151900298 151900298 C G SNP ENSG00000222031 ENST00000409243 human ensembl 74_37 -1 putative missense c.115 p.V39L 0.048 NULL NULL - no_errors AC023469.1 Clone_based_vega_gene ENSG00000222031 tier1 - - 48 0 0.00 46 12 20.69 ENSG00000230189 0 genome.wustl.edu 37 7 65894965 65894965 + RNA SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 7 65894965 65894965 C G SNP ENSG00000230189 ENST00000442578 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GS1-124K5.2 Clone_based_vega_gene ENSG00000230189 tier1 - - 36 0 0.00 15 4 21.05 ENSG00000240040 0 genome.wustl.edu 37 2 89111019 89111019 + RNA SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 2 89111019 89111019 G T SNP ENSG00000240040 ENST00000452230 human ensembl 74_37 -1 known rna NULL NULL 0.049 - - - no_errors AC096579.13 Clone_based_vega_gene ENSG00000240040 tier1 - - 51 0 0.00 42 4 8.70 ENSG00000245482 0 genome.wustl.edu 37 12 34176818 34176818 + RNA SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 12 34176818 34176818 G A SNP ENSG00000245482 ENST00000501954 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-847H18.2 Clone_based_vega_gene ENSG00000245482 tier1 - - 78 0 0.00 47 9 16.07 ENSG00000251429 0 genome.wustl.edu 37 4 159199089 159199089 + RNA SNP G G C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 4 159199089 159199089 G C SNP ENSG00000251429 ENST00000512016 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-597D13.7 Clone_based_vega_gene ENSG00000251429 tier1 - - 45 0 0.00 34 4 10.53 ENSG00000261971 0 genome.wustl.edu 37 16 3105771 3105771 + RNA SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 16 3105771 3105771 G T SNP ENSG00000261971 ENST00000570949 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-473M20.7 Clone_based_vega_gene ENSG00000261971 tier1 - - 46 0 0.00 60 4 6.25 ENSG00000263756 0 genome.wustl.edu 37 6 32940401 32940402 + RNA DEL AG AG - TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 6 32940401 32940402 AG - DEL ENSG00000263756 ENST00000580587 human ensembl 74_37 -1 known rna NULL NULL 0.867:0.918 - - - no_errors XXbac-BPG181M17.6 Clone_based_vega_gene ENSG00000263756 tier1 91 0 0.00 72 30 29.41 ENTHD1 0 genome.wustl.edu 37 22 40139936 40139936 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 22 40139936 40139936 G T SNP ENTHD1 ENST00000325157 human ensembl 74_37 -1 known missense c.1572 p.F524L 0.000 NULL pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors ENTHD1 HGNC ENSG00000176177 tier1 - - 41 0 0.00 54 4 6.90 EPHA1-AS1 0 genome.wustl.edu 37 7 143219965 143219965 + RNA SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 7 143219965 143219965 C T SNP EPHA1-AS1 ENST00000429289 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors EPHA1-AS1 HGNC ENSG00000229153 tier1 - - 9 0 0.00 2 7 77.78 EPHA6 0 genome.wustl.edu 37 3 96962952 96962952 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 3 96962952 96962952 G T SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.1427 p.C476F 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,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,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 95 0 0.00 73 4 5.19 EYA1 0 genome.wustl.edu 37 8 72181986 72181986 + Missense_Mutation SNP T T C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 8 72181986 72181986 T C SNP EYA1 ENST00000340726 human ensembl 74_37 -1 known missense c.1039 p.R347G 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 tier1 - - 75 0 0.00 66 4 5.71 FAM189B 0 genome.wustl.edu 37 1 155217905 155217905 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 155217905 155217905 C T SNP FAM189B ENST00000361361 human ensembl 74_37 -1 known missense c.1769 p.R590H 1.000 NULL pfam_CD20-like - no_errors FAM189B HGNC ENSG00000160767 tier1 - - 75 0 0.00 60 4 6.25 FAM200A 0 genome.wustl.edu 37 7 99145817 99145817 + Missense_Mutation SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 7 99145817 99145817 C G SNP FAM200A ENST00000449309 human ensembl 74_37 -1 known missense c.214 p.A72P 1.000 NULL superfamily_RNaseH-like_dom - no_errors FAM200A HGNC ENSG00000221909 tier1 - - 46 0 0.00 37 8 17.78 FAM21B 0 genome.wustl.edu 37 10 47946902 47946902 + Missense_Mutation SNP G G C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 10 47946902 47946902 G C SNP FAM21B ENST00000358474 human ensembl 74_37 +1 known missense c.3538 p.D1180H 1.000 NULL NULL - no_errors FAM21B HGNC ENSG00000152726 tier1 - - 44 0 0.00 27 8 22.86 FAM71C 0 genome.wustl.edu 37 12 100042091 100042091 + Missense_Mutation SNP G G C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 12 100042091 100042091 G C SNP FAM71C ENST00000324341 human ensembl 74_37 +1 known missense c.139 p.E47Q 1.000 NULL pfam_DUF3699 - no_errors FAM71C HGNC ENSG00000180219 tier1 - - 50 0 0.00 51 6 10.53 FAM87A 0 genome.wustl.edu 37 8 327671 327671 + RNA SNP G G C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 8 327671 327671 G C SNP FAM87A ENST00000330148 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors FAM87A HGNC ENSG00000182366 32 0 0.00 25 5 16.67 FAM87A 0 genome.wustl.edu 37 8 327684 327684 + RNA SNP A A G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 8 327684 327684 A G SNP FAM87A ENST00000330148 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM87A HGNC ENSG00000182366 36 0 0.00 33 5 13.16 FANCA 0 genome.wustl.edu 37 16 89858425 89858425 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 16 89858425 89858425 G T SNP FANCA ENST00000389301 human ensembl 74_37 -1 known missense c.1135 p.L379M 1.000 NULL pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC ENSG00000187741 tier1 - - 47 0 0.00 40 4 9.09 FANCI 0 genome.wustl.edu 37 15 89859688 89859688 + Nonstop_Mutation SNP T T C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 15 89859688 89859688 T C SNP FANCI ENST00000310775 human ensembl 74_37 +1 known nonstop c.3985 p.*1329Q 0.984 NULL NULL - no_errors FANCI HGNC ENSG00000140525 tier1 - - 55 0 0.00 37 8 17.78 FASLG 0 genome.wustl.edu 37 1 172634774 172634774 + Nonsense_Mutation SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 172634774 172634774 C G SNP FASLG ENST00000367721 human ensembl 74_37 +1 known nonsense c.464 p.S155* 0.931 superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_FASL pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_FASL,prints_TNF,prints_TNF_C - no_errors FASLG HGNC ENSG00000117560 tier1 - - 39 0 0.00 33 6 15.00 FBN3 0 genome.wustl.edu 37 19 8161420 8161420 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 8161420 8161420 C T SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.5447 p.C1816Y 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 tier1 - - 30 0 0.00 31 4 11.43 FBXL6 0 genome.wustl.edu 37 8 145580145 145580145 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 8 145580145 145580145 C T SNP FBXL6 ENST00000331890 human ensembl 74_37 -1 known missense c.1040 p.R347Q 0.003 NULL superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL6 HGNC ENSG00000182325 tier1 - - 64 0 0.00 63 8 11.27 FBXL7 0 genome.wustl.edu 37 5 15928017 15928017 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 5 15928017 15928017 G T SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known missense c.146 p.R49L 1.000 NULL pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 60 0 0.00 34 3 8.11 FCGR2B 0 genome.wustl.edu 37 1 161642865 161642865 + Silent SNP A A G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 161642865 161642865 A G SNP FCGR2B ENST00000358671 human ensembl 74_37 +1 known silent c.492 p.T164 0.685 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCGR2B HGNC ENSG00000072694 119 0 0.00 92 6 6.12 FGF5 0 genome.wustl.edu 37 4 81188301 81188301 + Missense_Mutation SNP A A C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 4 81188301 81188301 A C SNP FGF5 ENST00000312465 human ensembl 74_37 +1 known missense c.323 p.K108T 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF5 HGNC ENSG00000138675 tier1 - - 98 0 0.00 100 9 8.26 FIGNL1 0 genome.wustl.edu 37 7 50513641 50513641 + Missense_Mutation SNP G G C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 7 50513641 50513641 G C SNP FIGNL1 ENST00000356889 human ensembl 74_37 -1 known missense c.1345 p.L449V 1.000 pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGNL1 HGNC ENSG00000132436 tier1 - - 71 0 0.00 47 7 12.96 FITM2 0 genome.wustl.edu 37 20 42935620 42935620 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 20 42935620 42935620 C T SNP FITM2 ENST00000396825 human ensembl 74_37 -1 known missense c.434 p.G145D 1.000 pfam_FIT pfam_FIT - no_errors FITM2 HGNC ENSG00000197296 tier1 - - 33 0 0.00 32 4 11.11 FLG 0 genome.wustl.edu 37 1 152280935 152280935 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 152280935 152280935 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.6427 p.G2143R 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 169 0 0.00 126 20 13.70 FLT1 0 genome.wustl.edu 37 13 28964125 28964125 + Silent SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 13 28964125 28964125 G T SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known silent c.1777 p.R593 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_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 56 0 0.00 45 3 6.25 FLT3 0 genome.wustl.edu 37 13 28602427 28602427 + Splice_Site SNP T T A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 13 28602427 28602427 T A SNP FLT3 ENST00000380982 human ensembl 74_37 -1 known splice_site c.1943-2 e16-2 1.000 - - - no_errors FLT3 HGNC ENSG00000122025 48 0 0.00 35 2 5.41 FOXJ1 0 genome.wustl.edu 37 17 74136021 74136021 + Silent SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 17 74136021 74136021 C A SNP FOXJ1 ENST00000322957 human ensembl 74_37 -1 known silent c.456 p.T152 0.800 pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXJ1 HGNC ENSG00000129654 tier1 - - 33 0 0.00 21 3 12.50 GAB3 0 genome.wustl.edu 37 X 153944371 153944371 + Silent SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 X 153944371 153944371 C T SNP GAB3 ENST00000424127 human ensembl 74_37 -1 known silent c.306 p.E102 0.998 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB3 HGNC ENSG00000160219 tier1 - - 42 0 0.00 7 19 73.08 GALNT18 0 genome.wustl.edu 37 11 11398890 11398890 + Silent SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 11 11398890 11398890 C T SNP GALNT18 ENST00000227756 human ensembl 74_37 -1 known silent c.816 p.R272 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT18 HGNC ENSG00000110328 tier1 - - 55 0 0.00 44 6 12.00 GATM 0 genome.wustl.edu 37 15 45654376 45654376 + Silent SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 15 45654376 45654376 C A SNP GATM ENST00000396659 human ensembl 74_37 -1 known silent c.1203 p.L401 1.000 NULL NULL - no_errors GATM HGNC ENSG00000171766 44 0 0.00 45 3 6.25 GDA 0 genome.wustl.edu 37 9 74828843 74828843 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 9 74828843 74828843 G T SNP GDA ENST00000238018 human ensembl 74_37 +1 known missense c.514 p.D172Y 1.000 pfam_Amidohydro_1,tigrfam_Guanine_deaminase pfam_Amidohydro_1,tigrfam_Guanine_deaminase - no_errors GDA HGNC ENSG00000119125 tier1 - - 103 0 0.00 70 4 5.41 GGA1 0 genome.wustl.edu 37 22 38020994 38020994 + Missense_Mutation SNP A A G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 22 38020994 38020994 A G SNP GGA1 ENST00000343632 human ensembl 74_37 +1 known missense c.851 p.N284S 1.000 pfam_GAT,pfscan_GAT pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA1 HGNC ENSG00000100083 tier1 - - 77 0 0.00 41 14 24.56 GLB1 0 genome.wustl.edu 37 3 33065806 33065806 + Silent SNP T T C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 3 33065806 33065806 T C SNP GLB1 ENST00000445488 human ensembl 74_37 -1 known silent c.1224 p.V408 0.973 superfamily_Glycoside_hydrolase_SF pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1 HGNC ENSG00000170266 tier1 - - 41 0 0.00 27 4 12.90 GLIS3 0 genome.wustl.edu 37 9 4118563 4118563 + Missense_Mutation SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 9 4118563 4118563 C A SNP GLIS3 ENST00000381971 human ensembl 74_37 -1 known missense c.915 p.L305F 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 tier1 - - 72 0 0.00 31 12 27.91 GNL1 0 genome.wustl.edu 37 6 30515132 30515132 + Missense_Mutation SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 6 30515132 30515132 C A SNP GNL1 ENST00000376621 human ensembl 74_37 -1 known missense c.1275 p.L425F 1.000 superfamily_P-loop_NTPase pfam_GTP_binding_domain,superfamily_P-loop_NTPase - no_errors GNL1 HGNC ENSG00000204590 tier1 - - 61 0 0.00 44 5 10.20 GOLGA2 0 genome.wustl.edu 37 9 131020104 131020104 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 9 131020104 131020104 C T SNP GOLGA2 ENST00000421699 human ensembl 74_37 -1 known missense c.2495 p.R832H 1.000 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 94 0 0.00 74 4 5.13 GPR17 0 genome.wustl.edu 37 2 128408503 128408503 + Missense_Mutation SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 2 128408503 128408503 C A SNP GPR17 ENST00000272644 human ensembl 74_37 +1 known missense c.278 p.P93Q 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors GPR17 HGNC ENSG00000144230 36 0 0.00 24 2 7.69 GPR75-ASB3 0 genome.wustl.edu 37 2 53941641 53941641 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 2 53941641 53941641 G A SNP GPR75-ASB3 ENST00000352846 human ensembl 74_37 -1 known missense c.974 p.A325V 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors GPR75-ASB3 HGNC ENSG00000115239 tier1 - - 112 0 0.00 107 6 5.31 GPX8 0 genome.wustl.edu 37 5 54460112 54460113 + RNA INS - - T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 5 54460112 54460113 - T INS GPX8 ENST00000506123 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors GPX8 HGNC ENSG00000164294 tier1 27 0 0.00 27 3 10.00 GRM3 0 genome.wustl.edu 37 7 86468286 86468286 + Missense_Mutation SNP T T C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 7 86468286 86468286 T C SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known missense c.1456 p.W486R 1.000 superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 tier1 - - 110 0 0.00 79 16 16.84 GUCA2B 0 genome.wustl.edu 37 1 42620505 42620505 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 42620505 42620505 C T SNP GUCA2B ENST00000372581 human ensembl 74_37 +1 known missense c.245 p.S82L 0.000 pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin,prints_Guanylin pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin,prints_Guanylin - no_errors GUCA2B HGNC ENSG00000044012 tier1 - - 13 0 0.00 11 4 26.67 GUCA2B 0 genome.wustl.edu 37 1 42621215 42621215 + Missense_Mutation SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 42621215 42621215 C A SNP GUCA2B ENST00000372581 human ensembl 74_37 +1 known missense c.287 p.A96D 0.238 pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin,prints_Guanylin - no_errors GUCA2B HGNC ENSG00000044012 21 0 0.00 30 4 11.76 HDAC5 0 genome.wustl.edu 37 17 42160016 42160016 + Silent SNP T T A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 17 42160016 42160016 T A SNP HDAC5 ENST00000225983 human ensembl 74_37 -1 known silent c.2547 p.V849 0.997 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC5 HGNC ENSG00000108840 tier1 - - 55 0 0.00 36 31 46.27 HIST1H1B 0 genome.wustl.edu 37 6 27835282 27835282 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 6 27835282 27835282 G T SNP HIST1H1B ENST00000331442 human ensembl 74_37 -1 known missense c.26 p.T9K 0.893 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 tier1 - - 76 0 0.00 52 5 8.77 HIST1H2AM 0 genome.wustl.edu 37 6 27860562 27860562 + Silent SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 6 27860562 27860562 C T SNP HIST1H2AM ENST00000359611 human ensembl 74_37 -1 known silent c.366 p.E122 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AM HGNC ENSG00000233224 tier1 - - 135 0 0.00 100 16 13.79 HMCN1 0 genome.wustl.edu 37 1 186099708 186099708 + Missense_Mutation SNP A A C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 186099708 186099708 A C SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.13109 p.N4370T 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 78 0 0.00 53 6 10.17 HMCN1 0 genome.wustl.edu 37 1 186113763 186113763 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 186113763 186113763 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.14194 p.P4732S 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 56 0 0.00 50 3 5.66 HNF1A 0 genome.wustl.edu 37 12 121435420 121435420 + Missense_Mutation SNP A A G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 12 121435420 121435420 A G SNP HNF1A ENST00000257555 human ensembl 74_37 +1 known missense c.1453 p.T485A 1.000 pfam_HNF1b_C pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1A HGNC ENSG00000135100 tier1 - - 26 0 0.00 30 9 23.08 HNRNPR 0 genome.wustl.edu 37 1 23670802 23670802 + RNA DEL T T - TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 23670802 23670802 T - DEL HNRNPR ENST00000490652 human ensembl 74_37 -1 known rna NULL NULL 0.979 - - - no_errors HNRNPR HGNC ENSG00000125944 tier1 60 0 0.00 59 16 21.33 HOXA5 0 genome.wustl.edu 37 7 27183145 27183145 + Missense_Mutation SNP T T C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 7 27183145 27183145 T C SNP HOXA5 ENST00000222726 human ensembl 74_37 -1 known missense c.82 p.S28G 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA5 HGNC ENSG00000106004 76 0 0.00 52 4 7.14 HRNR 0 genome.wustl.edu 37 1 152191248 152191248 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 152191248 152191248 G T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.2857 p.H953N 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 147 0 0.00 92 30 24.59 HTT 0 genome.wustl.edu 37 4 3136265 3136265 + Silent SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 4 3136265 3136265 C T SNP HTT ENST00000355072 human ensembl 74_37 +1 known silent c.2631 p.F877 0.916 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 tier1 - - 52 0 0.00 36 4 10.00 ITPKA 0 genome.wustl.edu 37 15 41793750 41793750 + Silent SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 15 41793750 41793750 G A SNP ITPKA ENST00000260386 human ensembl 74_37 +1 known silent c.579 p.G193 0.957 NULL pfam_IPK - no_errors ITPKA HGNC ENSG00000137825 tier1 - - 45 0 0.00 56 4 6.67 ITSN1 0 genome.wustl.edu 37 21 35208798 35208798 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 21 35208798 35208798 G A SNP ITSN1 ENST00000381285 human ensembl 74_37 +1 known missense c.3523 p.A1175T 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 45 0 0.00 27 4 12.90 KANSL3 0 genome.wustl.edu 37 2 97271233 97271233 + Missense_Mutation SNP T T A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 2 97271233 97271233 T A SNP KANSL3 ENST00000431828 human ensembl 74_37 -1 known missense c.1757 p.E586V 1.000 NULL NULL - no_errors KANSL3 HGNC ENSG00000114982 tier1 - - 60 0 0.00 34 5 12.82 KBTBD7 0 genome.wustl.edu 37 13 41766370 41766370 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 13 41766370 41766370 C T SNP KBTBD7 ENST00000379483 human ensembl 74_37 -1 known missense c.2024 p.R675Q 0.981 NULL pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD7 HGNC ENSG00000120696 tier1 - - 66 0 0.00 39 5 11.11 KCNK10 0 genome.wustl.edu 37 14 88729764 88729764 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 14 88729764 88729764 C T SNP KCNK10 ENST00000312350 human ensembl 74_37 -1 known missense c.184 p.G62S 0.990 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK10 HGNC ENSG00000100433 70 0 0.00 66 4 5.71 KIAA1551 0 genome.wustl.edu 37 12 32145344 32145344 + Missense_Mutation SNP T T A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 12 32145344 32145344 T A SNP KIAA1551 ENST00000312561 human ensembl 74_37 +1 known missense c.5119 p.F1707I 0.004 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 59 0 0.00 56 4 6.67 KIF26B 0 genome.wustl.edu 37 1 245772708 245772708 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 245772708 245772708 G A SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.1792 p.V598M 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 tier1 - - 82 0 0.00 71 6 7.79 KIF27 0 genome.wustl.edu 37 9 86504111 86504111 + Nonsense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 9 86504111 86504111 G A SNP KIF27 ENST00000297814 human ensembl 74_37 -1 known nonsense c.1867 p.R623* 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 tier1 - - 102 0 0.00 67 31 31.63 KRT18P55 0 genome.wustl.edu 37 17 26603096 26603096 + RNA SNP T T A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 17 26603096 26603096 T A SNP KRT18P55 ENST00000577198 human ensembl 74_37 -1 known rna NULL NULL 0.017 - - - no_errors KRT18P55 HGNC ENSG00000265480 tier1 - - 32 0 0.00 37 4 9.76 KRTAP10-11 0 genome.wustl.edu 37 21 46066427 46066427 + Missense_Mutation SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 21 46066427 46066427 C A SNP KRTAP10-11 ENST00000334670 human ensembl 74_37 +1 known missense c.52 p.Q18K 0.936 NULL NULL - no_errors KRTAP10-11 HGNC ENSG00000243489 76 0 0.00 64 4 5.80 LAMA1 0 genome.wustl.edu 37 18 7040152 7040152 