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 ACACA 0 genome.wustl.edu 37 17 35518738 35518738 + Missense_Mutation SNP T T C TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 17 35518738 35518738 T C SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.5306 p.H1769R 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_N pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 tier1 - - 40 0 0.00 44 4 8.16 ADAT1 0 genome.wustl.edu 37 16 75637047 75637047 + Missense_Mutation SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 16 75637047 75637047 G T SNP ADAT1 ENST00000307921 human ensembl 74_37 -1 known missense c.1312 p.L438I 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,smart_A_deamin,pfscan_A_deamin - no_errors ADAT1 HGNC ENSG00000065457 tier1 - - 44 0 0.00 32 4 11.11 ADH6 0 genome.wustl.edu 37 4 100137153 100137153 + RNA SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 4 100137153 100137153 G T SNP ADH6 ENST00000513262 human ensembl 74_37 -1 putative rna NULL NULL 0.004 - - - no_errors ADH6 HGNC ENSG00000172955 tier1 - - 27 0 0.00 22 6 21.43 AGO4 0 genome.wustl.edu 37 1 36290920 36290920 + Missense_Mutation SNP A A G TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 1 36290920 36290920 A G SNP AGO4 ENST00000373210 human ensembl 74_37 +1 known missense c.313 p.M105V 1.000 superfamily_PAZ_dom pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO4 HGNC ENSG00000134698 tier1 - - 47 0 0.00 41 8 16.33 AKAP9 0 genome.wustl.edu 37 7 91624022 91624022 + Missense_Mutation SNP G G A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 7 91624022 91624022 G A SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.700 p.D234N 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 22 0 0.00 26 2 7.14 AKT3 0 genome.wustl.edu 37 1 243675719 243675719 + Missense_Mutation SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 1 243675719 243675719 G T SNP AKT3 ENST00000263826 human ensembl 74_37 -1 known missense c.1261 p.P421T 1.000 superfamily_Kinase-like_dom,smart_AGC-kinase_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT3 HGNC ENSG00000117020 32 0 0.00 49 5 9.26 ANKS1B 0 genome.wustl.edu 37 12 99548119 99548119 + Missense_Mutation SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 12 99548119 99548119 G T SNP ANKS1B ENST00000329257 human ensembl 74_37 -1 known missense c.2474 p.P825H 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1B HGNC ENSG00000185046 38 0 0.00 36 4 10.00 AP3B1 0 genome.wustl.edu 37 5 77477446 77477446 + Missense_Mutation SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 5 77477446 77477446 G T SNP AP3B1 ENST00000255194 human ensembl 74_37 -1 known missense c.827 p.S276Y 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 35 0 0.00 42 3 6.67 APOA1 0 genome.wustl.edu 37 11 116706854 116706854 + Silent SNP C C T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 11 116706854 116706854 C T SNP APOA1 ENST00000236850 human ensembl 74_37 -1 known silent c.474 p.L158 0.989 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA1 HGNC ENSG00000118137 30 0 0.00 30 3 9.09 ASB5 0 genome.wustl.edu 37 4 177158564 177158564 + RNA SNP G G A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 4 177158564 177158564 G A SNP ASB5 ENST00000511879 human ensembl 74_37 -1 known rna NULL NULL 0.863 - - - no_errors ASB5 HGNC ENSG00000164122 tier1 - - 64 0 0.00 67 18 21.18 ASPM 0 genome.wustl.edu 37 1 197070956 197070956 + Missense_Mutation SNP C C A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 1 197070956 197070956 C A SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.7425 p.K2475N 0.021 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 tier1 - - 86 0 0.00 106 16 13.11 ASTL 0 genome.wustl.edu 37 2 96789707 96789707 + Missense_Mutation SNP G G A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 2 96789707 96789707 G A SNP ASTL ENST00000342380 human ensembl 74_37 -1 known missense c.1178 p.T393I 0.000 NULL pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A - no_errors ASTL HGNC ENSG00000188886 tier1 - - 41 0 0.00 35 6 14.63 ASXL3 0 genome.wustl.edu 37 18 31323088 31323088 + Silent SNP G G A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 18 31323088 31323088 G A SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known silent c.3276 p.E1092 0.934 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 tier1 - - 31 0 0.00 26 6 18.75 ATAD3A 0 genome.wustl.edu 37 1 1458215 1458215 + Missense_Mutation SNP A A T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 1 1458215 1458215 A T SNP ATAD3A ENST00000378755 human ensembl 74_37 +1 known missense c.986 p.K329M 1.000 pfam_DUF3523 pfam_DUF3523,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD3A HGNC ENSG00000197785 tier1 - - 97 0 0.00 102 19 15.70 ATP13A1 0 genome.wustl.edu 37 19 19758016 19758016 + Silent SNP T T A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 19 19758016 19758016 T A SNP ATP13A1 ENST00000357324 human ensembl 74_37 -1 known silent c.3027 p.G1009 0.010 tigrfam_ATPase_P-typ_Cation_typ_V 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_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A1 HGNC ENSG00000105726 tier1 - - 39 0 0.00 25 5 16.67 ATP2B4 0 genome.wustl.edu 37 1 203672839 203672839 + Missense_Mutation SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 1 203672839 203672839 G T SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known missense c.997 p.D333Y 0.985 pfam_ATPase_P-typ_transduc_dom_A pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B4 HGNC ENSG00000058668 tier1 - - 34 0 0.00 18 3 14.29 ATXN7 0 genome.wustl.edu 37 3 63898558 63898558 + Missense_Mutation SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 3 63898558 63898558 G T SNP ATXN7 ENST00000398590 human ensembl 74_37 +1 known missense c.284 p.W95L 1.000 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 tier1 - - 76 0 0.00 67 4 5.63 BACH2 0 genome.wustl.edu 37 6 90642291 90642291 + Missense_Mutation SNP C C T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 6 90642291 90642291 C T SNP BACH2 ENST00000257749 human ensembl 