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 AGAP5 0 genome.wustl.edu 37 10 75435828 75435828 + Missense_Mutation SNP G G A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 10 75435828 75435828 G A SNP AGAP5 ENST00000374094 human ensembl 74_37 -1 known missense c.590 p.S197F 0.999 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP5 HGNC ENSG00000172650 tier1 - - 47 0 0.00 42 8 16.00 AGBL1 0 genome.wustl.edu 37 15 86838560 86838560 + Silent SNP G G A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 15 86838560 86838560 G A SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known silent c.2157 p.T719 0.000 pfam_Peptidase_M14 pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 tier1 - - 36 0 0.00 49 7 12.50 ALDH1A3 0 genome.wustl.edu 37 15 101445785 101445785 + Missense_Mutation SNP G G A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 15 101445785 101445785 G A SNP ALDH1A3 ENST00000329841 human ensembl 74_37 +1 known missense c.1126 p.G376R 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ENSG00000184254 tier1 - - 37 0 0.00 35 8 18.18 ANKHD1 0 genome.wustl.edu 37 5 139917030 139917030 + Nonsense_Mutation SNP C C T TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 5 139917030 139917030 C T SNP ANKHD1 ENST00000297183 human ensembl 74_37 +1 known nonsense c.7084 p.R2362* 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 tier1 - - 56 0 0.00 35 7 16.67 AOC2 0 genome.wustl.edu 37 17 40997634 40997634 + Frame_Shift_Del DEL T T - TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 17 40997634 40997634 T - DEL AOC2 ENST00000253799 human ensembl 74_37 +1 known frame_shift_del c.991 p.F331fs 0.950 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC2 HGNC ENSG00000131480 tier1 106 0 0.00 93 13 12.26 APOB 0 genome.wustl.edu 37 2 21230875 21230875 + Silent SNP A A C TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 2 21230875 21230875 A C SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.8865 p.T2955 0.071 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 111 0 0.00 85 11 11.46 ARHGAP20 0 genome.wustl.edu 37 11 110451341 110451341 + Missense_Mutation SNP T T C TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 11 110451341 110451341 T C SNP ARHGAP20 ENST00000260283 human ensembl 74_37 -1 known missense c.2329 p.T777A 0.007 NULL pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom - no_errors ARHGAP20 HGNC ENSG00000137727 tier1 - - 118 0 0.00 134 15 10.00 ASPH 0 genome.wustl.edu 37 8 62550924 62550925 + Splice_Site INS - - AA TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 8 62550924 62550925 - AA INS ASPH ENST00000379454 human ensembl 74_37 -1 known splice_site_ins c.791-3_791-2 e11-2 0.000:0.002 - - - no_errors ASPH HGNC ENSG00000198363 tier1 48 0 0.00 40 4 9.09 ATM 0 genome.wustl.edu 37 11 108117812 108117813 + Frame_Shift_Ins INS - - A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 11 108117812 108117813 - A INS ATM ENST00000278616 human ensembl 74_37 +1 known frame_shift_ins c.1023_1024 p.E342fs 0.954:1.000 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 56 0 0.00 47 16 25.40 BCL3 0 genome.wustl.edu 37 19 45254599 45254599 + Missense_Mutation SNP C C A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 19 45254599 45254599 C A SNP BCL3 ENST00000164227 human ensembl 74_37 +1 known missense c.372 p.D124E 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors BCL3 HGNC ENSG00000069399 tier1 - - 62 0 0.00 28 7 20.00 BPIFB4 0 genome.wustl.edu 37 20 31692647 31692647 + Missense_Mutation SNP T T A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 20 31692647 31692647 T A SNP BPIFB4 ENST00000375483 human ensembl 74_37 +1 known missense c.1712 p.I571N 0.988 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 tier1 - - 66 0 0.00 65 5 7.14 C16orf58 0 genome.wustl.edu 37 16 31512026 31512026 + Missense_Mutation SNP C C T TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 16 31512026 31512026 C T SNP C16orf58 ENST00000327237 human ensembl 74_37 -1 known missense c.442 p.V148I 0.005 pfam_RUS2/WXR1 pfam_RUS2/WXR1 - no_errors C16orf58 HGNC ENSG00000140688 tier1 - - 34 0 0.00 28 4 12.12 CAD 0 genome.wustl.edu 37 2 27465798 27465798 + Missense_Mutation SNP G G A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 2 27465798 27465798 