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 18 7040152 7040152 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.1345 p.P449S 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 60 0 0.00 56 3 5.08 LAMA2 0 genome.wustl.edu 37 6 129649505 129649505 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 6 129649505 129649505 G A SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.4259 p.C1420Y 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 tier1 - - 72 0 0.00 48 5 9.43 LAMB1 0 genome.wustl.edu 37 7 107570034 107570034 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 7 107570034 107570034 G T SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known missense c.4568 p.A1523E 0.996 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 48 0 0.00 25 2 7.41 LEPR 0 genome.wustl.edu 37 1 66058442 66058442 + Silent SNP T T C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 66058442 66058442 T C SNP LEPR ENST00000349533 human ensembl 74_37 +1 known silent c.597 p.P199 0.985 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LEPR HGNC ENSG00000116678 tier1 - - 31 0 0.00 18 3 14.29 LHB 0 genome.wustl.edu 37 19 49519433 49519433 + Silent SNP G G C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 49519433 49519433 G C SNP LHB ENST00000221421 human ensembl 74_37 -1 known silent c.318 p.L106 0.998 pfam_Cys_knot,smart_Gonadotropin_bsu pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors LHB HGNC ENSG00000104826 tier1 - - 117 0 0.00 96 8 7.69 LINC00238 0 genome.wustl.edu 37 14 66954918 66954918 + RNA SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 14 66954918 66954918 G A SNP LINC00238 ENST00000359454 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors LINC00238 HGNC ENSG00000196553 tier1 - - 51 0 0.00 29 9 23.68 LOC100131825 0 genome.wustl.edu 37 1 159166613 159166613 + RNA DEL T T - TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 159166613 159166613 T - DEL LOC100131825 ENST00000415675 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTA-134P22.2 Clone_based_vega_gene ENSG00000225670 tier1 13 0 0.00 14 4 22.22 LOC101928147 0 genome.wustl.edu 37 21 35772939 35772939 + Silent SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 21 35772939 35772939 G A SNP LOC101928147 ENST00000410005 human ensembl 74_37 -1 putative silent c.432 p.F144 0.000 NULL NULL - no_errors AP000322.54 Clone_based_vega_gene ENSG00000222018 tier1 - - 59 0 0.00 54 5 8.47 LOC440910 0 genome.wustl.edu 37 2 132054509 132054509 + RNA SNP A A T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 2 132054509 132054509 A T SNP LOC440910 ENST00000560285 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AC131180.4 Clone_based_vega_gene ENSG00000231431 tier1 - - 67 0 0.00 70 4 5.41 LRRC37A5P 0 genome.wustl.edu 37 9 114365331 114365331 + RNA DEL T T - TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 9 114365331 114365331 T - DEL LRRC37A5P ENST00000536054 human ensembl 74_37 -1 known rna NULL NULL 0.354 - - - no_errors LRRC37A5P HGNC ENSG00000204173 tier1 38 0 0.00 34 2 5.56 LRRC37A6P 0 genome.wustl.edu 37 10 27537518 27537518 + RNA SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 10 27537518 27537518 C T SNP LRRC37A6P ENST00000284414 human ensembl 74_37 -1 known rna NULL NULL 0.835 - - - no_errors LRRC37A6P HGNC ENSG00000230445 tier1 - - 297 0 0.00 239 44 15.49 LRRC7 0 genome.wustl.edu 37 1 70225961 70225961 + Nonsense_Mutation SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 70225961 70225961 C A SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known nonsense c.74 p.S25* 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 tier1 - - 50 0 0.00 34 11 24.44 LRRC9 0 genome.wustl.edu 37 14 60483421 60483421 + Missense_Mutation SNP G G C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 14 60483421 60483421 G C SNP LRRC9 ENST00000254271 human ensembl 74_37 +1 known missense c.3230 p.R1077T 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC9 HGNC ENSG00000131951 tier1 - - 93 0 0.00 73 12 14.12 LRRN1 0 genome.wustl.edu 37 3 3886578 3886578 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 3 3886578 3886578 G A SNP LRRN1 ENST00000319331 human ensembl 74_37 +1 known missense c.253 p.A85T 0.999 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 - - 44 0 0.00 42 4 8.70 LRTM1 0 genome.wustl.edu 37 3 54958911 54958911 + Silent SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 3 54958911 54958911 C T SNP LRTM1 ENST00000273286 human ensembl 74_37 -1 known silent c.339 p.L113 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 tier1 - - 43 0 0.00 20 9 31.03 MAP1A 0 genome.wustl.edu 37 15 43819502 43819502 + Missense_Mutation SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 15 43819502 43819502 C A SNP MAP1A ENST00000399453 human ensembl 74_37 +1 known missense c.5831 p.T1944K 0.024 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 tier1 - - 58 0 0.00 34 6 14.63 MAP4 0 genome.wustl.edu 37 3 47958058 47958058 + Missense_Mutation SNP T T C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 3 47958058 47958058 T C SNP MAP4 ENST00000360240 human ensembl 74_37 -1 known missense c.1259 p.Q420R 0.005 NULL pfam_MAP_tubulin-bd_rpt - no_errors MAP4 HGNC ENSG00000047849 36 0 0.00 31 3 8.82 MCC 0 genome.wustl.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 5 112824048 112824049 - GCC INS MCC ENST00000408903 human ensembl 74_37 -1 putative in_frame_ins c.64_63 p.21in_frame_insG 0.854:0.894 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MCC HGNC ENSG00000171444 tier1 11 0 0.00 9 4 30.77 MDN1 0 genome.wustl.edu 37 6 90438848 90438848 + Silent SNP T T A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 6 90438848 90438848 T A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known silent c.5151 p.L1717 0.000 superfamily_P-loop_NTPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 34 0 0.00 20 4 16.67 MED24 0 genome.wustl.edu 37 17 38189392 38189392 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 17 38189392 38189392 C T SNP MED24 ENST00000394128 human ensembl 74_37 -1 known missense c.739 p.V247M 0.418 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC ENSG00000008838 43 0 0.00 41 4 8.89 MEI4 0 genome.wustl.edu 37 6 78471284 78471284 + Missense_Mutation SNP A A G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 6 78471284 78471284 A G SNP MEI4 ENST00000602452 human ensembl 74_37 +1 novel missense c.670 p.N224D 0.694 NULL NULL - no_errors MEI4 HGNC ENSG00000269964 tier1 - - 52 0 0.00 38 4 9.52 MEP1B 0 genome.wustl.edu 37 18 29797884 29797884 + Missense_Mutation SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 18 29797884 29797884 C G SNP MEP1B ENST00000269202 human ensembl 74_37 +1 known missense c.2047 p.R683G 0.101 NULL pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MAM_dom,pfam_MATH,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1B HGNC ENSG00000141434 tier1 - - 76 0 0.00 54 5 8.47 MGAT5 0 genome.wustl.edu 37 2 135076308 135076308 + Nonsense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 2 135076308 135076308 G T SNP MGAT5 ENST00000281923 human ensembl 74_37 +1 known nonsense c.571 p.E191* 1.000 NULL NULL - no_errors MGAT5 HGNC ENSG00000152127 36 0 0.00 38 2 5.00 MICAL2 0 genome.wustl.edu 37 11 12257748 12257748 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 11 12257748 12257748 G A SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known missense c.2020 p.D674N 0.999 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 tier1 - - 113 0 0.00 73 10 12.05 MIR3146 0 genome.wustl.edu 37 7 19745033 19745033 + RNA SNP T T C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 7 19745033 19745033 T C SNP MIR3146 ENST00000580367 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR3146 HGNC ENSG00000265932 tier1 - - 29 0 0.00 32 6 15.79 MIR515-2 0 genome.wustl.edu 37 19 54188332 54188332 + RNA SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 54188332 54188332 G A SNP MIR515-2 ENST00000384883 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors MIR515-2 HGNC ENSG00000207615 tier1 - - 77 0 0.00 59 13 18.06 MISP 0 genome.wustl.edu 37 19 757214 757214 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 757214 757214 G A SNP MISP ENST00000215582 human ensembl 74_37 +1 known missense c.268 p.E90K 0.000 NULL NULL - no_errors MISP HGNC ENSG00000099812 tier1 - - 97 0 0.00 111 11 9.02 MLLT3 0 genome.wustl.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 9 20414346 20414346 G A SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.498 p.S166 0.975 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 tier1 - - 65 0 0.00 45 5 10.00 MMP24 0 genome.wustl.edu 37 20 33862200 33862200 + Silent SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 20 33862200 33862200 C A SNP MMP24 ENST00000246186 human ensembl 74_37 +1 known silent c.1726 p.R576 0.046 pfam_Pept_M10A_metallopeptidase_C pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP24 HGNC ENSG00000125966 tier1 - - 56 0 0.00 40 12 23.08 MOCS3 0 genome.wustl.edu 37 20 49576280 49576280 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 20 49576280 49576280 G T SNP MOCS3 ENST00000244051 human ensembl 74_37 +1 known missense c.901 p.G301W 0.999 pfam_MoeZ_MoeB,superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,pfam_MoeZ_MoeB,pfam_Rhodanese-like_dom,superfamily_Molybdenum_cofac_synth_MoeB,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors MOCS3 HGNC ENSG00000124217 tier1 - - 42 0 0.00 19 6 24.00 MOV10 0 genome.wustl.edu 37 1 113235484 113235484 + Missense_Mutation SNP A A G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 113235484 113235484 A G SNP MOV10 ENST00000357443 human ensembl 74_37 +1 known missense c.1073 p.Y358C 1.000 NULL superfamily_P-loop_NTPase - no_errors MOV10 HGNC ENSG00000155363 tier1 - - 33 0 0.00 28 7 20.00 MPEG1 0 genome.wustl.edu 37 11 58980158 58980158 + Nonsense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 11 58980158 58980158 G A SNP MPEG1 ENST00000361050 human ensembl 74_37 -1 known nonsense c.181 p.R61* 0.998 NULL pfam_MACPF,smart_MACPF - no_errors MPEG1 HGNC ENSG00000197629 74 0 0.00 57 3 5.00 MUC16 0 genome.wustl.edu 37 19 9064268 9064268 + Silent SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 9064268 9064268 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.23178 p.A7726 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 30 0 0.00 38 6 13.64 MUC16 0 genome.wustl.edu 37 19 9084035 9084035 + Nonsense_Mutation SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 9084035 9084035 C A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known nonsense