74_37 -1 known missense c.2362 p.E788K 1.000 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 33 0 0.00 17 2 10.53 BNIP2 0 genome.wustl.edu 37 15 59970196 59970196 + Missense_Mutation SNP C C T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 15 59970196 59970196 C T SNP BNIP2 ENST00000267859 human ensembl 74_37 -1 known missense c.749 p.R250H 1.000 pfam_Bcl2-/adenovirus-E1B pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors BNIP2 HGNC ENSG00000140299 tier1 rs144319954 - 34 0 0.00 39 8 17.02 BRINP2 0 genome.wustl.edu 37 1 177250911 177250911 + RNA SNP C C A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 1 177250911 177250911 C A SNP BRINP2 ENST00000478325 human ensembl 74_37 +1 known rna NULL NULL 0.091 - - - no_errors BRINP2 HGNC ENSG00000198797 tier1 - - 38 0 0.00 51 10 16.39 C12orf66 0 genome.wustl.edu 37 12 64609541 64609541 + Missense_Mutation SNP C C A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 12 64609541 64609541 C A SNP C12orf66 ENST00000398055 human ensembl 74_37 -1 known missense c.438 p.M146I 1.000 pfam_DUF2003 pfam_DUF2003 - no_errors C12orf66 HGNC ENSG00000174206 tier1 - - 61 0 0.00 68 13 16.05 C17orf62 0 genome.wustl.edu 37 17 80407052 80407052 + Missense_Mutation SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 17 80407052 80407052 G T SNP C17orf62 ENST00000306645 human ensembl 74_37 -1 known missense c.79 p.L27M 0.994 NULL NULL - no_errors C17orf62 HGNC ENSG00000178927 tier1 - - 50 0 0.00 59 4 6.35 C4orf21 0 genome.wustl.edu 37 4 113506828 113506828 + Missense_Mutation SNP A A G TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 4 113506828 113506828 A G SNP C4orf21 ENST00000505019 human ensembl 74_37 -1 known missense c.3970 p.S1324P 0.973 NULL pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase - no_errors C4orf21 HGNC ENSG00000138658 tier1 - - 42 0 0.00 35 7 16.67 C9orf43 0 genome.wustl.edu 37 9 116186500 116186500 + Missense_Mutation SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 9 116186500 116186500 G T SNP C9orf43 ENST00000288462 human ensembl 74_37 +1 known missense c.711 p.L237F 0.867 NULL NULL - no_errors C9orf43 HGNC ENSG00000157653 tier1 - - 21 0 0.00 40 7 14.89 CAPN6 0 genome.wustl.edu 37 X 110495711 110495711 + Nonsense_Mutation SNP C C A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 X 110495711 110495711 C A SNP CAPN6 ENST00000324068 human ensembl 74_37 -1 known nonsense c.523 p.E175* 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN6 HGNC ENSG00000077274 tier1 - - 19 0 0.00 33 8 19.51 CCDC62 0 genome.wustl.edu 37 12 123282748 123282748 + Splice_Site SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 12 123282748 123282748 G T SNP CCDC62 ENST00000253079 human ensembl 74_37 +1 known splice_site c.977+1 e8+1 1.000 - - - no_errors CCDC62 HGNC ENSG00000130783 34 0 0.00 37 2 5.13 CDH22 0 genome.wustl.edu 37 20 44856175 44856175 + Missense_Mutation SNP C C A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 20 44856175 44856175 C A SNP CDH22 ENST00000372262 human ensembl 74_37 -1 known missense c.642 p.E214D 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH22 HGNC ENSG00000149654 tier1 - - 42 0 0.00 41 12 22.64 CENPT 0 genome.wustl.edu 37 16 67865492 67865492 + Missense_Mutation SNP A A G TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 16 67865492 67865492 A G SNP CENPT ENST00000219172 human ensembl 74_37 -1 known missense c.547 p.S183P 0.098 NULL superfamily_Histone-fold - no_errors CENPT HGNC ENSG00000102901 16 0 0.00 39 4 9.30 CERS5 0 genome.wustl.edu 37 12 50531578 50531578 + Missense_Mutation SNP T T C TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 12 50531578 50531578 T C SNP CERS5 ENST00000317551 human ensembl 74_37 -1 known missense c.569 p.Y190C 1.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS5 HGNC ENSG00000139624 tier1 - - 35 0 0.00 30 9 23.08 CERS6 0 genome.wustl.edu 37 2 169626102 169626102 + Missense_Mutation SNP C C T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 2 169626102 169626102 C T SNP CERS6 ENST00000392687 human ensembl 74_37 +1 known missense c.1109 p.A370V 0.233 pirsf_Longevity_assurance_LAG1_LAC1 pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS6 HGNC ENSG00000172292 38 0 0.00 58 4 6.45 CFDP1 0 genome.wustl.edu 37 16 75327732 75327732 + RNA DEL A A - TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 16 75327732 75327732 A - DEL CFDP1 ENST00000570103 human ensembl 74_37 -1 known rna NULL NULL 0.940 - - - no_errors CFDP1 HGNC ENSG00000153774 tier1 16 0 0.00 17 3 15.00 CIR1 0 genome.wustl.edu 37 2 175213649 175213649 + Missense_Mutation SNP T T C TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 2 175213649 175213649 T C SNP CIR1 ENST00000342016 human ensembl 74_37 -1 known missense c.929 p.K310R 0.093 NULL pfam_CIR_N_dom,superfamily_Znf_CCHC - no_errors CIR1 HGNC ENSG00000138433 tier1 - - 32 0 0.00 32 4 11.11 COL15A1 0 genome.wustl.edu 37 9 101811974 101811974 + Silent SNP C C T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 9 101811974 101811974 C T SNP COL15A1 ENST00000375001 human ensembl 74_37 +1 known silent c.2796 p.G932 0.945 superfamily_C-type_lectin_fold pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 tier1 - - 57 0 0.00 38 23 37.70 COL2A1 0 genome.wustl.edu 37 12 48391685 48391685 + Missense_Mutation SNP G G A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 12 48391685 48391685 G A SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known missense c.398 p.P133L 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 tier1 - - 20 0 0.00 21 8 27.59 COL6A6 0 genome.wustl.edu 37 3 130325811 130325811 + Splice_Site SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 3 130325811 130325811 G T SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known splice_site c.4689+1 e20+1 1.000 - - - no_errors COL6A6 HGNC ENSG00000206384 tier1 - - 41 0 0.00 46 4 8.00 COL8A1 0 genome.wustl.edu 37 3 99514062 99514062 + Missense_Mutation SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 3 99514062 99514062 G T SNP COL8A1 ENST00000261037 human ensembl 74_37 +1 known missense