G A SNP CAD ENST00000264705 human ensembl 74_37 +1 known missense c.6437 p.R2146Q 1.000 pfam_Asp_carbamoyltransf_Asp/Orn-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Asp_carbamoyltransf,tigrfam_Asp_carbamoyltransf pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 40 0 0.00 30 3 9.09 CCDC64 0 genome.wustl.edu 37 12 120510450 120510450 + Missense_Mutation SNP G G A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 12 120510450 120510450 G A SNP CCDC64 ENST00000257583 human ensembl 74_37 +1 known missense c.172 p.D58N 1.000 NULL NULL - no_errors CCDC64 HGNC ENSG00000135127 tier1 - - 49 0 0.00 41 8 16.00 CDR1 0 genome.wustl.edu 37 X 139865800 139865800 + Silent SNP C C A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 X 139865800 139865800 C A SNP CDR1 ENST00000370532 human ensembl 74_37 -1 known silent c.732 p.L244 0.001 NULL NULL - no_errors CDR1 HGNC ENSG00000184258 tier1 - - 50 0 0.00 33 12 26.67 CNKSR1 0 genome.wustl.edu 37 1 26515839 26515839 + Missense_Mutation SNP C C T TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 1 26515839 26515839 C T SNP CNKSR1 ENST00000374253 human ensembl 74_37 +1 known missense c.1963 p.R655C 0.984 NULL pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 tier1 - - 38 0 0.00 17 4 19.05 CYP26A1 0 genome.wustl.edu 37 10 94834731 94834731 + Missense_Mutation SNP G G A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 10 94834731 94834731 G A SNP CYP26A1 ENST00000224356 human ensembl 74_37 +1 known missense c.610 p.G204R 0.889 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP26A1 HGNC ENSG00000095596 tier1 - - 65 0 0.00 30 11 26.83 DSC3 0 genome.wustl.edu 37 18 28588123 28588123 + Missense_Mutation SNP A A G TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 18 28588123 28588123 A G SNP DSC3 ENST00000360428 human ensembl 74_37 -1 known missense c.1522 p.Y508H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin/Desmocollin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin - no_errors DSC3 HGNC ENSG00000134762 tier1 - - 31 0 0.00 26 11 28.21 EGR2 0 genome.wustl.edu 37 10 64573442 64573442 + Missense_Mutation SNP G G T TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 10 64573442 64573442 G T SNP EGR2 ENST00000242480 human ensembl 74_37 -1 known missense c.956 p.P319H 1.000 NULL pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR2 HGNC ENSG00000122877 tier1 - - 66 0 0.00 25 13 34.21 FAM107B 0 genome.wustl.edu 37 10 14572425 14572425 + Missense_Mutation SNP G G A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 10 14572425 14572425 G A SNP FAM107B ENST00000181796 human ensembl 74_37 -1 known missense c.559 p.P187S 1.000 pfam_DUF1151 pfam_DUF1151 - no_errors FAM107B HGNC ENSG00000065809 tier1 - - 78 0 0.00 87 9 9.38 FAM13A-AS1 0 genome.wustl.edu 37 4 89649875 89649875 + RNA SNP C C T TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 4 89649875 89649875 C T SNP FAM13A-AS1 ENST00000500765 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors FAM13A-AS1 HGNC ENSG00000248019 tier1 - - 46 0 0.00 40 5 11.11 FLNC 0 genome.wustl.edu 37 7 128486499 128486499 + Missense_Mutation SNP G G A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 7 128486499 128486499 G A SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.4109 p.R1370Q 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 tier1 - - 61 0 0.00 56 9 13.85 FOXP2 0 genome.wustl.edu 37 7 114270047 114270047 + Missense_Mutation SNP A A G TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 7 114270047 114270047 A G SNP FOXP2 ENST00000408937 human ensembl 74_37 +1 known missense c.659 p.K220R 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP2 HGNC ENSG00000128573 tier1 - - 86 0 0.00 75 5 6.25 FSCB 0 genome.wustl.edu 37 14 44974297 44974297 + Missense_Mutation SNP C C A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 14 44974297 44974297 C A SNP FSCB ENST00000340446 human ensembl 74_37 -1 known missense c.1894 p.A632S 0.000 NULL NULL - no_errors FSCB HGNC ENSG00000189139 22 0 0.00 25 2 7.41 GPAT2 0 genome.wustl.edu 37 2 96698123 96698123 + RNA DEL C C - TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 2 96698123 96698123 C - DEL GPAT2 ENST00000468438 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GPAT2 HGNC ENSG00000186281 tier1 8 0 0.00 4 