c.7780 p.E2594* 0.151 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 71 0 0.00 71 4 5.33 MYH10 0 genome.wustl.edu 37 17 8445446 8445446 + Nonsense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 17 8445446 8445446 G T SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known nonsense c.1554 p.C518* 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,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 tier1 - - 73 0 0.00 52 4 7.02 MYH13 0 genome.wustl.edu 37 17 10209808 10209808 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 17 10209808 10209808 C T SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.5434 p.G1812R 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 tier1 - - 88 0 0.00 67 4 5.63 MYH14 0 genome.wustl.edu 37 19 50764849 50764849 + Missense_Mutation SNP A A T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 50764849 50764849 A T SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.2542 p.I848F 1.000 superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Myosin_tail,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 MYH14 HGNC ENSG00000105357 53 0 0.00 53 4 7.02 MYH6 0 genome.wustl.edu 37 14 23855576 23855576 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 14 23855576 23855576 C T SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known missense c.4907 p.R1636H 0.884 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 50 0 0.00 35 3 7.89 MYO10 0 genome.wustl.edu 37 5 16670647 16670647 + Silent SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 5 16670647 16670647 C T SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known silent c.5871 p.L1957 0.994 pfam_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 tier1 - - 55 0 0.00 45 5 10.00 MYO16 0 genome.wustl.edu 37 13 109562480 109562480 + Missense_Mutation SNP A A C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 13 109562480 109562480 A C SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.1841 p.N614T 0.003 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 61 0 0.00 47 3 6.00 MYOD1 0 genome.wustl.edu 37 11 17741339 17741339 + Silent SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 11 17741339 17741339 C T SNP MYOD1 ENST00000250003 human ensembl 74_37 +1 known silent c.10 p.L4 1.000 smart_Basic pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYOD1 HGNC ENSG00000129152 54 0 0.00 30 2 6.25 MYOM2 0 genome.wustl.edu 37 8 2048834 2048834 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 8 2048834 2048834 G A SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.2609 p.R870H 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 49 0 0.00 27 2 6.90 MYT1 0 genome.wustl.edu 37 20 62843471 62843471 + Silent SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 20 62843471 62843471 C T SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known silent c.1497 p.S499 1.000 pfam_Znf_C2HC pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 tier1 - - 72 0 0.00 63 4 5.88 MZB1 0 genome.wustl.edu 37 5 138725440 138725440 + Missense_Mutation SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 5 138725440 138725440 C G SNP MZB1 ENST00000503481 human ensembl 74_37 -1 known missense c.106 p.D36H 0.860 NULL NULL - no_errors MZB1 HGNC ENSG00000170476 62 0 0.00 39 3 7.14 NAA50 0 genome.wustl.edu 37 3 113440608 113440608 + Silent SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 3 113440608 113440608 C T SNP NAA50 ENST00000240922 human ensembl 74_37 -1 known silent c.509 p.*170 1.000 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA50 HGNC ENSG00000121579 tier1 - - 98 0 0.00 77 12 13.48 NAALAD2 0 genome.wustl.edu 37 11 89882218 89882218 + Missense_Mutation SNP G G C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 11 89882218 89882218 G C SNP NAALAD2 ENST00000534061 human ensembl 74_37 +1 known missense c.426 p.E142D 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALAD2 HGNC ENSG00000077616 tier1 - - 224 0 0.00 162 13 7.43 NAALADL1 0 genome.wustl.edu 37 11 64825853 64825853 + Silent SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 11 64825853 64825853 G A SNP NAALADL1 ENST00000358658 human ensembl 74_37 -1 known silent c.141 p.T47 0.000 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALADL1 HGNC ENSG00000168060 tier1 - - 121 0 0.00 105 9 7.89 NADK 0 genome.wustl.edu 37 1 1687745 1687745 + Missense_Mutation SNP G G C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 1687745 1687745 G C SNP NADK ENST00000344463 human ensembl 74_37 -1 known missense c.972 p.I324M 0.978 pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ - no_errors NADK HGNC ENSG00000008130 tier1 - - 68 0 0.00 37 5 11.90 NADSYN1 0 genome.wustl.edu 37 11 71208614 71208614 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 11 71208614 71208614 G A SNP NADSYN1 ENST00000319023 human ensembl 74_37 +1 known missense c.1850 p.C617Y 1.000 pirsf_Gln-dep_NAD_synthase,tigrfam_NAD_synthase pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase - no_errors NADSYN1 HGNC ENSG00000172890 tier1 - - 78 0 0.00 63 4 5.97 NANS 0 genome.wustl.edu 37 9 100823111 100823111 + Missense_Mutation SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 9 100823111 100823111 C G SNP NANS ENST00000210444 human ensembl 74_37 +1 known missense c.180 p.F60L 1.000 pfam_Neu5Ac_N pfam_Neu5Ac_N,pfam_SAF,superfamily_AFP_Neu5c_C,smart_SAF,pfscan_AFP_Neu5c_C,prints_Antifreeze_III - no_errors NANS HGNC ENSG00000095380 46 0 0.00 28 2 6.67 NAV2 0 genome.wustl.edu 37 11 19955208 19955208 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 11 19955208 19955208 G T SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.1487 p.R496L 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 44 0 0.00 37 3 7.50 NAV2 0 genome.wustl.edu 37 11 20127143 20127143 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 11 20127143 20127143 G T SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.6888 p.K2296N 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 87 0 0.00 54 4 6.90 NCAPD2 0 genome.wustl.edu 37 12 6636988 6636988 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 12 6636988 6636988 G T SNP NCAPD2 ENST00000315579 human ensembl 74_37 +1 known missense c.2953 p.G985W 1.000 superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 tier1 - - 42 0 0.00 57 5 8.06 NDOR1 0 genome.wustl.edu 37 9 140110463 140110463 + Silent SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 9 140110463 140110463 G T SNP NDOR1 ENST00000371521 human ensembl 74_37 +1 known silent c.1548 p.R516 1.000 pfam_OxRdtase_FAD/NAD-bd pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NDOR1 HGNC ENSG00000188566 tier1 - - 132 0 0.00 47 4 7.84 NDUFV3 0 genome.wustl.edu 37 21 44317086 44317086 + Missense_Mutation SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 21 44317086 44317086 C A SNP NDUFV3 ENST00000354250 human ensembl 74_37 +1 known missense c.98 p.S33Y 0.000 NULL NULL - no_errors NDUFV3 HGNC ENSG00000160194 tier1 - - 86 0 0.00 60 5 7.69 NFASC 0 genome.wustl.edu 37 1 204987007 204987007 + RNA SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 204987007 204987007 C T SNP NFASC ENST00000495396 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors NFASC HGNC ENSG00000163531 tier1 - - 37 0 0.00 30 4 11.76 NFE2L3 0 genome.wustl.edu 37 7 26224313 26224313 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 7 26224313 26224313 C T SNP NFE2L3 ENST00000056233 human ensembl 74_37 +1 known missense c.995 p.T332I 0.000 NULL pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L3 HGNC ENSG00000050344 tier1 rs147199325 - 45 0 0.00 32 4 11.11 NIN 0 genome.wustl.edu 37 14 51192707 51192707 + Missense_Mutation SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 14 51192707 51192707 C A SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.6156 p.R2052S 0.994 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 tier1 - - 97 0 0.00 60 21 25.93 NLK 0 genome.wustl.edu 37 17 26488245 26488245 + Missense_Mutation SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 17 26488245 26488245 C A SNP NLK ENST00000407008 human ensembl 74_37 +1 known missense c.704 p.P235Q 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 NLK HGNC ENSG00000087095 74 0 0.00 54 3 5.26 NLRP2 0 genome.wustl.edu 37 19 55494605 55494605 + Silent SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 55494605 55494605 G T SNP NLRP2 ENST00000448584 human ensembl 74_37 +1 known silent c.1539 p.L513 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 47 0 0.00 34 8 19.05 NOC3L 0 genome.wustl.edu 37 10 96109877 96109877 + Nonsense_Mutation SNP G G C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 10 96109877 96109877 G C SNP NOC3L ENST00000371350 human ensembl 74_37 -1 known nonsense c.1121 p.S374* 1.000 superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 - no_errors NOC3L HGNC ENSG00000173145 tier1 - - 56 0 0.00 56 7 11.11 NOS2 0 genome.wustl.edu 37 17 26087701 26087701 + Missense_Mutation SNP G G C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 17 26087701 26087701 G C SNP NOS2 ENST00000313735 human ensembl 74_37 -1 known missense c.2958 p.I986M 0.900 pfam_OxRdtase_FAD/NAD-bd,pirsf_NOS_euk,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 tier1 - - 212 0 0.00 160 28 14.89 NPHS1 0 genome.wustl.edu 37 19 36333075 36333075 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 36333075 36333075 C T SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known missense c.2614 p.V872I 0.856 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 - - 54 0 0.00 29 11 27.50 NR6A1 0 genome.wustl.edu 37 9 127302411 127302411 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 9 127302411 127302411 G A SNP NR6A1 ENST00000487099 human ensembl 74_37 -1 known missense c.497 p.A166V 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd 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 - no_errors NR6A1 HGNC ENSG00000148200 tier1 - - 43 0 0.00 43 4 8.51 NRG1 0 genome.wustl.edu 37 8 32621461 32621461 + Silent SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 8 32621461 32621461 G A SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known silent c.1488 p.E496 0.929 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 70 0 0.00 36 4 10.00 NRM 0 genome.wustl.edu 37 6 30656474 30656474 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 6 30656474 30656474 G T SNP NRM ENST00000259953 human ensembl 74_37 -1 known missense c.753 p.H251Q 0.935 NULL pfam_NnrU - no_errors NRM HGNC ENSG00000137404 tier1 - - 62 0 0.00 39 12 23.53 OBSCN 0 genome.wustl.edu 37 1 228525810 228525810 + Missense_Mutation SNP T T