c.1317 p.K439N 1.000 pfam_Collagen pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 tier1 - - 46 0 0.00 55 11 16.67 CTNNA2 0 genome.wustl.edu 37 2 80085292 80085292 + Missense_Mutation SNP C C T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 2 80085292 80085292 C T SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.554 p.S185F 0.969 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 tier1 - - 36 0 0.00 43 9 17.31 CYFIP2 0 genome.wustl.edu 37 5 156747664 156747664 + Missense_Mutation SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 5 156747664 156747664 G T SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known missense c.1525 p.V509F 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 49 0 0.00 44 3 6.38 DCC 0 genome.wustl.edu 37 18 50278474 50278474 + Missense_Mutation SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 18 50278474 50278474 G T SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.142 p.D48Y 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Neogenin_C,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 DCC HGNC ENSG00000187323 34 0 0.00 41 3 6.82 DLK2 0 genome.wustl.edu 37 6 43418528 43418529 + Frame_Shift_Ins INS - - AA TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 6 43418528 43418529 - AA INS DLK2 ENST00000357338 human ensembl 74_37 -1 known frame_shift_ins c.901_900 p.G300fs 0.909:0.004 NULL pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLK2 HGNC ENSG00000171462 tier1 11 0 0.00 16 3 15.79 DPP7 0 genome.wustl.edu 37 9 140007735 140007735 + Missense_Mutation SNP A A T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 9 140007735 140007735 A T SNP DPP7 ENST00000371579 human ensembl 74_37 -1 known missense c.626 p.F209Y 0.978 pfam_Peptidase_S28,pfam_AB_hydrolase_1 pfam_Peptidase_S28,pfam_AB_hydrolase_1 - no_errors DPP7 HGNC ENSG00000176978 tier1 - - 74 0 0.00 108 14 11.48 DSG1 0 genome.wustl.edu 37 18 28911754 28911754 + Missense_Mutation SNP C C A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 18 28911754 28911754 C A SNP DSG1 ENST00000257192 human ensembl 74_37 +1 known missense c.608 p.P203H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin - no_errors DSG1 HGNC ENSG00000134760 30 0 0.00 37 2 5.13 ERMAP 0 genome.wustl.edu 37 1 43308661 43308661 + Nonsense_Mutation SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 1 43308661 43308661 G T SNP ERMAP ENST00000372514 human ensembl 74_37 +1 known nonsense c.1186 p.E396* 0.999 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Ig_V-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 ERMAP HGNC ENSG00000164010 42 0 0.00 53 4 7.02 ESR2 0 genome.wustl.edu 37 14 64746800 64746800 + Missense_Mutation SNP T T C TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 14 64746800 64746800 T C SNP ESR2 ENST00000341099 human ensembl 74_37 -1 known missense c.434 p.D145G 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,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 ESR2 HGNC ENSG00000140009 tier1 - - 52 0 0.00 62 9 12.68 EWSR1 0 genome.wustl.edu 37 22 29686476 29686476 + Missense_Mutation SNP A A T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 22 29686476 29686476 A T SNP EWSR1 ENST00000333395 human ensembl 74_37 +1 putative missense c.1049 p.N350I 1.000 NULL NULL - no_errors EWSR1 HGNC ENSG00000182944 17 0 0.00 22 3 12.00 FAM230A 0 genome.wustl.edu 37 22 20709091 20709091 + Missense_Mutation SNP G G A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 22 20709091 20709091 G A SNP FAM230A ENST00000434783 human ensembl 74_37 +1 known missense c.823 p.A275T 0.830 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors FAM230A HGNC ENSG00000188280 tier1 - - 65 0 0.00 95 10 9.43 FEZF2 0 genome.wustl.edu 37 3 62355953 62355953 + Missense_Mutation SNP G G C TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 3 62355953 62355953 G C SNP FEZF2 ENST00000283268 human ensembl 74_37 -1 known missense c.1185 p.N395K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF2 HGNC ENSG00000153266 tier1 - - 159 0 0.00 132 25 15.82 FLAD1 0 genome.wustl.edu 37 1 154960867 154960867 + Missense_Mutation SNP T T G TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 1 154960867 154960867 T G SNP FLAD1 ENST00000405236 human ensembl 74_37 +1 known missense c.362 p.L121R 1.000 pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom - no_errors FLAD1 HGNC ENSG00000160688 tier1 - - 45 0 0.00 46 9 16.36 FOXL1 0 genome.wustl.edu 37 16 86613176 86613176 + Frame_Shift_Del DEL G G - TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 16 86613176 86613176 G - DEL FOXL1 ENST00000320241 human ensembl 74_37 +1 known frame_shift_del c.847 p.G284fs 0.361 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXL1 HGNC ENSG00000176678 tier1 41 0 0.00 30 2 6.25 FUT5 0 genome.wustl.edu 37 19 5867038 5867038 + Silent SNP G G A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 19 5867038 5867038 G A SNP FUT5 ENST00000252675 human ensembl 74_37 -1 known silent c.699 p.D233 0.554 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT5 HGNC ENSG00000130383 tier1 - - 62 0 0.00 61 15 19.74 GOLGA2P5 0 genome.wustl.edu 37 12 100562921 100562921 + RNA DEL T T - TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 12 100562921 100562921 T - DEL GOLGA2P5 ENST00000421840 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 tier1 16 0 0.00 20 3 13.04 GPR83 0 genome.wustl.edu 37 11 94126685 94126686 + Frame_Shift_Ins INS - - A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 11 94126685 94126686 - A INS GPR83 ENST00000243673 human ensembl 74_37 -1 known frame_shift_ins c.613_612 p.A204fs 1.000:0.938 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_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GPR83 HGNC ENSG00000123901 tier1 64 0 0.00 66 17 20.48 GPR98 0 genome.wustl.edu 37 5 90041550 90041550 + Missense_Mutation SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 5 90041550 90041550 G T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.10912 p.D3638Y 0.687 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 - - 38 0 0.00 21 3 12.50 