2 33.33 GRK4 0 genome.wustl.edu 37 4 3040280 3040280 + RNA DEL A A - TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 4 3040280 3040280 A - DEL GRK4 ENST00000504308 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors GRK4 HGNC ENSG00000125388 tier1 35 0 0.00 25 5 16.67 HACE1 0 genome.wustl.edu 37 6 105198231 105198231 + Frame_Shift_Del DEL A A - TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 6 105198231 105198231 A - DEL HACE1 ENST00000262903 human ensembl 74_37 -1 known frame_shift_del c.2328 p.F776fs 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt - no_errors HACE1 HGNC ENSG00000085382 tier1 32 0 0.00 25 3 10.71 HMCN1 0 genome.wustl.edu 37 1 186084516 186084516 + Missense_Mutation SNP T T G TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 1 186084516 186084516 T G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.11531 p.L3844R 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 - - 41 0 0.00 29 15 34.09 HOXD4 0 genome.wustl.edu 37 2 177017489 177017489 + Missense_Mutation SNP G G A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 2 177017489 177017489 G A SNP HOXD4 ENST00000306324 human ensembl 74_37 +1 known missense c.587 p.R196H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXD4 HGNC ENSG00000170166 tier1 - - 53 0 0.00 44 7 13.73 IFT140 0 genome.wustl.edu 37 16 1612045 1612045 + Missense_Mutation SNP G G T TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 16 1612045 1612045 G T SNP IFT140 ENST00000426508 human ensembl 74_37 -1 known missense c.2140 p.P714T 0.998 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 tier1 - - 46 0 0.00 35 4 10.26 IGHV1OR21-1 0 genome.wustl.edu 37 21 10862800 10862800 + Missense_Mutation SNP G G C TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 21 10862800 10862800 G C SNP IGHV1OR21-1 ENST00000559480 human ensembl 74_37 +1 known missense c.96 p.K32N 1.000 pfam_Ig_V-set,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGHV1OR21-1 HGNC ENSG00000169861 tier1 - - 158 0 0.00 149 8 5.10 IMPG2 0 genome.wustl.edu 37 3 100963269 100963269 + Missense_Mutation SNP C C G TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 3 100963269 100963269 C G SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known missense c.1906 p.D636H 0.455 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 tier1 - - 76 0 0.00 66 19 22.35 IRF2 0 genome.wustl.edu 37 4 185329386 185329386 + Frame_Shift_Del DEL C C - TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 4 185329386 185329386 C - DEL IRF2 ENST00000393593 human ensembl 74_37 -1 known frame_shift_del c.455 p.S152fs 1.000 pirsf_Interferon_reg_fac-1/2 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF2 HGNC ENSG00000168310 tier1 93 0 0.00 43 23 34.85 ITGAD 0 genome.wustl.edu 37 16 31425795 31425795 + Missense_Mutation SNP T T G TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 16 31425795 31425795 T G SNP ITGAD ENST00000389202 human ensembl 74_37 +1 known missense c.2020 p.F674V 0.892 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 tier1 - - 164 0 0.00 94 34 26.36 ITGAX 0 genome.wustl.edu 37 16 31382427 31382427 + Missense_Mutation SNP C C G TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 16 31382427 31382427 C G SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known missense c.1733 p.S578C 0.000 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 tier1 - - 101 0 0.00 56 14 20.00 JAKMIP1 0 genome.wustl.edu 37 4 6082031 6082031 + Missense_Mutation SNP C C A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 4 6082031 6082031 C A SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known missense c.1110 p.K370N 1.000 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 25 0 0.00 35 4 10.26 KCNK5 0 genome.wustl.edu 37 6 39158884 39158884 + Missense_Mutation SNP C C T TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 6 39158884 39158884 C T SNP KCNK5 ENST00000359534 human ensembl 74_37 -1 known missense c.1282 p.G428S 0.647 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC ENSG00000164626 tier1 - - 35 0 0.00 22 4 15.38 KCNMB2 0 genome.wustl.edu 37 3 178560470 178560470 + Missense_Mutation SNP T T G TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 3 178560470 178560470 T G SNP KCNMB2 ENST00000358316 human ensembl 74_37 +1 known