C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 228525810 228525810 T C SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.16966 p.W5656R 1.000 superfamily_DH-domain,superfamily_SH3_domain pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 53 0 0.00 46 4 8.00 OPA1 0 genome.wustl.edu 37 3 193372651 193372651 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 3 193372651 193372651 G T SNP OPA1 ENST00000361510 human ensembl 74_37 +1 known missense c.2013 p.W671C 1.000 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF - no_errors OPA1 HGNC ENSG00000198836 tier1 - - 49 0 0.00 35 4 10.26 OPN5 0 genome.wustl.edu 37 6 47775894 47775894 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 6 47775894 47775894 C T SNP OPN5 ENST00000371211 human ensembl 74_37 +1 known missense c.761 p.A254V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Peropsin - no_errors OPN5 HGNC ENSG00000124818 31 0 0.00 23 2 8.00 OR10H5 0 genome.wustl.edu 37 19 15904867 15904867 + Silent SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 15904867 15904867 G A SNP OR10H5 ENST00000308940 human ensembl 74_37 +1 known silent c.9 p.G3 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H5 HGNC ENSG00000172519 61 0 0.00 69 4 5.48 OR10K1 0 genome.wustl.edu 37 1 158435698 158435698 + Missense_Mutation SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 158435698 158435698 C A SNP OR10K1 ENST00000289451 human ensembl 74_37 +1 known missense c.347 p.A116E 0.993 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 OR10K1 HGNC ENSG00000173285 tier1 - - 38 0 0.00 34 6 15.00 OR2G3 0 genome.wustl.edu 37 1 247769531 247769531 + Missense_Mutation SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 247769531 247769531 C G SNP OR2G3 ENST00000320002 human ensembl 74_37 +1 known missense c.644 p.S215C 0.016 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 OR2G3 HGNC ENSG00000177476 tier1 - - 38 0 0.00 39 5 11.36 OR2L8 0 genome.wustl.edu 37 1 248112840 248112840 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 248112840 248112840 G A SNP OR2L8 ENST00000357191 human ensembl 74_37 +1 known missense c.681 p.M227I 0.004 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L8 HGNC ENSG00000196936 tier1 - - 117 0 0.00 86 9 9.38 OR2Z1 0 genome.wustl.edu 37 19 8841727 8841727 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 8841727 8841727 G A SNP OR2Z1 ENST00000324060 human ensembl 74_37 +1 known missense c.337 p.V113I 0.005 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_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2Z1 HGNC ENSG00000181733 24 0 0.00 29 2 6.45 OR5H14 0 genome.wustl.edu 37 3 97869132 97869132 + Missense_Mutation SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 3 97869132 97869132 C A SNP OR5H14 ENST00000437310 human ensembl 74_37 +1 known missense c.903 p.F301L 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H14 HGNC ENSG00000236032 tier1 - - 59 0 0.00 35 4 10.26 OR5H2 0 genome.wustl.edu 37 3 98002652 98002652 + Silent SNP A A G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 3 98002652 98002652 A G SNP OR5H2 ENST00000355273 human ensembl 74_37 +1 known silent c.921 p.T307 0.046 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H2 HGNC ENSG00000197938 tier1 - - 24 0 0.00 17 3 15.00 OR6C68 0 genome.wustl.edu 37 12 55886973 55886973 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 12 55886973 55886973 G A SNP OR6C68 ENST00000379662 human ensembl 74_37 +1 known missense c.827 p.G276D 0.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR6C68 HGNC ENSG00000205327 tier1 - - 71 0 0.00 62 15 19.48 OR6N1 0 genome.wustl.edu 37 1 158736112 158736112 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 158736112 158736112 C T SNP OR6N1 ENST00000335094 human ensembl 74_37 -1 known missense c.361 p.D121N 1.000 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 OR6N1 HGNC ENSG00000197403 tier1 rs145448358 - 39 0 0.00 52 19 26.76 PADI3 0 genome.wustl.edu 37 1 17597382 17597382 + Silent SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 17597382 17597382 G T SNP PADI3 ENST00000375460 human ensembl 74_37 +1 known silent c.840 p.S280 0.004 pfam_PAD_C,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 38 0 0.00 28 3 9.68 PAQR5 0 genome.wustl.edu 37 15 69677148 69677148 + Silent SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 15 69677148 69677148 C T SNP PAQR5 ENST00000340965 human ensembl 74_37 +1 known silent c.312 p.F104 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR5 HGNC ENSG00000137819 tier1 - - 39 0 0.00 61 11 15.28 PARVA 0 genome.wustl.edu 37 11 12525935 12525935 + Nonsense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 11 12525935 12525935 C T SNP PARVA ENST00000334956 human ensembl 74_37 +1 known nonsense c.736 p.R246* 1.000 superfamily_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVA HGNC ENSG00000197702 90 0 0.00 71 4 5.33 PCDH15 0 genome.wustl.edu 37 10 55826626 55826626 + Missense_Mutation SNP T T A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 10 55826626 55826626 T A SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.2111 p.N704I 0.678 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 47 0 0.00 27 4 12.90 PCDH7 0 genome.wustl.edu 37 4 30723525 30723525 + Missense_Mutation SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 4 30723525 30723525 C G SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known missense c.481 p.L161V 0.987 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 tier1 - - 24 0 0.00 30 4 11.76 PCGF6 0 genome.wustl.edu 37 10 105110755 105110756 + Frame_Shift_Del DEL CA CA - TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 10 105110755 105110756 CA - DEL PCGF6 ENST00000369847 human ensembl 74_37 -1 known frame_shift_del c.69_68 p.L23fs 0.953:0.836 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF6 HGNC ENSG00000156374 tier1 25 0 0.00 12 4 25.00 PCM1 0 genome.wustl.edu 37 8 17797549 17797549 + Splice_Site SNP A A G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 8 17797549 17797549 A G SNP PCM1 ENST00000518537 human ensembl 74_37 +1 putative splice_site c.784-2 e5-2 1.000 - - - no_errors PCM1 HGNC ENSG00000078674 tier1 - - 57 0 0.00 56 4 6.67 PCP4 0 genome.wustl.edu 37 21 41300928 41300928 + Silent SNP A A G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 21 41300928 41300928 A G SNP PCP4 ENST00000328619 human ensembl 74_37 +1 known silent c.81 p.Q27 0.807 NULL NULL - no_errors PCP4 HGNC ENSG00000183036 tier1 - - 72 0 0.00 64 4 5.88 PGAM1P5 0 genome.wustl.edu 37 12 96066409 96066409 + RNA SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 12 96066409 96066409 C T SNP PGAM1P5 ENST00000552554 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PGAM1P5 HGNC ENSG00000257150 tier1 - - 66 0 0.00 46 4 7.84 PGLS 0 genome.wustl.edu 37 19 17628148 17628148 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 17628148 17628148 G T SNP PGLS ENST00000252603 human ensembl 74_37 +1 known missense c.448 p.G150C 1.000 tigrfam_6-phosphogluconolactonase_DevB tigrfam_6-phosphogluconolactonase_DevB - no_errors PGLS HGNC ENSG00000130313 tier1 - - 41 0 0.00 45 4 8.16 PHF14 0 genome.wustl.edu 37 7 11022380 11022380 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 7 11022380 11022380 C T SNP PHF14 ENST00000403050 human ensembl 74_37 +1 known missense c.494 p.S165F 0.992 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF14 HGNC ENSG00000106443 tier1 - - 57 0 0.00 58 7 10.77 PHF17 0 genome.wustl.edu 37 4 129792508 129792508 + Splice_Site SNP A A G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 4 129792508 129792508 A G SNP PHF17 ENST00000226319 human ensembl 74_37 +1 known splice_site c.1622-2 e10-2 0.965 - - - no_errors PHF17 HGNC ENSG00000077684 45 0 0.00 18 3 14.29 PI4KAP2 0 genome.wustl.edu 37 22 21834224 21834224 + RNA SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 22 21834224 21834224 C A SNP PI4KAP2 ENST00000450651 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PI4KAP2 HGNC ENSG00000183506 tier1 - - 109 0 0.00 85 27 24.11 PKHD1L1 0 genome.wustl.edu 37 8 110456047 110456047 + Missense_Mutation SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 8 110456047 110456047 C A SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.4707 p.S1569R 0.985 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 99 0 0.00 72 10 12.20 PKP3 0 genome.wustl.edu 37 11 404040 404040 + Frame_Shift_Del DEL C C - TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 11 404040 404040 C - DEL PKP3 ENST00000331563 human ensembl 74_37 +1 known frame_shift_del c.2175 p.N726fs 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP3 HGNC ENSG00000184363 tier1 63 0 0.00 18 2 10.00 PODN 0 genome.wustl.edu 37 1 53544114 53544114 + Missense_Mutation SNP T T A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 53544114 53544114 T A SNP PODN ENST00000312553 human ensembl 74_37 +1 known missense c.1076 p.L359Q 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors PODN HGNC ENSG00000174348 tier1 - - 61 0 0.00 61 7 10.29 PPM1A 0 genome.wustl.edu 37 14 60712739 60712739 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 14 60712739 60712739 G A SNP PPM1A ENST00000325642 human ensembl 74_37 +1 known missense c.174 p.M58I 0.001 NULL pfam_PP2C-like_dom,pfam_PP2C_C,superfamily_PP2C-like_dom,superfamily_PP2C_C,smart_PP2C-like_dom - no_errors PPM1A HGNC ENSG00000100614 tier1 - - 50 0 0.00 48 8 14.29 PRDM16 0 genome.wustl.edu 37 1 3342259 3342259 + Silent SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 3342259 3342259 G A SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known silent c.3054 p.G1018 0.994 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 tier1 - - 71 0 0.00 52 4 7.14 PRKCE 0 genome.wustl.edu 37 2 46228632 46228632 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 2 46228632 46228632 G T SNP PRKCE ENST00000306156 human ensembl 74_37 +1 known missense c.913 p.D305Y 1.000 pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCE HGNC ENSG00000171132 67 0 0.00 83 5 5.68 PROP1 0 genome.wustl.edu 37 5 177420005 177420005 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 5 177420005 177420005 C T SNP PROP1 ENST00000308304 human ensembl 74_37 -1 known missense c.386 p.R129H 0.995 superfamily_Homeodomain-like,smart_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors PROP1 HGNC ENSG00000175325 tier1 - - 48 0 0.00 36 4 10.00 PRPF8 0 genome.wustl.edu 37 17 1554764 1554764 + Missense_Mutation SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 17 1554764 1554764 C A SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known missense c.6594 