GSDMA 0 genome.wustl.edu 37 17 38122104 38122104 + Missense_Mutation SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 17 38122104 38122104 G T SNP GSDMA ENST00000301659 human ensembl 74_37 +1 known missense c.164 p.R55L 0.242 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMA HGNC ENSG00000167914 tier1 - - 37 0 0.00 38 9 19.15 HERC2P9 0 genome.wustl.edu 37 15 28929558 28929558 + RNA SNP A A G TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 15 28929558 28929558 A G SNP HERC2P9 ENST00000528584 human ensembl 74_37 +1 known rna NULL NULL 0.325 - - - no_errors HERC2P9 HGNC ENSG00000206149 tier1 - - 48 0 0.00 54 13 19.40 HIST1H2AK 0 genome.wustl.edu 37 6 27805782 27805783 + Frame_Shift_Ins INS - - A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 6 27805782 27805783 - A INS HIST1H2AK ENST00000330180 human ensembl 74_37 -1 known frame_shift_ins c.336_335 p.Q113fs 1.000:1.000 superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AK HGNC ENSG00000184348 tier1 158 0 0.00 163 23 12.37 HSPA12A 0 genome.wustl.edu 37 10 118443327 118443327 + Missense_Mutation SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 10 118443327 118443327 G T SNP HSPA12A ENST00000369209 human ensembl 74_37 -1 known missense c.810 p.D270E 1.000 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 49 0 0.00 42 3 6.67 HUWE1 0 genome.wustl.edu 37 X 53573489 53573489 + Missense_Mutation SNP A A C TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 X 53573489 53573489 A C SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.10823 p.L3608R 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 - - 14 0 0.00 14 5 26.32 ITGA7 0 genome.wustl.edu 37 12 56092633 56092633 + Missense_Mutation SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 12 56092633 56092633 G T SNP ITGA7 ENST00000555728 human ensembl 74_37 -1 known missense c.991 p.R331S 1.000 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 tier1 - - 34 0 0.00 36 9 20.00 KIAA0922 0 genome.wustl.edu 37 4 154471245 154471245 + Missense_Mutation SNP G G C TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 4 154471245 154471245 G C SNP KIAA0922 ENST00000409959 human ensembl 74_37 +1 known missense c.260 p.S87T 0.999 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 tier1 - - 31 0 0.00 25 11 30.56 LEMD3 0 genome.wustl.edu 37 12 65564146 65564146 + Missense_Mutation SNP A A T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 12 65564146 65564146 A T SNP LEMD3 ENST00000308330 human ensembl 74_37 +1 known missense c.770 p.N257I 0.985 NULL pfam_Inner-Nucl-membr_MAN1,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom - no_errors LEMD3 HGNC ENSG00000174106 14 0 0.00 25 5 16.67 LINC00304 0 genome.wustl.edu 37 16 89226823 89226823 + RNA SNP A A G TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 16 89226823 89226823 A G SNP LINC00304 ENST00000321214 human ensembl 74_37 +1 known rna NULL NULL 0.389 - - - no_errors LINC00304 HGNC ENSG00000180422 tier1 - - 25 0 0.00 26 6 18.75 LMAN1 0 genome.wustl.edu 37 18 57016376 57016376 + Frame_Shift_Del DEL A A - TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 18 57016376 57016376 A - DEL LMAN1 ENST00000251047 human ensembl 74_37 -1 known frame_shift_del c.732 p.F244fs 1.000 pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_box_dom - no_errors LMAN1 HGNC ENSG00000074695 tier1 22 0 0.00 21 2 8.70 LOC730811 0 genome.wustl.edu 37 2 2328454 2328454 + RNA SNP C C A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 2 2328454 2328454 C A SNP LOC730811 ENST00000422175 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC009232.2 Clone_based_vega_gene ENSG00000225619 tier1 - - 35 0 0.00 40 7 14.89 LRPPRC 0 genome.wustl.edu 37 2 44187730 44187730 + Missense_Mutation SNP C C A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 2 44187730 44187730 C A SNP LRPPRC ENST00000260665 human ensembl 74_37 -1 known missense c.1532 p.G511V 0.885 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 tier1 - - 55 0 0.00 59 13 18.06 LTK 0 genome.wustl.edu 37 15 41797421 41797421 + Frame_Shift_Del DEL T T - TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 15 41797421 41797421 T - DEL LTK ENST00000263800 human ensembl 74_37 -1 known frame_shift_del c.1910 p.N637fs 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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LTK HGNC ENSG00000062524 tier1 40 0 0.00 18 2 10.00 LZTR1 0 genome.wustl.edu 37 22 21348236 21348236 + Silent SNP C C T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 22 21348236 21348236 C T SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known silent c.1377 p.H459 0.953 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 tier1 - - 49 0 0.00 42 11 20.75 MAB21L2 0 genome.wustl.edu 37 4 151504688 151504688 + Missense_Mutation SNP A A T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 4 151504688 151504688 A T SNP MAB21L2 ENST00000317605 human ensembl 74_37 +1 known missense c.507 p.Q169H 0.981 pfam_Mab-21_dom pfam_Mab-21_dom,pfscan_Ricin_B_lectin - no_errors MAB21L2 HGNC ENSG00000181541 19 0 0.00 37 4 9.76 MAP4K5 0 genome.wustl.edu 37 14 50914184 50914184 + Missense_Mutation SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 14 50914184 50914184 G T SNP MAP4K5 ENST00000013125 human ensembl 74_37 -1 known missense c.1090 p.P364T 1.000 superfamily_Kinase-like_dom pfam_Citron,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,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K5 HGNC ENSG00000012983 tier1 - - 71 0 0.00 62 4 6.06 MBP 0 genome.wustl.edu 37 18 74696752 74696752 + Missense_Mutation SNP C C T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 18 74696752 74696752 C T SNP MBP ENST00000528160 human ensembl 74_37 -1 novel missense c.101 p.R34H 1.000 NULL NULL - no_errors MBP HGNC ENSG00000197971 tier1 - - 61 0 0.00 57 10 14.93 MBTPS2 0 genome.wustl.edu 37 X 21861336 21861336 + Missense_Mutation SNP G G A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 X 21861336 21861336 G A SNP MBTPS2 ENST00000379484 human ensembl 74_37 +1 known missense c.124 p.G42R 0.996 NULL