missense c.453 p.N151K 0.997 pfam_K_chnl_Ca-activ_BK_bsu pfam_K_chnl_Ca-activ_BK_bsu,pfam_KCNMB2_ball_chain_dom,prints_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB2 HGNC ENSG00000197584 tier1 - - 97 0 0.00 111 16 12.60 KHDRBS2 0 genome.wustl.edu 37 6 62995777 62995777 + Missense_Mutation SNP C C T TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 6 62995777 62995777 C T SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known missense c.77 p.R26H 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 tier1 - - 25 0 0.00 26 6 18.75 KMT2B 0 genome.wustl.edu 37 19 36222961 36222961 + Nonsense_Mutation SNP C C T TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 19 36222961 36222961 C T SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known nonsense c.5590 p.R1864* 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 tier1 - - 23 0 0.00 9 4 30.77 KMT2D 0 genome.wustl.edu 37 12 49425824 49425826 + In_Frame_Del DEL GCT GCT - TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 12 49425824 49425826 GCT - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known in_frame_del c.12664_12662 p.Q4221in_frame_del 0.999:1.000:1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 33 0 0.00 24 2 7.69 LHFPL5 0 genome.wustl.edu 37 6 35773618 35773618 + Silent SNP G G A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 6 35773618 35773618 G A SNP LHFPL5 ENST00000360215 human ensembl 74_37 +1 known silent c.171 p.P57 0.154 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL5 HGNC ENSG00000197753 tier1 - - 128 0 0.00 83 10 10.75 LRP1 0 genome.wustl.edu 37 12 57578643 57578643 + Missense_Mutation SNP G G A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 12 57578643 57578643 G A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.6208 p.D2070N 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 tier1 - - 35 0 0.00 16 6 27.27 LRP2 0 genome.wustl.edu 37 2 170031820 170031820 + Missense_Mutation SNP G G A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 2 170031820 170031820 G A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.10651 p.R3551C 0.998 superfamily_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 - - 46 0 0.00 45 5 10.00 LYPD3 0 genome.wustl.edu 37 19 43969710 43969710 + Missense_Mutation SNP C C T TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 19 43969710 43969710 C T SNP LYPD3 ENST00000244333 human ensembl 74_37 -1 known missense c.14 p.R5K 0.881 NULL pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LYPD3 HGNC ENSG00000124466 tier1 - - 42 0 0.00 34 4 10.53 MAEL 0 genome.wustl.edu 37 1 166974588 166974588 + Nonsense_Mutation SNP C C T TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 1 166974588 166974588 C T SNP MAEL ENST00000367872 human ensembl 74_37 +1 known nonsense c.799 p.R267* 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_CH-domain - no_errors MAEL HGNC ENSG00000143194 tier1 - - 90 0 0.00 115 9 7.26 MBIP 0 genome.wustl.edu 37 14 36770037 36770037 + RNA DEL A A - TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 14 36770037 36770037 A - DEL MBIP ENST00000604154 human ensembl 74_37 -1 putative rna NULL NULL 0.241 - - - no_errors MBIP HGNC ENSG00000151332 tier1 9 0 0.00 5 3 37.50 MED31 0 genome.wustl.edu 37 17 6547843 6547843 + Missense_Mutation SNP G G A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 17 6547843 6547843 G A SNP MED31 ENST00000225728 human ensembl 74_37 -1 known missense c.340 p.R114C 1.000 pfam_Mediator_Med31 pfam_Mediator_Med31 - no_errors MED31 HGNC ENSG00000108590 tier1 - - 109 0 0.00 81 20 19.61 MPPED1 0 genome.wustl.edu 37 22 43821167 43821167 + Missense_Mutation SNP C C A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 22 43821167 43821167 C A SNP MPPED1 ENST00000538182 human ensembl 74_37 +1 known missense c.275 p.T92N 1.000 NULL pfam_PEstase_dom - no_errors MPPED1 HGNC ENSG00000186732 tier1 - - 71 0 0.00 33 4 10.81 MTOR 0 genome.wustl.edu 37 1 11291018 11291018 + Missense_Mutation SNP C C A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 1 11291018 11291018 C A SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.2743 p.V915F 1.000 pfam_DUF3385_TOR,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 - - 65 0 0.00 43 14 24.56 NLGN1 0 genome.wustl.edu 37 3 173997382 173997382 + Missense_Mutation