p.K2198N 1.000 pfam_JAB_MPN_dom,smart_JAB_MPN_dom 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 - - 60 0 0.00 47 11 18.97 PSMC1 0 genome.wustl.edu 37 14 90725515 90725515 + Missense_Mutation SNP G G C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 14 90725515 90725515 G C SNP PSMC1 ENST00000261303 human ensembl 74_37 +1 known missense c.15 p.Q5H 1.000 NULL pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DUF815,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC1 HGNC ENSG00000100764 tier1 - - 60 0 0.00 65 5 7.14 PSME4 0 genome.wustl.edu 37 2 54152802 54152802 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 2 54152802 54152802 G T SNP PSME4 ENST00000404125 human ensembl 74_37 -1 known missense c.1683 p.S561R 1.000 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 tier1 - - 74 0 0.00 61 4 6.15 PTGFRN 0 genome.wustl.edu 37 1 117487302 117487302 + Silent SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 117487302 117487302 G A SNP PTGFRN ENST00000393203 human ensembl 74_37 +1 known silent c.420 p.V140 1.000 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PTGFRN HGNC ENSG00000134247 82 0 0.00 65 4 5.80 PTH1R 0 genome.wustl.edu 37 3 46939887 46939887 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 3 46939887 46939887 G A SNP PTH1R ENST00000313049 human ensembl 74_37 +1 known missense c.563 p.G188D 0.995 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_parathyroid_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt - no_errors PTH1R HGNC ENSG00000160801 tier1 - - 76 0 0.00 45 4 8.16 RADIL 0 genome.wustl.edu 37 7 4874346 4874346 + Silent SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 7 4874346 4874346 G T SNP RADIL ENST00000399583 human ensembl 74_37 -1 known silent c.1308 p.P436 0.028 NULL pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 101 0 0.00 73 5 6.33 RALGAPB 0 genome.wustl.edu 37 20 37146211 37146211 + Nonsense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 20 37146211 37146211 C T SNP RALGAPB ENST00000262879 human ensembl 74_37 +1 known nonsense c.1114 p.Q372* 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 tier1 - - 82 0 0.00 55 4 6.78 RALGPS2 0 genome.wustl.edu 37 1 178855196 178855196 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 178855196 178855196 C T SNP RALGPS2 ENST00000367635 human ensembl 74_37 +1 known missense c.1133 p.P378L 1.000 NULL pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS2 HGNC ENSG00000116191 tier1 - - 62 0 0.00 46 18 28.12 RANGAP1 0 genome.wustl.edu 37 22 41650402 41650402 + Silent SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 22 41650402 41650402 C T SNP RANGAP1 ENST00000356244 human ensembl 74_37 -1 known silent c.1170 p.E390 0.781 NULL pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RANGAP1 HGNC ENSG00000100401 62 0 0.00 47 3 6.00 RASGRP1 0 genome.wustl.edu 37 15 38800196 38800196 + Missense_Mutation SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 15 38800196 38800196 C G SNP RASGRP1 ENST00000310803 human ensembl 74_37 -1 known missense c.973 p.G325R 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP1 HGNC ENSG00000172575 45 0 0.00 30 3 9.09 RBM42 0 genome.wustl.edu 37 19 36123901 36123901 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 36123901 36123901 C T SNP RBM42 ENST00000262633 human ensembl 74_37 +1 known missense c.506 p.A169V 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM42 HGNC ENSG00000126254 74 0 0.00 66 4 5.71 RERE 0 genome.wustl.edu 37 1 8555218 8555218 + Missense_Mutation SNP T T A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 8555218 8555218 T A SNP RERE ENST00000337907 human ensembl 74_37 -1 known missense c.1009 p.M337L 1.000 pfam_ELM2_dom,pfscan_ELM2_dom pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 tier1 - - 40 0 0.00 34 7 17.07 REV1 0 genome.wustl.edu 37 2 100019466 100019466 + Missense_Mutation SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 2 100019466 100019466 C G SNP REV1 ENST00000258428 human ensembl 74_37 -1 known missense c.3270 p.L1090F 1.000 pirsf_REV1 pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC ENSG00000135945 tier1 - - 43 0 0.00 36 5 12.20 RFX4 0 genome.wustl.edu 37 12 107103153 107103153 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 12 107103153 107103153 G T SNP RFX4 ENST00000357881 human ensembl 74_37 +1 known missense c.906 p.W302C 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX4 HGNC ENSG00000111783 tier1 - - 84 0 0.00 74 4 5.13 RGS18 0 genome.wustl.edu 37 1 192129548 192129548 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 192129548 192129548 G A SNP RGS18 ENST00000367460 human ensembl 74_37 +1 known missense c.262 p.D88N 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS18 HGNC ENSG00000150681 tier1 - - 139 0 0.00 101 14 12.17 RPH3A 0 genome.wustl.edu 37 12 113266120 113266120 + RNA SNP T T A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 12 113266120 113266120 T A SNP RPH3A ENST00000552679 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RPH3A HGNC ENSG00000089169 tier1 - - 76 0 0.00 60 4 6.25 RRS1 0 genome.wustl.edu 37 8 67341947 67341947 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 8 67341947 67341947 C T SNP RRS1 ENST00000320270 human ensembl 74_37 +1 known missense c.581 p.A194V 1.000 NULL pfam_Ribosom_reg - no_errors RRS1 HGNC ENSG00000179041 tier1 - - 59 0 0.00 39 5 11.36 RYR1 0 genome.wustl.edu 37 19 39075637 39075637 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 39075637 39075637 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.14701 p.E4901K 1.000 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 72 0 0.00 90 9 9.09 SAP18 0 genome.wustl.edu 37 13 21721403 21721403 + Missense_Mutation SNP G G C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 13 21721403 21721403 G C SNP SAP18 ENST00000607003 human ensembl 74_37 +1 putative missense c.384 p.Q128H 0.997 pfam_SAP18,pirsf_Hist_deAcase_cplx_SAP18 pfam_SAP18,pirsf_Hist_deAcase_cplx_SAP18 - no_errors SAP18 HGNC ENSG00000150459 tier1 - - 59 0 0.00 31 12 27.91 SCN1A 0 genome.wustl.edu 37 2 166897845 166897845 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 2 166897845 166897845 C T SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.2311 p.D771N 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 tier1 - - 80 0 0.00 78 13 14.29 SCN7A 0 genome.wustl.edu 37 2 167288952 167288952 + Missense_Mutation SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 2 167288952 167288952 C A SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known missense c.2468 p.S823I 0.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 tier1 - - 67 0 0.00 62 4 6.06 SEC11C 0 genome.wustl.edu 37 18 56819910 56819910 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 18 56819910 56819910 C T SNP SEC11C ENST00000587834 human ensembl 74_37 +1 known missense c.340 p.H114Y 1.000 pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,tigrfam_Peptidase_S26B pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Peptidase_S26B,tigrfam_Peptidase_S26B - no_errors SEC11C HGNC ENSG00000166562 tier1 - - 78 0 0.00 71 5 6.58 SF3B3 0 genome.wustl.edu 37 16 70599428 70599428 + Splice_Site SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 16 70599428 70599428 G T SNP SF3B3 ENST00000302516 human ensembl 74_37 +1 known splice_site c.2826+1 e19+1 1.000 - - - no_errors SF3B3 HGNC ENSG00000189091 tier1 - - 76 0 0.00 65 4 5.80 SLC12A7 0 genome.wustl.edu 37 5 1079589 1079589 + Silent SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 5 1079589 1079589 C G SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known silent c.1320 p.R440 0.734 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 tier1 - - 42 0 0.00 39 5 11.36 SLC13A1 0 genome.wustl.edu 37 7 122774551 122774551 + Missense_Mutation SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 7 122774551 122774551 C G SNP SLC13A1 ENST00000194130 human ensembl 74_37 -1 known missense c.845 p.G282A 1.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC ENSG00000081800 tier1 - - 104 0 0.00 85 23 21.30 SLC16A9 0 genome.wustl.edu 37 10 61413642 61413642 + Missense_Mutation SNP A A G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 10 61413642 61413642 A G SNP SLC16A9 ENST00000395347 human ensembl 74_37 -1 known missense c.1142 p.I381T 0.008 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A9 HGNC ENSG00000165449 tier1 - - 80 0 0.00 42 6 12.50 SLC18A2 0 genome.wustl.edu 37 10 119013947 119013947 + Missense_Mutation SNP T T A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 10 119013947 119013947 T A SNP SLC18A2 ENST00000298472 human ensembl 74_37 +1 known missense c.639 p.D213E 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A2 HGNC ENSG00000165646 tier1 - - 29 0 0.00 27 8 22.86 SLC25A44 0 genome.wustl.edu 37 1 156180163 156180163 + Missense_Mutation SNP T T C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 156180163 156180163 T C SNP SLC25A44 ENST00000359511 human ensembl 74_37 +1 known missense c.886 p.Y296H 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A44 HGNC ENSG00000160785 tier1 - - 80 0 0.00 80 6 6.98 SLCO1B3 0 genome.wustl.edu 37 12 21051370 21051370 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 12 21051370 21051370 G T SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.1683 p.K561N 0.975 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 tier1 - - 157 0 0.00 103 10 8.85 SOCS4 0 genome.wustl.edu 37 14 55494135 55494135 + RNA SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 14 55494135 55494135 C T SNP SOCS4 ENST00000553735 human ensembl 74_37 +1 putative rna NULL NULL 0.983 - - - no_errors SOCS4 HGNC ENSG00000180008 tier1 - - 60 0 0.00 57 5 8.06 SOGA1 0 genome.wustl.edu 37 20 35422656 35422656 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 20 35422656 35422656 C T SNP SOGA1 ENST00000237536 human ensembl 74_37 -1 known missense c.3829 p.E1277K 0.994 NULL pfam_SOGA - no_errors SOGA1 HGNC ENSG00000149639 tier1 - - 50 0 0.00 65 4 5.80 SORBS1 0 genome.wustl.edu 37 10 97170530 97170530 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 10 97170530 97170530 G T SNP SORBS1 ENST00000607232 human ensembl 74_37 -1 known missense c.350 p.S117Y 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 tier1 - - 75 0 0.00 65 4 5.80 SOS1 0 genome.wustl.edu 37 2 39283972 39283972 + Silent SNP A A T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 2 39283972 39283972 A T SNP SOS1 ENST00000402219 human ensembl 74_37 -1 known silent c.381 p.S127 1.000 pfam_Histone_core_D,superfamily_Histone-fold pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 