pfam_Peptidase_M50,superfamily_PDZ,prints_MBTPS2 - no_errors MBTPS2 HGNC ENSG00000012174 tier1 - - 42 0 0.00 48 10 17.24 MCC 0 genome.wustl.edu 37 5 112389443 112389444 + Frame_Shift_Ins INS - - A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 5 112389443 112389444 - A INS MCC ENST00000302475 human ensembl 74_37 -1 known frame_shift_ins c.1857_1856 p.M619fs 1.000:1.000 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 tier1 37 0 0.00 33 11 25.00 MCF2L 0 genome.wustl.edu 37 13 113724463 113724463 + Silent SNP G G A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 13 113724463 113724463 G A SNP MCF2L ENST00000375604 human ensembl 74_37 +1 known silent c.1143 p.R381 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 tier1 - - 70 0 0.00 57 4 6.45 MCF2L2 0 genome.wustl.edu 37 3 182941140 182941140 + Silent SNP C C G TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 3 182941140 182941140 C G SNP MCF2L2 ENST00000328913 human ensembl 74_37 -1 known silent c.2295 p.L765 0.996 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 25 0 0.00 17 6 26.09 MIR3143 0 genome.wustl.edu 37 6 27115407 27115407 + RNA SNP G G A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 6 27115407 27115407 G A SNP MIR3143 ENST00000584253 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR3143 HGNC ENSG00000265565 tier1 - - 35 0 0.00 48 8 14.29 MIR764 0 genome.wustl.edu 37 X 113873947 113873947 + RNA SNP C C A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 X 113873947 113873947 C A SNP MIR764 ENST00000390811 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR764 HGNC ENSG00000212100 tier1 - - 27 0 0.00 21 9 30.00 MSL2 0 genome.wustl.edu 37 3 135871405 135871405 + Silent SNP T T C TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 3 135871405 135871405 T C SNP MSL2 ENST00000309993 human ensembl 74_37 -1 known silent c.318 p.L106 0.942 NULL pfscan_Znf_RING - no_errors MSL2 HGNC ENSG00000174579 tier1 - - 63 0 0.00 76 19 20.00 MTHFD1L 0 genome.wustl.edu 37 6 151247388 151247388 + Missense_Mutation SNP A A G TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 6 151247388 151247388 A G SNP MTHFD1L ENST00000367321 human ensembl 74_37 +1 known missense c.1213 p.R405G 0.999 pfam_Formate_THF_ligase,superfamily_P-loop_NTPase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase - no_errors MTHFD1L HGNC ENSG00000120254 tier1 - - 70 0 0.00 38 9 19.15 MTOR 0 genome.wustl.edu 37 1 11292543 11292543 + Missense_Mutation SNP T T C TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 1 11292543 11292543 T C SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.2464 p.I822V 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 tier1 - - 20 0 0.00 23 8 25.81 MYH15 0 genome.wustl.edu 37 3 108127166 108127166 + Missense_Mutation SNP T T A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 3 108127166 108127166 T A SNP MYH15 ENST00000273353 human ensembl 74_37 -1 known missense c.4641 p.E1547D 0.931 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 tier1 - - 57 0 0.00 82 6 6.82 MYH4 0 genome.wustl.edu 37 17 10350382 10350382 + Missense_Mutation SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 17 10350382 10350382 G T SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.5117 p.A1706E 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 tier1 - - 50 0 0.00 63 9 12.50 MYH7 0 genome.wustl.edu 37 14 23898239 23898239 + Silent SNP A A G TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 14 23898239 23898239 A G SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known silent c.1332 p.N444 0.977 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 tier1 - - 55 0 0.00 62 19 23.46 MYH7 0 genome.wustl.edu 37 14 23898270 23898270 + Missense_Mutation SNP C C T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 14 23898270 23898270 C T SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.1301 p.R434K 0.997 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 tier1 - - 54 0 0.00 74 21 22.11 NEB 0 genome.wustl.edu 37 2 152425154 152425154 + Missense_Mutation SNP T T C TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 2 152425154 152425154 T C SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.17612 p.Q5871R 0.950 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 48 0 0.00 50 4 7.41 NFE2L1 0 genome.wustl.edu 37 17 46135808 46135808 + Missense_Mutation SNP T T C TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 17 46135808 46135808 T C SNP NFE2L1 ENST00000362042 human ensembl 74_37 +1 known missense c.1124 p.F375S 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 27 0 0.00 31 2 6.06 NUP210 0 genome.wustl.edu 37 3 13373869 13373869 + Nonsense_Mutation SNP G G A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 3 13373869 13373869 G A SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known nonsense c.3859 p.Q1287* 0.999 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 74 0 0.00 75 4 5.06 NXPE4 0 genome.wustl.edu 37 11 114450998 114450998 + Missense_Mutation SNP G G A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 11 114450998 114450998 G A SNP NXPE4 ENST00000375478 human ensembl 74_37 -1 known missense c.955 p.H319Y 0.001 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE4 HGNC ENSG00000137634 53 0 0.00 60 4 6.25 OGT 0 genome.wustl.edu 37 X 70783039 70783039 + Silent SNP G G C TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 X 70783039 70783039 G C SNP OGT ENST00000373719 human ensembl 74_37 +1 known silent c.2208 p.L736 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors OGT HGNC ENSG00000147162 tier1 - - 32 0 0.00 25 4 13.79 OPN3 0 genome.wustl.edu 37 1 241767755 241767755 + Missense_Mutation SNP G G C TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 1 241767755 241767755 G C SNP OPN3 ENST00000366554 human ensembl 74_37 -1 known missense c.500 p.A167G 0.784 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OPN3 HGNC ENSG00000054277 tier1 - - 37 0 0.00 44 11 20.00 OR5H14 0 genome.wustl.edu 37 3 97868967 97868967 + Silent SNP A A G TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 3 97868967 97868967 