SNP A A C TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 3 173997382 173997382 A C SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known missense c.1711 p.N571H 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 tier1 - - 68 0 0.00 54 10 15.62 NNMT 0 genome.wustl.edu 37 11 114182997 114182997 + Missense_Mutation SNP C C T TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 11 114182997 114182997 C T SNP NNMT ENST00000299964 human ensembl 74_37 +1 known missense c.593 p.A198V 0.083 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors NNMT HGNC ENSG00000166741 tier1 - - 57 0 0.00 40 7 14.89 NUP153 0 genome.wustl.edu 37 6 17688812 17688812 + Missense_Mutation SNP A A T TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 6 17688812 17688812 A T SNP NUP153 ENST00000537253 human ensembl 74_37 -1 known missense c.149 p.I50N 1.000 NULL pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 tier1 - - 106 0 0.00 102 6 5.56 OCRL 0 genome.wustl.edu 37 X 128691919 128691919 + Frame_Shift_Del DEL T T - TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 X 128691919 128691919 T - DEL OCRL ENST00000371113 human ensembl 74_37 +1 known frame_shift_del c.431 p.S146fs 0.011 NULL pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors OCRL HGNC ENSG00000122126 tier1 61 0 0.00 41 11 21.15 OLFML2B 0 genome.wustl.edu 37 1 161953725 161953725 + Missense_Mutation SNP G G A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 1 161953725 161953725 G A SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known missense c.1993 p.R665C 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 tier1 - - 52 0 0.00 35 21 37.50 OR4A15 0 genome.wustl.edu 37 11 55135832 55135832 + Missense_Mutation SNP T T C TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 11 55135832 55135832 T C SNP OR4A15 ENST00000314706 human ensembl 74_37 +1 known missense c.473 p.L158P 0.356 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A15 HGNC ENSG00000181958 tier1 - - 155 0 0.00 149 19 11.31 OR52N4 0 genome.wustl.edu 37 11 5776758 5776758 + Missense_Mutation SNP C C A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 11 5776758 5776758 C A SNP OR52N4 ENST00000317254 human ensembl 74_37 +1 known missense c.788 p.S263Y 0.079 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52N4 HGNC ENSG00000181074 tier1 - - 99 0 0.00 70 13 15.66 OXSM 0 genome.wustl.edu 37 3 25835766 25835766 + Frame_Shift_Del DEL G G - TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 3 25835766 25835766 G - DEL OXSM ENST00000280701 human ensembl 74_37 +1 known frame_shift_del c.1161 p.G388fs 1.000 pfam_Ketoacyl_synth_C,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2 pfam_Ketoacyl_synth_N,pfam_Ketoacyl_synth_C,pfam_Thiolase_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2 - no_errors OXSM HGNC ENSG00000151093 tier1 63 0 0.00 47 8 14.55 PCDHGA6 0 genome.wustl.edu 37 5 140755021 140755021 + Nonsense_Mutation SNP C C A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 5 140755021 140755021 C A SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known nonsense c.1371 p.Y457* 0.064 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 tier1 - - 106 0 0.00 97 8 7.62 PCDHGB3 0 genome.wustl.edu 37 5 140751305 140751305 + Silent SNP C C T TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 5 140751305 140751305 C T SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known silent c.1344 p.N448 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 tier1 - - 150 0 0.00 121 23 15.97 PDZRN4 0 genome.wustl.edu 37 12 41900351 41900351 + Nonsense_Mutation SNP C C T TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 12 41900351 41900351 C T SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known nonsense c.937 p.R313* 0.999 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 tier1 - - 40 0 0.00 40 8 16.67 PGC 0 genome.wustl.edu 37 6 41705512 41705514 + In_Frame_Del DEL TGA TGA - TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 TGA TGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 6 41705512 41705514 TGA - DEL PGC ENST00000373025 human ensembl 74_37 -1 known in_frame_del c.970_968 p.I323in_frame_del 0.997:1.000:1.