tier1 - - 70 0 0.00 48 4 7.69 SP140L 0 genome.wustl.edu 37 2 231267563 231267563 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 2 231267563 231267563 G T SNP SP140L ENST00000415673 human ensembl 74_37 +1 known missense c.1695 p.K565N 0.932 superfamily_Bromodomain,smart_Bromodomain pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140L HGNC ENSG00000185404 126 0 0.00 76 4 5.00 SPANXC 0 genome.wustl.edu 37 X 140335751 140335751 + Missense_Mutation SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 X 140335751 140335751 C G SNP SPANXC ENST00000358993 human ensembl 74_37 -1 known missense c.193 p.E65Q 0.020 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXC HGNC ENSG00000198573 tier1 - - 247 0 0.00 297 34 10.27 SPATA32 0 genome.wustl.edu 37 17 43332672 43332672 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 17 43332672 43332672 C T SNP SPATA32 ENST00000331780 human ensembl 74_37 -1 known missense c.877 p.A293T 0.000 NULL NULL - no_errors SPATA32 HGNC ENSG00000184361 42 0 0.00 28 2 6.67 SPATA6 0 genome.wustl.edu 37 1 48878823 48878823 + Missense_Mutation SNP T T C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 48878823 48878823 T C SNP SPATA6 ENST00000371847 human ensembl 74_37 -1 known missense c.239 p.Y80C 1.000 NULL NULL - no_errors SPATA6 HGNC ENSG00000132122 tier1 - - 125 0 0.00 109 7 6.03 SSR1 0 genome.wustl.edu 37 6 7299004 7299004 + Missense_Mutation SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 6 7299004 7299004 C A SNP SSR1 ENST00000244763 human ensembl 74_37 -1 known missense c.596 p.R199I 1.000 pfam_TRAP_alpha pfam_TRAP_alpha - no_errors SSR1 HGNC ENSG00000124783 50 0 0.00 38 2 5.00 STK31 0 genome.wustl.edu 37 7 23768795 23768795 + Missense_Mutation SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 7 23768795 23768795 C G SNP STK31 ENST00000355870 human ensembl 74_37 +1 known missense c.410 p.S137C 1.000 pfam_Tudor,pfscan_Tudor pfam_Tudor,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_dom - no_errors STK31 HGNC ENSG00000196335 tier1 - - 124 0 0.00 103 6 5.50 STON1-GTF2A1L 0 genome.wustl.edu 37 2 48848395 48848395 + Silent SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 2 48848395 48848395 G A SNP STON1-GTF2A1L ENST00000309827 human ensembl 74_37 +1 known silent c.2325 p.P775 0.985 pfam_TFIIA_asu/bsu pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 tier1 - - 41 0 0.00 43 4 8.51 STXBP5L 0 genome.wustl.edu 37 3 120760584 120760584 + Nonsense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 3 120760584 120760584 G T SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known nonsense c.325 p.E109* 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 tier1 - - 57 0 0.00 61 4 6.15 SVEP1 0 genome.wustl.edu 37 9 113170469 113170469 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 9 113170469 113170469 C T SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.7411 p.E2471K 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 23 0 0.00 32 3 8.57 TAP1 0 genome.wustl.edu 37 6 32818769 32818769 + Silent SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 6 32818769 32818769 G T SNP TAP1 ENST00000354258 human ensembl 74_37 -1 known silent c.1182 p.T394 0.026 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP1 HGNC ENSG00000168394 72 0 0.00 62 4 6.06 TBC1D32 0 genome.wustl.edu 37 6 121655463 121655463 + Missense_Mutation SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 6 121655463 121655463 C A SNP TBC1D32 ENST00000464622 human ensembl 74_37 -1 known missense c.114 p.E38D 1.000 NULL NULL - no_errors TBC1D32 HGNC ENSG00000146350 tier1 - - 69 0 0.00 43 5 10.42 TGFBR2 0 genome.wustl.edu 37 3 30691872 30691872 + Frame_Shift_Del DEL A A - TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 3 30691872 30691872 A - DEL TGFBR2 ENST00000359013 human ensembl 74_37 +1 known frame_shift_del c.449 p.K153fs 1.000 pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,prints_TGFB_receptor pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 tier1 49 0 0.00 33 3 8.33 TLCD1 0 genome.wustl.edu 37 17 27051820 27051820 + Missense_Mutation SNP A A T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 17 27051820 27051820 A T SNP TLCD1 ENST00000292090 human ensembl 74_37 -1 known missense c.452 p.L151H 1.000 pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors TLCD1 HGNC ENSG00000160606 tier1 - - 59 0 0.00 29 12 29.27 TMEM248 0 genome.wustl.edu 37 7 66410195 66410195 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 7 66410195 66410195 G A SNP TMEM248 ENST00000341567 human ensembl 74_37 +1 known missense c.392 p.R131H 1.000 NULL NULL - no_errors TMEM248 HGNC ENSG00000106609 tier1 - - 47 0 0.00 40 4 9.09 TMEM30A 0 genome.wustl.edu 37 6 75965914 75965914 + Silent SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 6 75965914 75965914 G A SNP TMEM30A ENST00000230461 human ensembl 74_37 -1 known silent c.990 p.I330 1.000 pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk - no_errors TMEM30A HGNC ENSG00000112697 44 0 0.00 32 2 5.88 TNC 0 genome.wustl.edu 37 9 117792627 117792627 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 9 117792627 117792627 G A SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.5978 p.T1993M 0.997 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 tier1 - - 42 0 0.00 30 4 11.76 TNFRSF25 0 genome.wustl.edu 37 1 6521693 6521693 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 6521693 6521693 C T SNP TNFRSF25 ENST00000377782 human ensembl 74_37 -1 known missense c.1082 p.R361H 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_25,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF25 HGNC ENSG00000215788 tier1 - - 23 0 0.00 17 6 26.09 TNFRSF8 0 genome.wustl.edu 37 1 12172066 12172066 + Missense_Mutation SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 12172066 12172066 C G SNP TNFRSF8 ENST00000263932 human ensembl 74_37 +1 known missense c.788 p.S263C 0.022 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8 - no_errors TNFRSF8 HGNC ENSG00000120949 42 0 0.00 37 4 9.76 TOP1 0 genome.wustl.edu 37 20 39709861 39709861 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 20 39709861 39709861 G T SNP TOP1 ENST00000361337 human ensembl 74_37 +1 known missense c.488 p.R163I 1.000 NULL pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1 HGNC ENSG00000198900 tier1 - - 52 0 0.00 67 4 5.63 TP53 0 genome.wustl.edu 37 17 7574000 7574000 + Nonsense_Mutation SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 17 7574000 7574000 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.1027 p.E343* 0.042 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,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 - - 29 0 0.00 20 18 47.37 TRABD2A 0 genome.wustl.edu 37 2 85051238 85051238 + Silent SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 2 85051238 85051238 G A SNP TRABD2A ENST00000409520 human ensembl 74_37 -1 known silent c.1173 p.A391 0.011 NULL NULL - no_errors TRABD2A HGNC ENSG00000186854 tier1 - - 70 0 0.00 53 25 32.05 TRIM10 0 genome.wustl.edu 37 6 30126364 30126364 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 6 30126364 30126364 C T SNP TRIM10 ENST00000449742 human ensembl 74_37 -1 known missense c.568 p.A190T 0.216 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM10 HGNC ENSG00000204613 tier1 - - 30 0 0.00 27 4 12.90 TRIM27 0 genome.wustl.edu 37 6 28876863 28876863 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 6 28876863 28876863 G T SNP TRIM27 ENST00000377199 human ensembl 74_37 -1 known missense c.773 p.A258D 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM27 HGNC ENSG00000204713 tier1 - - 41 0 0.00 30 4 11.76 TRIM38 0 genome.wustl.edu 37 6 25983831 25983831 + Silent SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 6 25983831 25983831 G T SNP TRIM38 ENST00000349458 human ensembl 74_37 +1 known silent c.1314 p.P438 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM38 HGNC ENSG00000112343 55 0 0.00 44 3 6.38 TRIM4 0 genome.wustl.edu 37 7 99489970 99489970 + Missense_Mutation SNP T T A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 7 99489970 99489970 T A SNP TRIM4 ENST00000355947 human ensembl 74_37 -1 known missense c.1319 p.E440V 0.022 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM4 HGNC ENSG00000146833 tier1 - - 44 0 0.00 20 8 28.57 TRIM64B 0 genome.wustl.edu 37 11 89604018 89604018 + Missense_Mutation SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 11 89604018 89604018 C G SNP TRIM64B ENST00000329862 human ensembl 74_37 -1 known missense c.1121 p.R374T 0.002 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM64B HGNC ENSG00000189253 tier1 - - 169 0 0.00 125 15 10.71 TRIM64C 0 genome.wustl.edu 37 11 49076920 49076920 + Silent SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 11 49076920 49076920 G A SNP TRIM64C ENST00000530230 human ensembl 74_37 -1 known silent c.792 p.N264 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM64C HGNC ENSG00000214891 tier1 - - 251 0 0.00 209 49 18.99 TSC22D4 0 genome.wustl.edu 37 7 100075404 100075404 + Silent SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 7 100075404 100075404 G T SNP TSC22D4 ENST00000300181 human ensembl 74_37 -1 known silent c.258 p.R86 0.841 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D4 HGNC ENSG00000166925 79 0 0.00 61 4 6.15 UBE4B 0 genome.wustl.edu 37 1 10207055 10207055 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 10207055 10207055 G A SNP UBE4B ENST00000343090 human ensembl 74_37 +1 known missense c.2498 p.G833D 1.000 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 48 0 0.00 37 2 5.13 UBN1 0 genome.wustl.edu 37 16 4921228 4921228 + Silent SNP T T A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 16 4921228 4921228 T A SNP UBN1 ENST00000262376 human ensembl 74_37 +1 known silent c.1632 p.A544 0.009 NULL NULL - no_errors UBN1 HGNC ENSG00000118900 tier1 - - 71 0 0.00 76 9 10.59 UBN1 0 genome.wustl.edu 37 16 4924401 4924401 + Missense_Mutation SNP G G C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 16 4924401 4924401 G C SNP UBN1 ENST00000262376 human ensembl 74_37 +1 known missense c.1990 p.D664H 0.994 NULL NULL - no_errors UBN1 HGNC ENSG00000118900 tier1 - - 81 0 0.00 51 5 8.93 UGCG 0 genome.wustl.edu 37 9 114695254 114695254 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 9 114695254 114695254 G A SNP UGCG ENST00000374279 human ensembl 74_37 +1 known missense c.1162 p.A388T 1.000 NULL pfam_Glyco_trans_2 - no_errors UGCG HGNC ENSG00000148154 tier1 - - 79 0 0.00 69 4 5.48 UROC1 0 genome.wustl.edu 37 3 126224599 126224599 