A G SNP OR5H14 ENST00000437310 human ensembl 74_37 +1 known silent c.738 p.L246 0.010 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 OR5H14 HGNC ENSG00000236032 45 0 0.00 63 4 5.97 OR5H6 0 genome.wustl.edu 37 3 97983602 97983602 + Silent SNP T T C TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 3 97983602 97983602 T C SNP OR5H6 ENST00000383696 human ensembl 74_37 +1 known silent c.474 p.I158 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H6 HGNC ENSG00000230301 tier1 rs75354046 - 45 0 0.00 86 6 6.52 OR8B3 0 genome.wustl.edu 37 11 124266927 124266927 + Silent SNP A A G TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 11 124266927 124266927 A G SNP OR8B3 ENST00000354597 human ensembl 74_37 -1 known silent c.321 p.F107 0.691 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 OR8B3 HGNC ENSG00000196661 37 0 0.00 25 2 7.41 PCLO 0 genome.wustl.edu 37 7 82580258 82580258 + Missense_Mutation SNP A A C TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 7 82580258 82580258 A C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.9646 p.L3216V 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 39 0 0.00 27 6 18.18 PCNT 0 genome.wustl.edu 37 21 47849958 47849958 + Missense_Mutation SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 21 47849958 47849958 G T SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.7725 p.K2575N 0.237 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 tier1 - - 47 0 0.00 56 4 6.67 PHF20 0 genome.wustl.edu 37 20 34443197 34443197 + RNA SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 20 34443197 34443197 G T SNP PHF20 ENST00000486408 human ensembl 74_37 +1 known rna NULL NULL 0.132 - - - no_errors PHF20 HGNC ENSG00000025293 tier1 - - 73 0 0.00 47 4 7.84 PHF3 0 genome.wustl.edu 37 6 64487856 64487856 + RNA SNP G G A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 6 64487856 64487856 G A SNP PHF3 ENST00000420043 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors PHF3 HGNC ENSG00000118482 tier1 - - 38 0 0.00 54 4 6.90 PIEZO2 0 genome.wustl.edu 37 18 10681730 10681730 + Silent SNP G G A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 18 10681730 10681730 G A SNP PIEZO2 ENST00000538948 human ensembl 74_37 -1 known silent c.1239 p.A413 1.000 pfam_Piezo pfam_Piezo - no_errors PIEZO2 HGNC ENSG00000154864 42 0 0.00 33 5 13.16 PIK3CD 0 genome.wustl.edu 37 1 9775790 9775790 + Missense_Mutation SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 1 9775790 9775790 G T SNP PIK3CD ENST00000536656 human ensembl 74_37 +1 known missense c.333 p.K111N 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 tier1 - - 42 0 0.00 53 4 7.02 PIP5K1C 0 genome.wustl.edu 37 19 3644144 3644144 + Missense_Mutation SNP C C T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 19 3644144 3644144 C T SNP PIP5K1C ENST00000537021 human ensembl 74_37 -1 known missense c.1451 p.R484Q 1.000 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 tier1 - - 60 0 0.00 57 15 20.55 PNN 0 genome.wustl.edu 37 14 39650489 39650489 + Nonsense_Mutation SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 14 39650489 39650489 G T SNP PNN ENST00000216832 human ensembl 74_37 +1 known nonsense c.1576 p.E526* 1.000 NULL pfam_Pinin_SDK_N,pfam_Pinin_SDK_MemA - no_errors PNN HGNC ENSG00000100941 38 0 0.00 38 2 5.00 PRKACA 0 genome.wustl.edu 37 19 14208265 14208265 + Missense_Mutation SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 19 14208265 14208265 G T SNP PRKACA ENST00000308677 human ensembl 74_37 -1 known missense c.673 p.L225M 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,prints_Ser-Thr/Tyr_kinase_cat_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,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACA HGNC ENSG00000072062 tier1 - - 24 0 0.00 19 5 20.83 PROB1 0 genome.wustl.edu 37 5 138729546 138729546 + Missense_Mutation SNP A A T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 5 138729546 138729546 A T SNP PROB1 ENST00000434752 human ensembl 74_37 -1 known missense c.1225 p.C409S 0.970 NULL NULL - no_errors PROB1 HGNC ENSG00000228672 tier1 - - 46 0 0.00 22 7 24.14 PRRC2C 0 genome.wustl.edu 37 1 171511148 171511149 + Frame_Shift_Ins INS - - A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 1 171511148 171511149 - A INS PRRC2C ENST00000392078 human ensembl 74_37 +1 known frame_shift_ins c.4543_4544 p.N1518fs 1.000:1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 tier1 12 0 0.00 10 3 23.08 PTPRF 0 genome.wustl.edu 37 1 44019257 44019257 + Silent SNP G G A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 1 44019257 44019257 G A SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known silent c.186 p.P62 0.029 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 tier1 - - 59 0 0.00 53 10 15.87 PTPRU 0 genome.wustl.edu 37 1 29647330 29647330 + Missense_Mutation SNP C C A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 1 29647330 29647330 C A SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.3851 p.S1284Y 0.999 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 tier1 - - 46 0 0.00 57 10 14.93 PTPRU 0 genome.wustl.edu 37 1 29647331 29647331 + Silent SNP C C A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 1 29647331 29647331 C A SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known silent c.3852 p.S1284 0.151 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 tier1 - - 45 0 0.00 55 10 15.38 RBMXL1 0 genome.wustl.edu 37 1 89448692 89448692 + Missense_Mutation SNP G G A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 1 89448692 89448692 G A SNP RBMXL1 ENST00000321792 human ensembl 74_37 -1 known missense c.818 p.S273L 0.998 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL1 HGNC ENSG00000213516 tier1 - - 100 0 0.00 81 18 18.18 RCOR1 0 genome.wustl.edu 37 14 103180893 103180893 + Missense_Mutation SNP C C T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 14 103180893 103180893 C T SNP RCOR1 ENST00000262241 human ensembl 74_37 +1 known missense c.992 p.A331V 1.000 NULL pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom,prints_Antifreeze_1 - no_errors RCOR1 HGNC ENSG00000089902 18 0 0.00 22 2 8.33 REXO1L1 0 genome.wustl.edu 37 8 86575286 86575286 + Silent SNP T T A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 8 86575286 86575286 T A SNP REXO1L1 ENST00000379010 human ensembl 74_37 -1 putative silent c.441 p.A147 0.