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors PGC HGNC ENSG00000096088 tier1 32 0 0.00 24 6 20.00 PNPLA5 0 genome.wustl.edu 37 22 44285693 44285694 + Frame_Shift_Ins INS - - G TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 22 44285693 44285694 - G INS PNPLA5 ENST00000216177 human ensembl 74_37 -1 known frame_shift_ins c.478_477 p.E159fs 0.000:0.000 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA5 HGNC ENSG00000100341 tier1 14 0 0.00 11 3 21.43 POM121 0 genome.wustl.edu 37 7 72413625 72413625 + Silent SNP C C T TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 7 72413625 72413625 C T SNP POM121 ENST00000434423 human ensembl 74_37 +1 known silent c.3093 p.G1031 0.006 NULL NULL - no_errors POM121 HGNC ENSG00000196313 80 0 0.00 59 4 6.35 PRR5L 0 genome.wustl.edu 37 11 36422780 36422780 + Nonsense_Mutation SNP C C T TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 11 36422780 36422780 C T SNP PRR5L ENST00000378867 human ensembl 74_37 +1 known nonsense c.109 p.R37* 0.996 NULL pfam_HbrB - no_errors PRR5L HGNC ENSG00000135362 tier1 - - 38 0 0.00 39 7 15.22 PTCHD3 0 genome.wustl.edu 37 10 27703027 27703027 + Silent SNP C C T TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 10 27703027 27703027 C T SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known silent c.153 p.P51 0.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 tier1 - - 122 0 0.00 93 17 15.45 RAB19 0 genome.wustl.edu 37 7 140111699 140111699 + Missense_Mutation SNP A A G TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 7 140111699 140111699 A G SNP RAB19 ENST00000275874 human ensembl 74_37 +1 known missense c.368 p.Q123R 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 RAB19 HGNC ENSG00000146955 tier1 - - 56 0 0.00 26 8 23.53 RBM48 0 genome.wustl.edu 37 7 92163998 92163998 + Missense_Mutation SNP T T C TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 7 92163998 92163998 T C SNP RBM48 ENST00000265732 human ensembl 74_37 +1 known missense c.731 p.L244S 0.015 NULL NULL - no_errors RBM48 HGNC ENSG00000127993 tier1 - - 62 0 0.00 49 6 10.91 RCN2 0 genome.wustl.edu 37 15 77239853 77239853 + Missense_Mutation SNP A A G TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 15 77239853 77239853 A G SNP RCN2 ENST00000394885 human ensembl 74_37 +1 known missense c.653 p.D218G 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors RCN2 HGNC ENSG00000117906 tier1 - - 31 0 0.00 32 7 17.95 RFWD2 0 genome.wustl.edu 37 1 175996733 175996733 + Missense_Mutation SNP T T G TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 1 175996733 175996733 T G SNP RFWD2 ENST00000367669 human ensembl 74_37 -1 known missense c.1704 p.R568S 0.996 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RFWD2 HGNC ENSG00000143207 tier1 - - 60 0 0.00 60 6 9.09 RIPK2 0 genome.wustl.edu 37 8 90782093 90782093 + Missense_Mutation SNP A A C TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 8 90782093 90782093 A C SNP RIPK2 ENST00000220751 human ensembl 74_37 +1 known missense c.577 p.M193L 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,pirsf_Rcpt-int_Ser/Thr_kinase-2,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CARD,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rcpt-int_Ser/Thr_kinase-2,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_CARD,pfscan_Prot_kinase_dom - no_errors RIPK2 HGNC ENSG00000104312 tier1 - - 115 0 0.00 108 39 26.53 SH2D4B 0 genome.wustl.edu 37 10 82330007 82330007 + Missense_Mutation SNP G G C TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 10 82330007 82330007 G C SNP SH2D4B ENST00000470604 human ensembl 74_37 +1 known missense c.279 p.E93D 0.984 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2D4B HGNC ENSG00000178217 tier1 - - 50 0 0.00 63 13 17.11 SLC3A2 0 genome.wustl.edu 37 11 62652677 62652677 + Missense_Mutation SNP G G A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 11 62652677 62652677 G A SNP SLC3A2 ENST00000377892 human ensembl 74_37 +1 known missense c.1243 p.D415N 0.713 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A2 HGNC ENSG00000168003 tier1 - - 73 0 0.00 70 5 6.67 SLITRK1 0 genome.wustl.edu 37 13 84455149 84455149 + Missense_Mutation SNP A A C TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 13 84455149 84455149 A C SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.494 p.L165R 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 