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 3 126224599 126224599 C T SNP UROC1 ENST00000290868 human ensembl 74_37 -1 known missense c.758 p.S253N 1.000 pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 tier1 - - 115 0 0.00 94 9 8.74 USP34 0 genome.wustl.edu 37 2 61577455 61577455 + Missense_Mutation SNP A A T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 2 61577455 61577455 A T SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.1447 p.S483T 0.999 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 73 0 0.00 62 4 6.06 VCAM1 0 genome.wustl.edu 37 1 101186144 101186144 + Missense_Mutation SNP G G C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 101186144 101186144 G C SNP VCAM1 ENST00000294728 human ensembl 74_37 +1 known missense c.177 p.W59C 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VCAM-1,prints_ICAM_VCAM_N - no_errors VCAM1 HGNC ENSG00000162692 tier1 - - 51 0 0.00 35 4 10.26 VCP 0 genome.wustl.edu 37 9 35060315 35060315 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 9 35060315 35060315 C T SNP VCP ENST00000358901 human ensembl 74_37 -1 known missense c.1690 p.D564N 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 - no_errors VCP HGNC ENSG00000165280 47 0 0.00 33 2 5.71 VDAC1 0 genome.wustl.edu 37 5 133316708 133316709 + RNA DEL TT TT - TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 5 133316708 133316709 TT - DEL VDAC1 ENST00000492324 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors VDAC1 HGNC ENSG00000213585 tier1 22 0 0.00 15 2 11.76 VPS4A 0 genome.wustl.edu 37 16 69352763 69352763 + Silent SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 16 69352763 69352763 C T SNP VPS4A ENST00000254950 human ensembl 74_37 +1 known silent c.381 p.N127 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase - no_errors VPS4A HGNC ENSG00000132612 tier1 - - 62 0 0.00 47 12 20.34 VPS4B 0 genome.wustl.edu 37 18 61070965 61070965 + Silent SNP A A G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 18 61070965 61070965 A G SNP VPS4B ENST00000238497 human ensembl 74_37 -1 known silent c.459 p.P153 0.642 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase - no_errors VPS4B HGNC ENSG00000119541 tier1 - - 97 0 0.00 70 4 5.41 WDR33 0 genome.wustl.edu 37 2 128477915 128477915 + Missense_Mutation SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 2 128477915 128477915 C G SNP WDR33 ENST00000322313 human ensembl 74_37 -1 known missense c.1684 p.E562Q 1.000 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 26 0 0.00 24 4 14.29 WNK1 0 genome.wustl.edu 37 12 922899 922899 + Missense_Mutation SNP A A G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 12 922899 922899 A G SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known missense c.851 p.Y284C 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_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 45 0 0.00 45 3 6.25 XRCC5 0 genome.wustl.edu 37 2 217012834 217012834 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 2 217012834 217012834 G T SNP XRCC5 ENST00000392132 human ensembl 74_37 +1 known missense c.1505 p.R502L 0.995 pfam_Ku_C,superfamily_SPOC_like_C_dom pfam_Ku_N,pfam_Ku_PK_bind,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,superfamily_SPOC_like_C_dom,superfamily_Ku_PK_bind,smart_VWF_A,smart_Ku70/Ku80_beta-barrel_dom - no_errors XRCC5 HGNC ENSG00000079246 tier1 - - 69 0 0.00 58 4 6.45 YEATS2 0 genome.wustl.edu 37 3 183439839 183439839 + Missense_Mutation SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 3 183439839 183439839 C G SNP YEATS2 ENST00000305135 human ensembl 74_37 +1 known missense c.452 p.S151C 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 tier1 - - 52 0 0.00 61 13 17.33 ZEB1 0 genome.wustl.edu 37 10 31809133 31809133 + Missense_Mutation SNP G G C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 10 31809133 31809133 G C SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known missense c.873 p.K291N 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 53 0 0.00 36 3 7.69 ZFHX4 0 genome.wustl.edu 37 8 77765301 77765301 + Silent SNP T T A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 8 77765301 77765301 T A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.6144 p.P2048 0.617 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 14 0 0.00 7 4 26.67 ZFYVE26 0 genome.wustl.edu 37 14 68228958 68228958 + Nonsense_Mutation SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 14 68228958 68228958 C A SNP ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known nonsense c.6331 p.E2111* 0.996 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 50 0 0.00 30 2 6.25 ZIK1 0 genome.wustl.edu 37 19 58099931 58099931 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 58099931 58099931 G A SNP ZIK1 ENST00000597850 human ensembl 74_37 +1 known missense c.97 p.A33T 0.985 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZIK1 HGNC ENSG00000171649 tier1 - - 107 0 0.00 66 30 31.25 ZNF189 0 genome.wustl.edu 37 9 104170480 104170480 + Nonsense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 9 104170480 104170480 G T SNP ZNF189 ENST00000339664 human ensembl 74_37 +1 known nonsense c.430 p.E144* 1.000 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 ZNF189 HGNC ENSG00000136870 tier1 - - 51 0 0.00 56 4 6.67 ZNF200 0 genome.wustl.edu 37 16 3274107 3274107 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 16 3274107 3274107 G A SNP ZNF200 ENST00000414144 human ensembl 74_37 -1 known missense c.973 p.R325C 0.992 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF200 HGNC ENSG00000010539 30 0 0.00 37 3 7.50 ZNF320 0 genome.wustl.edu 37 19 53384421 53384421 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 53384421 53384421 G T SNP ZNF320 ENST00000391781 human ensembl 74_37 -1 known missense c.958 p.R320S 0.515 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 ZNF320 HGNC ENSG00000182986 64 0 0.00 50 3 5.66 ZNF396 0 genome.wustl.edu 37 18 32953438 32953438 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 18 32953438 32953438 G T SNP ZNF396 ENST00000589332 human ensembl 74_37 -1 known missense c.544 p.Q182K 0.002 NULL 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 ZNF396 HGNC ENSG00000186496 tier1 - - 70 0 0.00 45 4 8.16 ZNF506 0 genome.wustl.edu 37 19 19906097 19906097 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 19906097 19906097 C T SNP ZNF506 ENST00000443905 human ensembl 74_37 -1 known missense c.599 p.R200H 0.984 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 ZNF506 HGNC ENSG00000081665 tier1 - - 54 0 0.00 59 4 6.35 ZNF518B 0 genome.wustl.edu 37 4 10445192 10445192 + Missense_Mutation SNP T T A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 4 10445192 10445192 T A SNP ZNF518B ENST00000326756 human ensembl 74_37 -1 known missense c.2761 p.R921W 0.992 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 tier1 - - 31 0 0.00 23 13 36.11 ZNF556 0 genome.wustl.edu 37 19 2878078 2878078 + Silent SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 2878078 2878078 G A SNP ZNF556 ENST00000307635 human ensembl 74_37 +1 known silent c.1122 p.T374 0.007 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 ZNF556 HGNC ENSG00000172000 tier1 - - 67 0 0.00 58 6 9.38 ZNF683 0 genome.wustl.edu 37 1 26688515 26688515 + Splice_Site SNP T T C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 26688515 26688515 T C SNP ZNF683 ENST00000403843 human ensembl 74_37 -1 known splice_site c.1204-2 e6-2 1.000 - - - no_errors ZNF683 HGNC ENSG00000176083 tier1 - - 44 0 0.00 33 4 10.81 ZNF737 0 genome.wustl.edu 37 19 20728406 20728406 + Missense_Mutation SNP G G C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 20728406 20728406 G C SNP ZNF737 ENST00000427401 human ensembl 74_37 -1 known missense c.603 p.F201L 0.588 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 ZNF737 HGNC ENSG00000237440 tier1 - - 88 0 0.00 61 7 10.29 ZNF791 0 genome.wustl.edu 37 19 12738587 12738587 + Nonsense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 12738587 12738587 G T SNP ZNF791 ENST00000343325 human ensembl 74_37 +1 known nonsense c.244 p.E82* 0.987 pfscan_Krueppel-associated_box 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 ZNF791 HGNC ENSG00000173875 tier1 - - 87 0 0.00 97 13 11.82 ZNF799 0 genome.wustl.edu 37 19 12501412 12501412 + Silent SNP G G C TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 12501412 12501412 G C SNP ZNF799 ENST00000430385 human ensembl 74_37 -1 known silent c.1800 p.L600 0.030 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 ZNF799 HGNC ENSG00000196466 tier1 - - 91 0 0.00 90 7 7.22 ZNF799 0 genome.wustl.edu 37 19 12502895 12502895 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 12502895 12502895 C T SNP ZNF799 ENST00000430385 human ensembl 74_37 -1 known missense c.317 p.R106H 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 ZNF799 HGNC ENSG00000196466 tier1 - - 76 0 0.00 63 4 5.97 ZNF850 0 genome.wustl.edu 37 19 37241026 37241026 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 19 37241026 37241026 C T SNP ZNF850 ENST00000591344 human ensembl 74_37 -1 known missense c.916 p.E306K 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF850 HGNC ENSG00000267041 tier1 - - 119 0 0.00 81 32 28.32 ZNFX1 0 genome.wustl.edu 37 20 47858422 47858422 + Missense_Mutation SNP C C A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 20 47858422 47858422 C A SNP ZNFX1 ENST00000371754 human ensembl 74_37 -1 known missense c.3351 p.M1117I 0.000 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors ZNFX1 HGNC ENSG00000124201 tier1 - - 79 0 0.00 76 8 9.52 ZSCAN2 0 genome.wustl.edu 37 15 85164083 85164083 + Silent SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 15 85164083 85164083 G A SNP ZSCAN2 ENST00000448803 human ensembl 74_37 +1 known silent c.657 p.E219 1.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN2 HGNC ENSG00000176371 tier1 - - 60 0 0.00 43 6 12.24 ZSWIM1 0 genome.wustl.edu 37 20 44511255 44511255 + Silent SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 20 44511255 44511255 G A SNP ZSWIM1 ENST00000372520 human ensembl 74_37 +1 known silent c.24 p.P8 0.000 NULL pfam_Znf_SWIM,pfscan_Znf_SWIM - no_errors ZSWIM1 HGNC ENSG00000168612 tier1 - - 71 0 0.00 74 5 6.33 ZZZ3 0 genome.wustl.edu 37 1 78030138 78030139 + RNA INS - - A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4bd3b4e5-e2b6-4284-8795-dddc24036dab ff38463f-abca-4748-8f03-c4eab0947896 1 78030138 78030139 - A INS ZZZ3 ENST00000481346 human ensembl 74_37 -1 known rna NULL NULL 0.012:0.000 - - - no_errors ZZZ3 HGNC ENSG00000036549 tier1 44 0 0.00 29 2 6.45