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1L1 HGNC ENSG00000205176 122 0 0.00 130 7 5.11 RHOD 0 genome.wustl.edu 37 11 66834221 66834221 + Missense_Mutation SNP A A G TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 11 66834221 66834221 A G SNP RHOD ENST00000308831 human ensembl 74_37 +1 known missense c.233 p.Y78C 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOD HGNC ENSG00000173156 24 0 0.00 36 2 5.26 RIMS1 0 genome.wustl.edu 37 6 73043353 73043353 + Missense_Mutation SNP C C T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 6 73043353 73043353 C T SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.4181 p.S1394F 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 30 0 0.00 32 2 5.88 RNF166 0 genome.wustl.edu 37 16 88766056 88766056 + Missense_Mutation SNP C C T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 16 88766056 88766056 C T SNP RNF166 ENST00000312838 human ensembl 74_37 -1 known missense c.397 p.V133M 1.000 NULL pfam_Di19_Zn_binding,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF166 HGNC ENSG00000158717 tier1 - - 36 0 0.00 43 4 8.51 RNF19A 0 genome.wustl.edu 37 8 101300299 101300299 + Missense_Mutation SNP T T C TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 8 101300299 101300299 T C SNP RNF19A ENST00000341084 human ensembl 74_37 -1 known missense c.104 p.H35R 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC ENSG00000034677 tier1 - - 25 0 0.00 30 9 23.08 RNLS 0 genome.wustl.edu 37 10 90045196 90045196 + Missense_Mutation SNP C C A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 10 90045196 90045196 C A SNP RNLS ENST00000331772 human ensembl 74_37 -1 known missense c.944 p.G315V 1.000 NULL pfam_Amino_oxidase - no_errors RNLS HGNC ENSG00000184719 tier1 - - 60 0 0.00 79 6 7.06 RRAGC 0 genome.wustl.edu 37 1 39317319 39317319 + Silent SNP G G A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 1 39317319 39317319 G A SNP RRAGC ENST00000373001 human ensembl 74_37 -1 known silent c.867 p.I289 1.000 pfam_Gtr1_RagA pfam_Gtr1_RagA,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase - no_errors RRAGC HGNC ENSG00000116954 38 0 0.00 34 2 5.56 SEL1L3 0 genome.wustl.edu 37 4 25823745 25823745 + Missense_Mutation SNP C C T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 4 25823745 25823745 C T SNP SEL1L3 ENST00000399878 human ensembl 74_37 -1 known missense c.1163 p.R388Q 0.219 superfamily_ConA-like_lec_gl_sf pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 44 0 0.00 34 6 15.00 SF1 0 genome.wustl.edu 37 11 64533469 64533469 + Frame_Shift_Del DEL C C - TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 11 64533469 64533469 C - DEL SF1 ENST00000377390 human ensembl 74_37 -1 known frame_shift_del c.1741 p.A581fs 1.000 NULL pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC ENSG00000168066 tier1 8 0 0.00 7 2 22.22 SH2D1B 0 genome.wustl.edu 37 1 162367093 162367093 + Missense_Mutation SNP C C A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 1 162367093 162367093 C A SNP SH2D1B ENST00000367929 human ensembl 74_37 -1 known missense c.376 p.D126Y 0.007 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2D1B HGNC ENSG00000198574 tier1 - - 24 0 0.00 25 7 21.88 SH2D2A 0 genome.wustl.edu 37 1 156779493 156779493 + Missense_Mutation SNP G G A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 1 156779493 156779493 G A SNP SH2D2A ENST00000392306 human ensembl 74_37 -1 known missense c.704 p.A235V 0.000 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D2A HGNC ENSG00000027869 tier1 - - 56 0 0.00 66 14 17.50 SH2D2A 0 genome.wustl.edu 37 1 156779494 156779494 + Missense_Mutation SNP C C A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 1 156779494 156779494 C A SNP SH2D2A ENST00000392306 human ensembl 74_37 -1 known missense c.703 p.A235S 0.000 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D2A HGNC ENSG00000027869 tier1 - - 56 0 0.00 65 14 17.72 SLC23A2 0 genome.wustl.edu 37 20 4850569 4850569 + Frame_Shift_Del DEL G G - TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 20 4850569 4850569 G - DEL SLC23A2 ENST00000338244 human ensembl 74_37 -1 known frame_shift_del c.1233 p.I412fs 0.974 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A2 HGNC ENSG00000089057 tier1 25 0 0.00 30 4 11.76 SLC6A5 0 genome.wustl.edu 37 11 20623021 20623021 + Missense_Mutation SNP C C T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 11 20623021 20623021 C T SNP SLC6A5 ENST00000525748 human ensembl 74_37 +1 known missense c.350 p.A117V 0.990 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A5 HGNC ENSG00000165970 tier1 - - 41 0 0.00 53 11 17.19 SNX17 0 genome.wustl.edu 37 2 27599187 27599187 + Missense_Mutation SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 2 27599187 27599187 G T SNP SNX17 ENST00000233575 human ensembl 74_37 +1 known missense c.1190 p.R397L 1.000 NULL pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX17 HGNC ENSG00000115234 15 0 0.00 27 5 15.62 SORBS2 0 genome.wustl.edu 37 4 186605996 186605996 + Silent SNP G G A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 4 186605996 186605996 G A SNP SORBS2 ENST00000355634 human ensembl 74_37 -1 putative silent c.15 p.S5 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_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 tier1 - - 24 0 0.00 25 7 21.88 SPTBN2 0 genome.wustl.edu 37 11 66458874 66458874 + Missense_Mutation SNP G G A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 11 66458874 66458874 G A SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known missense c.5446 p.R1816W 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 tier1 - - 27 0 0.00 50 13 20.63 SYNE2 0 genome.wustl.edu 37 14 64520206 64520206 + Missense_Mutation SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 14 64520206 64520206 G