SLITRK1 HGNC ENSG00000178235 tier1 - - 90 0 0.00 107 17 13.49 SPEF2 0 genome.wustl.edu 37 5 35705894 35705894 + Frame_Shift_Del DEL A A - TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 5 35705894 35705894 A - DEL SPEF2 ENST00000356031 human ensembl 74_37 +1 known frame_shift_del c.2649 p.K886fs 0.129 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 tier1 31 0 0.00 30 3 9.09 SSH2 0 genome.wustl.edu 37 17 27958230 27958230 + Missense_Mutation SNP C C T TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 17 27958230 27958230 C T SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known missense c.3901 p.A1301T 0.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 tier1 - - 74 0 0.00 46 6 11.54 TAF6L 0 genome.wustl.edu 37 11 62554693 62554693 + Silent SNP G G C TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 11 62554693 62554693 G C SNP TAF6L ENST00000294168 human ensembl 74_37 +1 known silent c.1794 p.L598 1.000 NULL pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd - no_errors TAF6L HGNC ENSG00000162227 tier1 - - 9 0 0.00 13 5 27.78 TEX30 0 genome.wustl.edu 37 13 103418791 103418791 + Missense_Mutation SNP C C G TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 13 103418791 103418791 C G SNP TEX30 ENST00000376032 human ensembl 74_37 -1 known missense c.644 p.W215S 1.000 NULL pfam_Dienelactn_hydro - no_errors TEX30 HGNC ENSG00000151287 tier1 - - 53 0 0.00 43 5 10.42 THBS4 0 genome.wustl.edu 37 5 79375728 79375728 + Missense_Mutation SNP G G A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 5 79375728 79375728 G A SNP THBS4 ENST00000350881 human ensembl 74_37 +1 known missense c.2512 p.A838T 1.000 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 tier1 - - 43 0 0.00 30 6 16.67 THSD1 0 genome.wustl.edu 37 13 52971375 52971375 + Missense_Mutation SNP C C G TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 13 52971375 52971375 C G SNP THSD1 ENST00000258613 human ensembl 74_37 -1 known missense c.1013 p.R338T 1.000 superfamily_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 tier1 - - 44 0 0.00 61 22 26.51 TRAK2 0 genome.wustl.edu 37 2 202252596 202252596 + Missense_Mutation SNP C C T TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 2 202252596 202252596 C T SNP TRAK2 ENST00000332624 human ensembl 74_37 -1 known missense c.1526 p.R509Q 1.000 pfam_Traffickng_kinesin-bd_prot_dom pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK2 HGNC ENSG00000115993 tier1 rs144404050 - 74 0 0.00 77 11 12.50 U2AF1L4 0 genome.wustl.edu 37 19 36236323 36236323 + RNA DEL C C - TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 19 36236323 36236323 C - DEL U2AF1L4 ENST00000588100 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors U2AF1L4 HGNC ENSG00000161265 tier1 59 0 0.00 38 6 13.64 USP54 0 genome.wustl.edu 37 10 75265146 75265146 + Missense_Mutation SNP G G A TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 10 75265146 75265146 G A SNP USP54 ENST00000339859 human ensembl 74_37 -1 known missense c.4090 p.H1364Y 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP54 HGNC ENSG00000166348 tier1 - - 55 0 0.00 67 6 8.11 ZDBF2 0 genome.wustl.edu 37 2 207173829 207173829 + Missense_Mutation SNP T T C TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 2 207173829 207173829 T C SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.4577 p.V1526A 0.029 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 tier1 - - 44 0 0.00 27 6 18.18 ZNF112 0 genome.wustl.edu 37 19 44833415 44833415 + Missense_Mutation SNP G G T TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 19 44833415 44833415 G T SNP ZNF112 ENST00000536500 human ensembl 74_37 -1 known missense c.964 p.Q322K 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 ZNF112 HGNC ENSG00000062370 tier1 - - 61 0 0.00 60 9 13.04 ZNF534 0 genome.wustl.edu 37 19 52937309 52937309 + Missense_Mutation SNP G G T TCGA-RD-A8MV-01A-11D-A364-08 TCGA-RD-A8MV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6d7c66-3980-4a68-9e95-12a98d4c2477 b87e0fd6-bf15-4664-ad06-11f1a47cfac4 19 52937309 52937309 G T SNP ZNF534 ENST00000332323 human ensembl 74_37 +1 known missense c.117 p.E39D 0.750 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 ZNF534 HGNC ENSG00000198633 tier1 - - 68 0 0.00 79 10 11.24