T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.9575 p.C3192F 0.992 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 tier1 - - 50 0 0.00 37 4 9.76 TDRD15 0 genome.wustl.edu 37 2 21361130 21361130 + Missense_Mutation SNP C C G TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 2 21361130 21361130 C G SNP TDRD15 ENST00000405799 human ensembl 74_37 +1 novel missense c.791 p.T264S 0.164 pfam_Tudor pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors TDRD15 HGNC ENSG00000218819 tier1 - - 28 0 0.00 9 5 35.71 TLN2 0 genome.wustl.edu 37 15 63042648 63042648 + Silent SNP C C G TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 15 63042648 63042648 C G SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known silent c.4167 p.L1389 1.000 NULL pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 tier1 - - 85 0 0.00 74 14 15.91 TMEM235 0 genome.wustl.edu 37 17 76227704 76227704 + Silent SNP C C A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 17 76227704 76227704 C A SNP TMEM235 ENST00000421688 human ensembl 74_37 +1 known silent c.150 p.S50 0.004 NULL NULL - no_errors TMEM235 HGNC ENSG00000204278 52 0 0.00 46 4 8.00 TP53 0 genome.wustl.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 17 7577538 7577538 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.743 p.R248Q 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs11540652 - 242 0 0.00 214 253 54.18 TRIM24 0 genome.wustl.edu 37 7 138189074 138189074 + Missense_Mutation SNP C C T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 7 138189074 138189074 C T SNP TRIM24 ENST00000343526 human ensembl 74_37 +1 known missense c.404 p.A135V 1.000 NULL pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM24 HGNC ENSG00000122779 tier1 - - 23 0 0.00 15 3 16.67 TTC21B 0 genome.wustl.edu 37 2 166737308 166737308 + Missense_Mutation SNP G G T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 2 166737308 166737308 G T SNP TTC21B ENST00000243344 human ensembl 74_37 -1 known missense c.3686 p.S1229Y 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 18 0 0.00 36 2 5.26 TTI1 0 genome.wustl.edu 37 20 36640246 36640246 + Missense_Mutation SNP T T A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 20 36640246 36640246 T A SNP TTI1 ENST00000373447 human ensembl 74_37 -1 known missense c.1973 p.E658V 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 tier1 - - 38 0 0.00 51 12 19.05 TTN 0 genome.wustl.edu 37 2 179444679 179444679 + Silent SNP A A C TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 2 179444679 179444679 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.59631 p.A19877 0.837 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 28 0 0.00 40 4 9.09 TTN 0 genome.wustl.edu 37 2 179455006 179455006 + Silent SNP A A G TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 2 179455006 179455006 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.53742 p.C17914 0.997 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 68 0 0.00 86 22 20.37 TTN-AS1 0 genome.wustl.edu 37 2 179578934 179578934 + RNA SNP T T C TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 2 179578934 179578934 T C SNP TTN-AS1 ENST00000431752 human ensembl 74_37 +1 known rna NULL NULL 0.082 - - - no_errors TTN-AS1 HGNC ENSG00000237298 tier1 - - 49 0 0.00 57 4 6.56 UMOD 0 genome.wustl.edu 37 16 20360484 20360484 + Missense_Mutation SNP C C T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 16 20360484 20360484 C T SNP UMOD ENST00000424589 human ensembl 74_37 -1 known missense c.238 p.V80I 0.001 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors UMOD HGNC ENSG00000169344 tier1 - - 46 0 0.00 41 4 8.89 WDR70 0 genome.wustl.edu 37 5 37725063 37725063 + Missense_Mutation SNP C C T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 5 37725063 37725063 C T SNP WDR70 ENST00000265107 human ensembl 74_37 +1 known missense c.1625 p.P542L 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR70 HGNC ENSG00000082068 tier1 - - 37 0 0.00 54 9 14.29 WNT3A 0 genome.wustl.edu 37 1 228210523 228210523 + Missense_Mutation SNP A A T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 1 228210523 228210523 A T SNP WNT3A ENST00000366753 human ensembl 74_37 +1 known missense c.227 p.E76V 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3 - no_errors WNT3A HGNC ENSG00000154342 tier1 - - 31 0 0.00 53 8 13.11 ZBTB22 0 genome.wustl.edu 37 6 33284415 33284415 + Silent SNP G G A TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 6 33284415 33284415 G A SNP ZBTB22 ENST00000418724 human ensembl 74_37 -1 known silent c.279 p.S93 0.995 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB22 HGNC ENSG00000236104 tier1 - - 50 0 0.00 51 13 20.31 ZMYND19 0 genome.wustl.edu 37 9 140482271 140482271 + Missense_Mutation SNP C C T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 9 140482271 140482271 C T SNP ZMYND19 ENST00000298585 human ensembl 74_37 -1 known missense c.116 p.R39Q 1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND19 HGNC ENSG00000165724 tier1 - - 71 0 0.00 42 8 16.00 ZNF487 0 genome.wustl.edu 37 10 43977916 43977916 + Missense_Mutation SNP C C G TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 10 43977916 43977916 C G SNP ZNF487 ENST00000431662 human ensembl 74_37 +1 known missense c.831 p.I277M 0.982 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF487 HGNC ENSG00000243660 19 0 0.00 15 2 11.76 ZNF860 0 genome.wustl.edu 37 3 32030982 32030982 + Silent SNP C C T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 3 32030982 32030982 C T SNP ZNF860 ENST00000360311 human ensembl 74_37 +1 known silent c.411 p.S137 0.001 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 ZNF860 HGNC ENSG00000197385 tier1 - - 60 0 0.00 59 5 7.81 ZNF876P 0 genome.wustl.edu 37 4 248026 248026 + RNA SNP A A G TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4704fb64-2188-4d0c-9998-8454caf72eb2 ed9afb38-29fe-4207-a07b-f6a68ba2cf45 4 248026 248026 A G SNP ZNF876P ENST00000356347 human ensembl 74_37 +1 known rna NULL NULL 0.351 - - - no_errors ZNF876P HGNC ENSG00000198155 tier1 - - 32 0 0.00 26 4 13.33